Malformação genética da cabeça e pescoço

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Hospital Infantil Albert Sabin

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(85) 3125-9347 Site 4.0

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Hospital de Apoio de Brasília (HAB)

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(61) 2017-1259 Site 4.3

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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

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0800 050 5022 Site 3.5

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Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

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(62) 3269-8200 Site 3.6

Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

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(32) 4009-5131 Site 4.6

Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

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(31) 3307-9300 Site 4.2

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Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

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(65) 3615-7249 Site 3.8

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Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

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(91) 3201-6705 Site 4.1

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Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

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(83) 3206-0600 Site 4.3

Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

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(81) 2122-4100 Site 4.2

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Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

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(41) 3310-1010 Site 3.3

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Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

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(44) 3011-9100 Site 3.9

Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

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(41) 3360-1800 Site 3.7

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Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

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(21) 2868-8000 Site 4.4

Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

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(21) 2554-1700 4.7

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Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

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(51) 3320-3000 Site 3.1

Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

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(51) 3359-8000 Site 4.5

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Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

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(48) 3721-9140 Site 3.4

Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

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(11) 2661-0000 Site 4.2

Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

(17) 3201-5000 Site 4.1

Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

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(19) 3521-2121 Site 4.3

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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

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(16) 3602-1000 Site 4.6

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UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

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(11) 5576-4000 Site 3.7

FORTIFI-HN01: A Study of Ficerafusp Alfa (BCA101) or Placebo in Combination With Pembrolizumab in First-Line PD-L1-pos, R or M HNSCC

Anomalias CongênitasErros Inatos do Metabolismo

Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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NCT06788990

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Phase 1/2 Study of ETX-636 in Participants With Advanced Solid Tumors

NCT06993844

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Study Of Entrectinib (Rxdx-101) in Children and Adolescents With Locally Advanced Or Metastatic Solid Or Primary CNS Tumors And/Or Who Have No Satisfactory Treatment Options

NCT02650401

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Accuracy of 18F-Fluorocholine PET/MR and NeuroEXPLORER PET/CT Imaging for Localization of Parathyroid Tumors

NCT07444723

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Outside the Cage (OTC) Robotic Esophagectomy

NCT06735638

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NCT02650401 · Study Of Entrectinib (Rxdx-101) in Children and Adolescents …Ativo

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Publicações mais relevantes

Timeline de publicações

0 papers (10 anos)

#1

Abnormal Hearing Phenotypes in "Ignorome" Knockout Mice as Predictors of Cognitive Dysfunction.

Genes, brain, and behavior2026 Feb

Alzheimer's disease and related dementias affect over 55 million people worldwide and are one of the most pressing public health challenges. Age-related hearing loss has emerged as a strong predictor of Alzheimer's disease and related dementias risk, raising the possibility that auditory dysfunction may serve as an early biomarker. While the causal nature of the relationship remains uncertain, treating hearing loss, or addressing a shared underlying mechanism, may improve quality of life and slow symptom progression in at-risk individuals. Current animal models of Alzheimer's disease largely focus on rare familial mutations, limiting their ability to capture the genetic and phenotypic heterogeneity of late-onset disease. To explore broader genetic contributions and potential links between hearing and cognition, we leveraged data from the International Mouse Phenotyping Consortium, a large-scale resource that provides standardized phenotyping across thousands of knockout mouse lines. Genes with abnormal auditory phenotypes were more likely to display behavioral abnormalities compared to genes without auditory involvement. Although other sensory modalities such as vision also showed associations with behavioral traits, the links to auditory dysfunction were stronger. Furthermore, higher auditory brainstem response thresholds correlated with the number of behavioral abnormalities across genotypes. Gene Ontology enrichment analyses of genes with auditory and behavioral phenotypes revealed distinct biological processes potentially linking sensory decline and cognitive vulnerability. These findings highlight candidate genes and molecular pathways connecting age-related hearing loss and Alzheimer's disease and related dementias, provide alternative genetic models that better reflect disease complexity, and suggest new avenues for early detection and intervention.

