Clinical and genetic basis of congenital gonadotropin deficiency.

Evaluation of cochlear angular orientation in patients with CHARGE syndrome.

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

Anxiety and obsessive-compulsive disorder (OCD) in adults with CHARGE syndrome.

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant.

Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.

Choroidal Cavitations within Optic Nerve Colobomas in CHARGE Syndrome.

Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.

Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.

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

Cochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Cochlear implantation in patients with CHARGE syndrome: a 10-year institutional experience and literature review.

[Genetic analysis of four children with CHARGE syndrome and a literature review].

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Olfactory dysfunction in CHARGE syndrome: a systematic review of prevalence, assessment methods, and clinical correlates.

New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.

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

Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.

Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.

CHARGE Syndrome and Scoliosis: A Multicenter Study Highlighting Elevated Surgical Complications.

Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE Syndrome.

Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.

The CHD Protein, Kismet, Restricts Synaptic BMP Signaling at Glutamatergic Synapses.

Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.

Newborn nasal obstruction: Rare anatomical causes to consider.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Trends in U.S. National Institutes of Health Funding for CHARGE Syndrome Research, 2000 to 2024.

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypes.

Airway management in CHARGE syndrome, devising a well tolerated approach: Principio del formulario.

Bilateral Choanal Atresia With Facial Deformity.

Molecular mechanism, diagnosis, and treatment of VACTERL association.

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.

A Comparison of Speech Outcomes Among Patients With Syndromic Cleft Palate: A 20-year Review.

CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation-Related Quality of Life.

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

A novel cardiomyopathy phenotype linked to a CHD7 missense variant.

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.

Coronal Clival Cleft in CHARGE Syndrome: Fetal MRI Series.

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

CHD7 binds distinct regions in the Sox11 locus to regulate neuronal differentiation.

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls.

Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

Mutation of CHD7 impairs the output of neuroepithelium transition that is reversed by the inhibition of EZH2.

Evaluating the Global Intensive Feeding Therapy (GIFT) for Children with CHARGE Syndrome: A Quasi-Experimental Study.

Atlas of imprinted and allele-specific DNA methylation in the human body.

[Clinical features of CHARGE syndrome in children].

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia.

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.

Utility of word embeddings from large language models in medical diagnosis.

A case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.

A Case Series and Brief Review of Literature on Encapsulating Peritoneal Sclerosis: Unveiling the Cocoon.

Audiologic Outcomes After Cochlear Implantation in Prelingually Deaf Children Who Have Combined Anomalies or Disabilities.

Hearing implants in pediatrics with cochlear nerve deficiency: an updated systematic review.

A case report of CHARGE syndrome caused by a de novo CHD7 gene mutation.

[CHARGE syndrome in a neonate].

Deciphering HMGB1: Across a spectrum of DNA and nucleosome dynamics.

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.

Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.

Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report.

Characteristics, associations, and outcomes of children with posterior segment coloboma.

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].

Kismet/CHD7/CHD8 and Amyloid Precursor Protein-like Regulate Synaptic Levels of Rab11 at the Drosophila Neuromuscular Junction.

[Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene].

Human Genetics of Hypoplastic Left Heart Syndrome.

Human Genetics of Truncus Arteriosus.

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Human Genetics of Ventricular Septal Defect.

Human Genetics of Atrial Septal Defect.

Bilateral Choanal Atresia in a 42-year-old Patient: A Rare Condition Case Report.

Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness.

Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.

CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.

Clinical Portrait of Cochlear Implantation in Patients With CHARGE Syndrome.

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

CHARGE syndrome with both primary and secondary hypogonadism.

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases.

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.

Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description.

The CHD family chromatin remodeling enzyme, Kismet, promotes both clathrin-mediated and activity-dependent bulk endocytosis.

CHARGE syndrome with early fetal ear abnormalities: A case report.

CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.

CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.

Monodactyly in a patient with CHARGE syndrome: An additional case report.

Effects of 4 Testing Arena Sizes and 11 Types of Embryo Media on Sensorimotor Behaviors in Wild-Type and chd7 Mutant Zebrafish Larvae.

Antenatal ultrasound findings in choanal atresia: A case report and review of the literature.

Anesthetic management in a Tessier cleft child with CHARGE syndrome: A new association?