#2

Activated Platelet-Released Heat Shock Protein 90α Triggers Autophagy-Dependent Neutrophil Extracellular Trap Formation and Amplifies Sepsis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Feb 24

Platelets are crucial to the development of thrombosis and coagulation abnormalities in sepsis, but the mechanisms by which they contribute to these pathological processes are not fully understood. Here, we identify a key role for platelet-released heat shock protein 90α (HSP90α) in driving neutrophil extracellular trap (NET) formation and supporting thromboinflammation during sepsis. Proteomic analysis of platelets from patients with sepsis showed a significant increase in HSP90α, which we traced back to trafficking pathways originating from megakaryocytes. When activated, platelets translocate HSP90α to their plasma membrane and release it into the extracellular space in both free and exosome-associated forms. Extracellular HSP90α acts as a damage-associated molecular pattern that binds to toll-like receptor 4 (TLR4) on neutrophils. This binding activates a downstream MyD88-Beclin 1 signaling pathway, triggering autophagy and leading to NET formation. Blocking extracellular HSP90α with a neutralizing monoclonal antibody significantly reduced NET formation both in vitro and in vivo, resulting in decreased sepsis-related thrombosis and inflammation. This platelet-HSP90α-TLR4-autophagy-NET pathway not only deepens our understanding of platelet-induced immunothrombosis but also suggests potential targets for therapies aimed at reducing coagulation problems and organ failure in septic patients. FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) is characterized by distinctive craniofacial features (including broad forehead, widow's peak and/or frontal upsweep, hypertelorism, ptosis, short nose with a broad nasal bridge and anteverted nares, wide mouth, and rectangular thickening of the ear lobes), short stature, skeletal anomalies (including short/broad hands, brachydactyly, camptodactyly, "swan neck" finger deformities, prominent interphalangeal joints, and metatarsus varus), genital anomalies including shawl scrotum and cryptorchidism, dental anomalies, variable neurodevelopmental disorders, ophthalmologic findings, and inguinal hernia. Congenital malformations such as cardiac defects, central nervous system anomalies, and cleft lip and/or palate are less common. Heterozygous females are typically asymptomatic or show a milder, incomplete phenotype. The diagnosis of Aarskog-Scott syndrome is established in a male proband with characteristic clinical findings and a hemizygous FGD1 pathogenic variant identified by molecular genetic testing. The diagnosis of Aarskog-Scott syndrome can be established in a female proband with characteristic clinical findings (milder, incomplete phenotype) and a heterozygous FGD1 pathogenic variant identified by molecular genetic testing; Heterozygous females are typically asymptomatic. Treatment of manifestations: Growth hormone therapy may be considered in those with growth hormone deficiency or persistent growth deficiency in those born small for gestational age without catch-up growth; standard orthopedic management for camptodactyly, foot malposition, and osteochondritis; standard treatment for cryptorchidism; standard dental and orthodontic care; developmental and educational support; standard ophthalmologic management of vision issues; ptosis surgery if visual axis is obstructed; standard management of hernias and anorectal anomalies; standard treatment of congenital heart disease; surgical correction for cleft lip and palate; speech therapy when needed. Surveillance: Measurement of growth parameters at every visit until adulthood; clinical musculoskeletal examination annually or as needed; monitor testicular descent at each pediatric visit; dental evaluations beginning with tooth eruption then annually or as clinically indicated; monitor developmental progress, educational needs, and for attention-deficit/hyperactivity disorder at each visit; ophthalmology evaluation annually in childhood and adolescence or as clinically indicated; assess for inguinal hernia at each visit; follow-up echocardiography as indicated by cardiologist; follow up for cleft lip/palate as clinically indicated; audiology evaluation annually in childhood and adolescence or as clinically indicated. Agents/circumstances to avoid: Avoid movements that cause sudden stress to the head and neck (e.g., somersaults, head dives, high-force cervical manipulation) and neck hyperextension during procedures until cervical abnormalities have been ruled out. Obtain cervical spine radiographs before general anesthesia. Evaluation of relatives at risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk male relatives of an affected individual in order to identify as early as possible those who would benefit from echocardiogram and management of congenital heart disease. Aarskog-Scott syndrome is inherited in an X-linked manner. About 10% of affected males have the disorder as the result of a de novo pathogenic variant. If the mother of the proband has an FGD1 pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected. Females who inherit the pathogenic variant will be heterozygotes and will usually be asymptomatic or have a partial or milder phenotype. Affected males transmit the FGD1 pathogenic variant to all of their daughters and none of their sons. Once the FGD1 pathogenic variant has been identified in an affected family member, identification of female heterozygotes and prenatal/preimplantation genetic testing are possible.

#3

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

American journal of human genetics2026 Feb 05

ATOH1 encodes a basic helix-loop-helix transcription factor critical for hindbrain development and mechanosensory system formation. While animal models have provided extensive functional insights, few human disease-causing variants in ATOH1 have been reported and with no clear functional validation. Here, we report three heterozygous frameshift variants identified in five unrelated families, leading to C-ter truncations of ATOH1 and consistently associated with hearing loss, subtle motor impairments, and a highly recognizable pattern of brainstem malformations. Diffusion tensor imaging in two individuals further revealed reproducible anomalies in specific fiber tracts, supporting a convergent neuroanatomical signature. We also report an early-truncating variant, which, in contrast, is recessive and causes a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia. Functional assays demonstrate that, unlike recessive variants, C-terminal truncating variants retain transcriptional activity but display increased protein stability. In vivo modeling using zebrafish showed that C-terminal truncations of atoh1a are sufficient to disrupt hindbrain neurogenesis and lateral-line hair cell specification. Furthermore, comparisons with loss-of-function phenotypes support a gain-of-function mechanism. Altogether, our findings establish that dominant and recessive ATOH1 variants give rise to different neurodevelopmental syndromes through distinct pathological mechanisms. Our work also underscores the importance of tight temporal control of transcription factor activity during hindbrain development and demonstrates how even subtle neurological phenotypes can arise from early disruption of core developmental programs.

#4

Generation of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene.

Stem cell research2026 Mar

Occult macular dystrophy (OMD) is a hereditary macular disease characterized by no visible macular abnormalities. It is an autosomal dominant disease associated with retinitis pigmentosa 1 like 1 (RP1L1) gene mutation. c.133C > T mutation in the RP1L1 gene is the primary cause of severe visual impairment in OMD patients. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a vision-impaired patient harboring heterozygous RP1L1 c.133C > T mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of OMD caused by RP1L1 mutation. Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Characteristic physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: growth deficiency, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, genitourinary tract anomalies, and ocular manifestations. Endocrine disorders (hypothyroidism, diabetes / impaired glucose tolerance), hearing loss, developmental delay, congenital heart defects, and gastrointestinal malformations are also more common in those with FA. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) is 35% by age 40 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. The diagnosis of FA is established in a proband with increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC) and/or one of the following identified on molecular genetic testing: biallelic pathogenic variants in one of the 21 genes known to cause autosomal recessive FA; a heterozygous pathogenic variant in RAD51 known to cause autosomal dominant FA; or a hemizygous pathogenic variant in FANCB known to cause X-linked FA. Targeted therapies: Oral androgens (e.g., oxymetholone, danazol) may transiently improve red blood cell and platelet counts in approximately 50% of individuals with FA. Granulocyte colony-stimulating factor improves the neutrophil count in some individuals. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the hematologic manifestations of FA, but the non-hematologic manifestations remain, including a high risk for solid tumors, which may be increased following HSCT. All these therapies have potential significant toxicity. Treatment of manifestations: Treatment of growth deficiency, limb anomalies, other orthopedic manifestations, kidney malformations, genital anomalies, hypothyroidism, diabetes, ocular anomalies, hearing loss, and cardiac anomalies as recommended by the subspecialty care provider. Early intervention for developmental delays; individualized education plan for school-age children; speech, occupational, and physical therapy as needed. Supplemental feeding as needed by nasogastric tube or gastrostomy tube. Treatment of bone marrow failure / MDS / AML through a center with experience in FA; early detection and surgical removal for solid tumors; human papilloma virus vaccination to reduce the risk for gynecologic cancer in females and reduce the risk of oral cancer in all individuals; liberal use of sunscreen and rash guards; treatment of skin cancer per dermatologist in coordination with multidisciplinary experts in FA; social work and care coordination as needed. Surveillance: Clinical assessment of growth, feeding, nutrition, spine, and ocular issues at each visit throughout childhood. Annual ophthalmology examination; assessment of pubertal stage and hormone levels at puberty and every two years until puberty is complete; annual evaluation with endocrinologist including TSH, free T4, 25-hydroxyvitamin D, two-hour glucose tolerance testing, and measurement of insulin concentration; follow-up hearing evaluation if exposed to ototoxic drugs; annual developmental assessment throughout childhood; blood counts every three to four months or as needed; bone marrow aspirate and biopsy to evaluate morphology and cellularity; FISH and cytogenetics to evaluate for emergence of a malignant clone at least annually after age two years; liver function tests every three to six months and liver ultrasound every six to twelve months in those receiving androgen therapy; gynecologic assessment for genital lesions annually beginning at age 13 years; vulvo-vaginal examinations and Pap smear annually beginning at age 18 years or with onset of sexual activity; oral examinations for tumors every six months beginning at age nine to ten years; annual nasolaryngoscopy beginning at age ten years; dermatology evaluation every six to 12 months; annual abdominal ultrasound and brain MRI in those with BRCA2-related FA. Additional cancer surveillance for individuals with BRCA1-, BRCA2-, BRIP1-, PALB2-, and RAD51C-related FA per National Comprehensive Cancer Network (NCCN) screening guidelines. Agents/circumstances to avoid: Transfusions of red blood cells or platelets for persons who are candidates for HSCT; family members as blood donors if HSCT is being considered; blood products that are not filtered (leuko-depleted) or irradiated; toxic agents that have been implicated in tumorigenesis; excessive sun exposure; unsafe sex practices, which increase the risk of HPV-associated malignancy. Radiographic studies solely for the purpose of surveillance (i.e., in the absence of clinical indications) should be minimized. Evaluation of relatives at risk: Molecular genetic testing (if the family-specific pathogenic variant[s] are known) or DEB/MMC cytogenetic testing of all sibs of a proband (and all at-risk family members of an individual with autosomal dominant [RAD51-related] or X-linked [FANCB-related] FA) for early diagnosis, treatment, and monitoring for physical abnormalities, bone marrow failure, and related cancers. FA is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA). Autosomal recessive FA: If both parents are known to be heterozygous for an autosomal recessive FA-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting both pathogenic variants and being affected, a 50% chance of inheriting one pathogenic variant and being heterozygous, and a 25% chance of inheriting neither of the familial FA-related pathogenic variants. Heterozygotes are not at risk for autosomal recessive FA. However, heterozygous pathogenic variants in a subset of FA-related genes (e.g., BRCA1, BRCA2, PALB2, BRIP1, and RAD51C) are associated with an increased risk for breast and other cancers. Heterozygote testing for at-risk relatives requires prior identification of the FA-related pathogenic variants in the family. Autosomal dominant FA: Given that all probands with RAD51-related FA reported to date whose parents have undergone molecular genetic testing have the disorder as a result of a de novo RAD51 pathogenic variant, the risk to other family members is presumed to be low. X-linked FA: The risk to sibs of a male proband depends on the genetic status of the mother. If the mother of the proband has a FANCB pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Male sibs who inherit the pathogenic variant will be affected. Female sibs who inherit the pathogenic variant will be heterozygotes and will usually not be affected. Heterozygote testing for at-risk female relatives requires prior identification of the FANCB pathogenic variant in the family. Molecular genetic prenatal testing and preimplantation genetic testing are possible if the pathogenic variant(s) in the family are known.