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.

Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology.

Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

Associated anomalies in anophthalmia and microphthalmia.

Giving Voice to Cardiovocal Syndrome: A 26-Year-Old Woman With Hypophonia and Dysphagia.

Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study.

Generation and characterization of Chd7-iCreERT2-tdTomato mice.

Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome.

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.

Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.

[Clinical Management of Choanal Atresia].

Deletion of the chd7 Hinders Oligodendrocyte Progenitor Cell Development and Myelination in Zebrafish.

CHARGE syndrome and congenital heart diseases: systematic review of literature.

The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.

Time-resolved quantitative proteomic analysis of the developing Xenopus otic vesicle reveals putative congenital hearing loss candidates.

CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Effects of 4 testing arena sizes and 11 types of embryo media on sensorimotor behaviors in wild-type and chd7 mutant zebrafish larvae: Media and arena size impact zebrafish behavior.

[AUDITORY BRAINSTEM IMPLANTS (ABI) IN CHILDREN: CASE SERIES IN SHAARE ZEDEK MEDICAL CENTER].

Complete Isolation of Left Innominate Artery in a Patient With CHARGE Syndrome: Case Presentation and Review of Reported Cases.

Analysis of the CHD7 gene mutations in patients of congenital heart disease with extracardiac malformations.

Generalized keratosis pilaris induced by testosterone injections in a patient with CHARGE syndrome.

Corrigendum to: CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant.

A novel CHD7 variant in a chinese family with CHARGE syndrome.

Co-Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management.

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes.

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.

Practical Tips for Surgical Management of Bilateral Choanal Atresia.

Neonatal stridor presents at home - vocal fold paralysis as rare presenting feature of CHARGE syndrome.

Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic.

Oculo auriculo vertebral spectrum and CHARGE association.

CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.

Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.

Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes.

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Analysis of specific risk factors of neurodevelopmental disorder in hearing-impaired infants under ten months of age: "EnTNDre" an opening research stemming from a transdisciplinary partnership.

Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.

The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.

Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.

A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

Management of Choanal Atresia: National Recommendations with a Comprehensive Literature Review.

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.

Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells.

Urticaria in a Term Infant with CHARGE Syndrome.

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome.

Acute myeloid leukemia associated with CHARGE syndrome.

Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).

The Incidence and Outcomes for Children with Cleft Palate and/or Lip and CHARGE Syndrome.

CHARGE Syndrome and Comorbid Feeding Difficulties: A Summary of Outcomes following Behavior Analytic Treatment.

CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.

Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length.

Isolated Right Common Carotid Artery Arising from the Right Pulmonary Artery.

Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome.

Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion.

Evaluating Learning and Memory in Drosophila melanogaster to Study the Neurodevelopmental Impacts of Toxicants.

The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism.

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.

Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.

Comparison of vestibular ocular reflex and gross motor development in children with semicircular canal aplasia and hypoplasia.

Imaging of Congenital Craniofacial Anomalies and Syndromes.

Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.

Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome.

Isolated Balanced Complete Atrioventricular Septal Defects: Prenatal Detection and Outcome in Nevada.

Endoscopic Endonasal Repair of Congenital Choanal Atresia: Predictive Factors of Surgical Stability and Healing Outcomes.

[CHARGE syndrome in children with congenital choanal atresia].

Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression.

Surgical Management of Choanal Atresia: Two Classic Cases and Review of the Literature.

A case of Gross E esophageal atresia discovered following a unique clinical course.

[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].

CHD7 regulates bone-fat balance by suppressing PPAR-γ signaling.

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

The CHARGE syndrome ortholog CHD-7 regulates TGF-β pathways in Caenorhabditis elegans.

[Nursing Experiences Applying Swanson's Caring Theory to Assist a Family Confronting the Impact of an Infant With CHARGE Syndrome].

Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.

Cochlear Implant Outcomes in CHARGE Syndrome: Updated Perspectives.

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.

CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma.

[Perioperative management of cochlear implantation for CHARGE syndrome].

Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.

CHARGE syndrome-associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms.

De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.

Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics.

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.

[Retinochoroidal coloboma with optic nerve involvement in CHARGE syndrome].

Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.

[Cochlear implant and surgical intervention for CHARGE syndrome with laryngeal airway lesions].