#5

ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

Human molecular genetics2026 Feb 23

Cockayne Syndrome is an ultra-rare premature aging condition associated with UV sensitivity, neurocognitive decline, retinopathy, metronidazole-induced lethality, and sensorineural hearing loss. In 70% of affected patients, bi-allelic pathogenic variants in ERCC6 are identified. Although the role of ERCC6 in DNA damage repair has been studied, little is known about the mechanism for defective ERCC6 function in clinical findings, particularly hearing loss. To identify the mechanism of disease caused by pathogenic variants in ERCC6, we developed a zebrafish (Danio rerio) ercc6 loss of function model. We assessed survival after UV and metronidazole exposure, measured basal respiration rates, and evaluated mechanoelectrical transduction function and counts of lateral line hair cells. We found that UV exposure significantly reduces ercc6-/- larval viability. Metronidazole treatment results in complete lethality; wildtype controls show nearly complete survival. ercc6-/- embryos have significantly increased oxygen consumption, suggesting abnormal mitochondrial function. Phalloidin staining of lateral line hair cells with and without UV treatment shows no difference in hair cell counts per neuromast between treatment groups. Mechanoelectrical transduction function after UV exposure, measured by FM1-43 uptake, is reduced. Metronidazole lethality is reduced, oxygen consumption rates are restored, and mechanoelectrical transduction function is preserved by treatment with Mn(III)tetrakis(4-benzoic acid)porphyrin Chloride (MnTBAP), a superoxide dismutase mimetic. We propose that defective mitochondrial function and increased reactive oxygen species levels provide a mechanism for hair cell dysfunction in this model of Cockayne Syndrome. These results provide a foundation for further experiments to explore disease mechanisms and treatment modalities for this premature aging condition.

Publicações recentes

[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi2025 Nov 10

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

Int J Pediatr Otorhinolaryngol2026 Mar

Evaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.

Otol Neurotol2026 Mar 1

Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Nonmalignant Lesions.

Mod Pathol2026 Mar

ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

Hum Mol Genet2026 Feb 23

Ver todas no PubMed

📚 EuropePMCmostrando 200

Hearing characteristics of Branchio-oto-renal syndrome in Japan.

Acta oto-laryngologica

The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.

EBioMedicine

BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.

Journal of the American Dental Association (1939)

Living evidence-informed guideline on the early detection of oral squamous cell carcinoma and potentially malignant disorders: Cytology adjuncts to determine the need for biopsy, Version 2026 1.0.

Journal of clinical medicine

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.

Genes, brain, and behavior

Abnormal Hearing Phenotypes in "Ignorome" Knockout Mice as Predictors of Cognitive Dysfunction.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Activated Platelet-Released Heat Shock Protein 90α Triggers Autophagy-Dependent Neutrophil Extracellular Trap Formation and Amplifies Sepsis.

AJNR. American journal of neuroradiology

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].

NPJ biofilms and microbiomes

The gut microbiota mediates depression-like behaviors in mice with chronic Echinococcus multilocularis infection.

International journal of pediatric otorhinolaryngology

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

American journal of human genetics

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

Applied immunohistochemistry & molecular morphology : AIMM

Summary and Analysis of Molecular Biological Changes, PD-L1 Immune Status and Clinicopathological Features of 78 Cases of Papillary Thyroid Carcinoma (<1 cm in Diameter) Combined With Lateral Cervical Lymph Node Metastasis.

Dento maxillo facial radiology

Craniofacial Measurements Using Zero Echo Time Magnetic Resonance Imaging.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Evaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Nonmalignant Lesions.

Generation of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene.

Stem cell research

Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.

ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

Human molecular genetics

Molecular genetics & genomic medicine

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

Asian journal of andrology

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.

Barnaculate Carcinoma in Four Patients: Verrucoid Squamous Cell Carcinoma Subtype with TERT and HRAS Oncogenic Variants.

Modulating ACVRL1 Expression in HMEC1 Cells as a Simplified In Vitro Model for Hereditary Hemorrhagic Telangiectasia (HHT) Type 2 Studies.

In vivo (Athens, Greece)

[Molecular and Genetic Analysis of a Rare Primary Culture of Head and Neck Paraganglioma].

Molekuliarnaia biologiia

International journal of pediatric otorhinolaryngology

Randomized clinical trial of post-operative outcomes following posterior versus anterior tympanostomy tube placement: preliminary results at 2-12 week follow-up.

Molecular genetics and genomics : MGG

The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

Rescue of Angiopoietin-2 Inhibits Proliferation of Lymphatic Malformation Endothelial Cells.

Journal of the American Academy of Dermatology

Clinical practice guidelines for the management of basal cell carcinoma in Gorlin syndrome.

European journal of pediatrics

The VASCERN-VASCA diagnostic and management pathways for kaposiform hemangioendothelioma.

Respiratory Involvement in HIST1H1E-Related Rahman Syndrome: A Case of Severe Mixed Apnea.

American journal of medical genetics. Part C, Seminars in medical genetics

Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.

Journal of clinical medicine

Antiangiogenic Treatment of Patients with Hereditary Hemorrhagic Telangiectasia: Experience of a Hungarian Center.

Current oncology (Toronto, Ont.)

Von Hippel-Lindau Disease-Associated Endolymphatic Sac Tumours: Seven Cases and Genotype-Phenotype Features.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Synchronous airway lesions in children with obstructive sleep apnea.

Sleep medicine

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.

Standard medical care versus enhanced interdisciplinary care for implementation of positive airway pressure in youth with Down syndrome: a randomised controlled trial protocol.

BMJ open

European journal of dermatology : EJD

Co-occurrence of two monogenic diseases within a single family.

Executive summary of the 15th HHT international scientific conference.

Angiogenesis

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

BMC pediatrics

Cytopathologic and histopathologic characteristics of SMARCB1 deficient neoplasm and correlation with molecular and immunohistochemical findings.

Human pathology

The Journal of international medical research

Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey.

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology.

Ear, nose, & throat journal

Safety of Adenotonsillectomy in Children with Genetic Syndromes.

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

Audiology research

European journal of radiology

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

Facial plastic surgery clinics of North America

Syndromes and Genetic Basis of Clefting.

Facial plastic surgery clinics of North America

Prenatal Diagnosis and Prenatal Counseling of Patients with Orofacial Clefts.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Nr4a1 Deficiency Potentially Promotes Hearing Loss Through Inner Ear Immunity in C57BL/6N Mice.

Archives of medical science : AMS

Correlation between SLC39A8 gene and body constitution-related phenotypes and hearing loss: a Mendelian randomization-based study.

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

[Molecular insights and clinical management of HHT with rare comorbidities].

JAMA otolaryngology-- head & neck surgery

Reevaluation of Enlarged Vestibular Aqueduct.

Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants.

Human molecular genetics

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

Construction and phenotypic analysis of p2rx2 knockout zebrafish lines.

Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis.

Genetics in medicine : official journal of the American College of Medical Genetics

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

American journal of stem cells

The predawn dilemma in adeno-associated virus-based gene therapies for hereditary deafness.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Comparison of One-Year auditory rehabilitation outcomes by etiology in pediatric patients with bilateral severe hearing loss (70-90 dB): enlarged vestibular aqueduct vs. Other causes.

PLoS computational biology

Epithelial competition determines gene therapy potential to suppress Fanconi Anemia oral cancer risk.

The Journal of international medical research

Epistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review.

Frontiers in endocrinology

Case Report: Rare multisystem metastasis in head and neck paraganglioma with SDHB pathogenic variant and KIF1B VUS manifested as FUO.

Cerebellum (London, England)

Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.

European journal of pediatrics

Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.

Mitophagy Activation by N-Acetylcysteine Protects against Mic60 Deficiency-Induced Auditory Neuropathy.

Neuroscience bulletin

Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.

Pediatric blood & cancer

Journal of medical case reports

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.

Cranial base synostosis in mice caused by upregulation of Wnt following partial inhibition of Shh.

BMC biology

Current opinion in otolaryngology & head and neck surgery

Update on congenital stapes footplate fixation and juvenile otosclerosis.

RNA Sequencing Provides Insight Into Idiopathic Subglottic Stenosis.

Disease models & mechanisms

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

S100A8/A9 Promotes Fibrosis in Iatrogenic Laryngotracheal Stenosis.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale

Outcomes After Tonsillectomy in Children With Angelman Syndrome.

Scn2a-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in an ASD mouse model.

Nature communications

Orphanet journal of rare diseases

Family planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study.

The Journal of craniofacial surgery

Bilateral Choanal Atresia With Facial Deformity.

Update on diagnostic procedures in third window syndromes.

HNO

Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

[The cochlear extracellular matrix gene mutations and hearing loss].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

[Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

[Prediction of hearing change in children with enlarged vestibular aqueduct with different genotypes by linear mixed-effects model].

The Impact of Brachytherapy on Dental Development in Pediatric Head and Neck Tumor Survivors: A Pilot Study.

Pediatric blood & cancer

Orphanet journal of rare diseases

Comprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors.

Children (Basel, Switzerland)

Cochlear Implant in Children with Congenital CMV Infection: Long-Term Results from an Italian Multicentric Study.

International journal of pediatric otorhinolaryngology

Hypoglossal nerve stimulator for obstructive sleep apnea in children with down syndrome younger than 13.

Metagenomic whole genome shotgun analysis of the airway microbiome in laryngotracheal stenosis: a pilot study.

Feingold syndrome with GJB2 variants.

Auris, nasus, larynx

Gene Therapy vs Cochlear Implantation in Restoring Hearing Function and Speech Perception for Individuals With Congenital Deafness.

JAMA neurology

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy.

Frontiers in genetics

Orbit (Amsterdam, Netherlands)

Orbital angioleiomyoma with GJA4 mutation mimicking cavernous venous malformation: a case report and comprehensive review.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

[Mechanisms of enhanced noise susceptibility in waardenburg syndrome Sox10 p.S100Rfs*9 mutant mice].

Journal of neurodevelopmental disorders

Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion.

Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida.

Human genomics

International journal of surgical pathology

Late Recurrence of Spindle Cell Sarcoma in Association with TPM3::NTRK1 Fusion.

Oral surgery, oral medicine, oral pathology and oral radiology

Hereditary gingival fibromatosis: a case report with a novel SOS1 mutation and systematic review.

The Journal of cell biology

Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.

Genotype and Outcomes of Cochlear Implantation in Children With Incomplete Partition Type III.

European journal of medical genetics

Variable expressivity of a transmitted pathogenic KAT6B variant.

Time Course and Predictors of Persistent Postoperative Dysphagia in Patients with Congenital Heart Disease Following Cardiac Surgery.

Pediatric cardiology

Molecular medicine (Cambridge, Mass.)

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Annals of vascular surgery

Lymphatic Malformation: Classification, Pathogenesis, and Therapeutic Strategies.

CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.

Human genomics

Integrative metabolomics and transcriptomics analysis of hippocampus reveals taurine metabolism and sphingolipid metabolism dysregulation associated with sleep deprivation-induced memory impairment.

Brain research bulletin

Bilateral macular colobomata: expanded phenotype of PCARE/C2ORF71.

Ophthalmic genetics

Diagnostic value of BNLF2b antibody, dual-antibody testing and Epstein-Barr virus DNA in nasopharyngeal carcinoma: a prospective cohort study in Hunan Province, China.

BMJ open

Journal of biomedical research

OSBPL2 deficiency inhibits Rho/ROCK2/p-ERM signaling and impairs actin cytoskeletal regulation in auditory cells.

International journal of medical sciences

Endothelial TIE2 Mutation Induced Contraction Deficiency of Vascular Smooth Muscle Cells via Phenotypic Transition Regulation in Venous Malformations.

International journal of pediatric otorhinolaryngology

Utility of interval direct laryngoscopy and bronchoscopy in tracheostomy-dependent infants: A retrospective longitudinal chart review.

Clinicopathologic and Molecular Characterization of SMARCB1-Deificient Sinonasal Carcinomas -A Systematic Study from a Single Institution Cohort.

The Journal of craniofacial surgery

From Fusion to Function: Clinical Insights and Therapeutic Strategies in Syngnathia.

Application of sirolimus in an infant presenting with a life-threatening lymphatic malformation of the head and neck: a case report.

Frontiers in pediatrics

Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2.

Frontiers in pediatrics

Transcriptomic Features of Recurrence Rates in Idiopathic Subglottic Stenosis.

Cancer diagnosis & prognosis

Facial Diffuse Plexiform Neurofibroma-associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years.

Medical oncology (Northwood, London, England)

Three-dimensional in vitro models in head and neck cancer: current trends and applications.

European surgical research. Europaische chirurgische Forschung. Recherches chirurgicales europeennes

Pig Models in Translational Surgery.

Drug discoveries & therapeutics

Generation and characterization of a humanized GJB2 p.V37I knock-in mouse model for studying age-related hearing loss.

The Lancet. Global health

Aetiologies, neuroradiological features, and risk factors for mortality and long-term neurosequelae of febrile coma in Malawian children: a prospective cohort study.

Fetal and pediatric pathology

Thoracic Giant Venous Malformation in a Stillbirth with Pik3ca Somatic Mutation.

Nkx2.7 is a conserved regulator of craniofacial development.

Nature communications

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

[Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].

Respiratory investigation

Primary ciliary dyskinesia in a Japanese woman caused by a novel RSPH4A variant.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Respiratory and craniofacial management in children with Apert syndrome.

Germline Genetic Testing in Patients with Bone and Soft Tissue Sarcoma: A Prospective Multicenter Study to Evaluate Cancer Susceptibility.

Embryological cellular origins and hypoxia-mediated mechanisms in PIK3CA-driven refractory vascular malformations.

EMBO molecular medicine

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Genome research

Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct.

Human mutation

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Cytoplasmic p53 Immunostaining in Salivary Duct Carcinoma: A Poor Prognostic Factor Associated With Characteristic TP53 Variants.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Using T7 endonuclease I to detect SLC26A4 mutations in children with large vestibular aqueduct syndrome, with or without Mondini malformation and assess cochlear implant outcomes.

Dynamic single-cell transcriptomic reveals the cellular heterogeneity and a novel fibroblast subpopulation in laryngotracheal stenosis.

Biology direct

Zhonghua bing li xue za zhi = Chinese journal of pathology

[Vascular malformation in head and neck: a clinicopathological analysis of 675 cases].

Critical reviews in oncology/hematology

Biomarkers for predicting second primary malignancy risk in head and neck squamous cell carcinoma: An integrated molecular perspective.

JAMA otolaryngology-- head & neck surgery

Incidence and Factors Associated With Spontaneous Regression in Head and Neck Lymphatic Malformations.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

Familial Congenital Ossicular Anomaly: A Case Report.

Dental and craniofacial manifestations in sponastrime dysplasia - An observational study.

Bone

Molecular medicine (Cambridge, Mass.)

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

Localized Knockout of E-Cadherin in Subglottic Mucosa Increases Fibrosis.

Acta dermato-venereologica

Basal Cell Nevus Syndrome and Sporadic Basal Cell Carcinoma: A Comparative Study of Clinicopathological Features.

Seminars in radiation oncology

Predictors of Radiation Resistance and Novel Radiation Sensitizers in Head and Neck Cancers: Advancing Radiotherapy Efficacy.

International journal of pediatric otorhinolaryngology

Adenotonsillectomy success for treating obstructive sleep apnea in children with Prader-Willi syndrome.

Harnessing State-of-the-Art Gene Therapy to Transform Oral Cancer Treatment.

Biochemical genetics

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India

Nasopharyngeal Angiofibroma: Karyotyping Profile and Florescent In-Situ Hybridization Analysis with C-Myelocytomatosis, Tumor Suppressor p53 and CEP-X/Y Probes.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

Characterizing the Cellular Constituents of Proximal Airway Disease in Granulomatosis With Polyangiitis.

Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients.

Cancer letters

Cellular blueprint of healthy and diseased human epiglottis and subglottis-a study of the Canadian Airways Research (CARE) group.

EBioMedicine

Cohort-level clinical trajectory and molecular landscape of idiopathic subglottic stenosis for precision laryngology-a study of the Canadian Airways Research (CARE) group.

EBioMedicine

Cell communication and signaling : CCS

Impact of POU3F4 mutation on cochlear development and auditory function.

American journal of human genetics

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

American journal of rhinology & allergy

Efficacy and Safety of a Medical Robot for Non-Face-to-Face Nasopharyngeal Swab Specimen Collection: Nonclinical and Clinical Trial Findings for COVID-19 Testing.

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

[Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss].

Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.

Genes

ctdsp2 Knockout Induces Zebrafish Craniofacial Dysplasia via p53 Signaling Activation.

Journal of medical genetics

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4.

Foot & ankle international

Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet.

Orphanet journal of rare diseases

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.

Brain : a journal of neurology

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model.

PloS one

The role of BRAF testing of Rathke's cleft cysts to identify missed papillary craniopharyngioma.

Pituitary

Journal of dermatological science

Melatonin mitigates UV-induced tumorigenesis and suppresses hearing function deterioration in Xpa-deficient mice.

Head and Neck Classic Hodgkin, T and NK Lymphomas with Eosinophilia.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Long-Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model.

Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors.

Diagnostic pathology

Acta of bioengineering and biomechanics

Morphometric assessment of mandibles with complications resulting from temporomandibular joint ankylosis in children from 4 months to 3 years of age.

Journal of stomatology, oral and maxillofacial surgery

Insights into the use of DNA content in head and neck squamous cell carcinoma as a method for patient stratification and targeted therapy: Revisiting old concepts and exploring new possibilities.

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.

Genes

European journal of human genetics : EJHG

Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.

Immune evasion through mitochondrial transfer in the tumour microenvironment.

Nature

International journal of pediatric otorhinolaryngology

Genotypes and clinical phenotypes of pediatric patients with NOG variants: Middle ear surgical outcomes from a Tertiary Center in South Korea.

Head and neck paraganglioma in Pacak-Zhuang syndrome.

JNCI cancer spectrum

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Supraglottoplasty outcomes and peri-operative care in congenital laryngomalacia.

Segmental Odontomaxillary Dysplasia: Unusual Tumoral Lesion.

Mural Cells Initiate Endothelial-to-Mesenchymal Transition in Adjacent Endothelial Cells in Extracranial AVMs.

Cells

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.

Neurogenetics

Cryo-EM structure and oligomerization of the human planar cell polarity core protein Vangl1.

Nature communications

American journal of otolaryngology

Hearing loss trajectory and prediction model for children with enlarged vestibular aqueduct.

International journal of oral and maxillofacial surgery

Premalignant lesions of the oral cavity: a narrative review of factors and mechanisms of transformation into cancer.

American journal of physiology. Cell physiology

Dysregulation of synaptic transcripts underlies network abnormalities in ALS patient-derived motor neurons.

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

Clinical genetics

The American journal of pathology

Tmco1-Deficient Mice Exhibit a High Incidence of Otitis Media Associated with Impaired Bone Homeostasis in the Middle Ear.

Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial.

Angiogenesis

Cochlear implants international

Cochlear implant in Wolfram syndrome: A case report.

Otolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review.

Cureus

The British journal of dermatology

Ribosomal protein L36-mediated selective loading of microRNA-4432 into extracellular vesicles contributes to perivascular cell dysfunction in venous malformations.

Journal of dental research

Targeting Epigenetic Dysregulations in Head and Neck Squamous Cell Carcinoma.

Investigating the Influence of a Tooth Absence on Facial Bone Growth Using a Porcine Model.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Hereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle.

Veterinary pathology

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

Genetics of Nonsyndromic Microtia and Congenital Aural Atresia: A Scoping Review.

Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review.

Cureus

Airway Management With Congenital Tracheal Stenosis: Surgical and Anesthetic Consideration.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Adults with Down syndrome and obstructive sleep apnea treated with hypoglossal nerve stimulation.

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.

Current oncology (Toronto, Ont.)

Molecular Markers in Follicular and Oncocytic Thyroid Carcinomas: Clinical Application of Molecular Genetic Testing.

Normal male fertility in a mouse model of KPNA2 deficiency.

PloS one

Journal of speech, language, and hearing research : JSLHR

Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

Journal of translational medicine

CTPAD: an interactive web application for comprehensive transcriptomic profiling in allergic diseases.

International cancer conference journal

A case of selpercatinib treatment for anaplastic thyroid carcinoma resulting in abscess formation.

Upper Airway Stimulation for Children and Adolescents with Down Syndrome: Long-Term Follow-Up.