Effective Connectivity Identifies Divergent Cerebro-Cerebellar Network Organization in Schizophrenia.

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Adipose tissue distribution and metabolic profile of young individuals with turner syndrome.

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).

Fertility preservation in patients with Turner syndrome: a SWOT analysis.

Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.

Experiences of patients and public partners in codesign of Lynch Choices™: an evaluation study using the Patient Engagement In Research Scale (PEIRS-22).

Paediatric inherited arrhythmia clinic: developing a new model of care.

Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.

Late Presentation of Brachial Plexus Traction Injury After Fixation of Chronic Clavicle Nonunion Mimicking Brachial Plexitis: A Case Report and Literature Review.

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.

Karyotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients.

Estrogen deficiency and risk of hearing loss in pediatric Turner syndrome.

Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.

Clinical and molecular features of ovarian stimulation in peripubertal girls with mosaic Turner's syndrome.

A case report on atypical chromosomal variations in Turner syndrome.

Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.

Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Madelung Deformity: A Current Concepts Review.

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.

Ultra-performance Liquid Chromatography-mass Spectrometry-based metabolic profiling of prepubertal children with Turner syndrome.

Characterizing molecular and behavioral changes arising from ROMK potassium channel deficiency in the cerebellum.

Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.

Growth patterns: Pathology vs. Normal variation.

Neuralgic amyotrophy: Incidence, specialty of diagnosing clinician, and delays in treatment.

Development of a registry to evaluate immobilized lipase cartridge use in pediatric patients with short bowel syndrome/intestinal failure.

Case Report: SPECT-CT-guided minimally invasive transverse process resection for Bertolotti syndrome.

Study design for an emulated trial of a 2 arm, parallel, stratified, adaptive, RCT of CABG versus PCI in people requiring myocardial revascularization at high risk (High-Risk REVASC).

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

Prevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome.

Parsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.

Phalangeal bone growth and implications in Turner syndrome.

Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.

Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm.

Improving diagnosis-specific knowledge of people with differences of sex development (DSD): Evaluation of the two-day Empower-DSD training course in Germany.

Prevalence and Changes in Genetic and Clinical Characteristics in Growth Hormone-Treated Belgian Girls with Turner Syndrome: A Study from the BELGROW Registry.

Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.

Diabetes in Turner syndrome: a distinct entity demanding specific therapeutic strategies.

ENDO-ERN expert opinion: addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe.

Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.

The biology and clinical aspects of female infertility.

Standardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.

A National Survey of Paediatric Turner Syndrome Services in the UK: Current Practice and Variability in Care.

Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records.

The Heretic King: Possible Diagnoses of Pharaoh Akhenaten.

Nerve injuries in cervical spine surgery via anterior approach: a comprehensive review.

Testicular cancer in intersex individuals: A systematic review for clinical practice.

Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).

Finding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.

Long-Term experience with growth hormone therapy in pediatric growth disorders: an analysis of the LG growth study data.

The surgical treatment of Parsonage-Turner Syndrome: A PRISMA scoping review.

A 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.

DXA Derived Low Bone Mass in a Cohort of Prepubertal Eastern Indian Girls With Turner Syndrome Disappeared Following Adjustment for Short Stature.

Predictors of spontaneous puberty - guiding of puberty induction in Turner syndrome.

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.

Bone health and body composition in Indian girls with Turner syndrome: analysis based on therapeutic interventions.

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

Mecp2 deficiency impairs microscale cortical network topology and dynamics in a Rett syndrome mouse model.

X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.

[Diaphragmatic Paralysis in Parsonage-Turner syndrome: beyond brachial neuralgia].

Real-World Evidence of Treatment Patterns and Costs of Turner Syndrome and Noonan Syndrome in the USA.

Serotonin Syndrome Versus Neuroleptic Malignant Syndrome in a Pediatric Patient Receiving Fluoxetine and Haloperidol: A Case Report.

Association between red blood cell transfusion and adverse clinical outcomes is Independent of cardiac history: a multicenter observational InPUT study analysis.

Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.

HSATII RNA-dependent triplex formation in early human embryogenesis as a potential mechanism for Y chromosome loss in Turner syndrome.

Establishing a prospective cohort to examine the impact of medication for opioid use disorder in pregnancy.

Headaches in a Patient With Turner Syndrome.

Prospective characterisation of drug-resistant bloodstream infections in Africa and Asia (ACORN2): a surveillance network assessment.

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.

The role of ultrasonography of the brachial plexus in differentiating between Parsonage-Turner syndrome and neuroborreliosis. A pictorial review.

A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature.

Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.

Clinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities.

Epidural Anesthesia in a Patient With Turner Syndrome: A Case Report.

Turner Syndrome and Hepatic Adenomas: A Case Report.

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

Bone Health Index (BoneXpert) and parameters of peripheral quantitative computed tomography indicate overall adequate bone health in adolescents with chronic endocrine diseases at time of transition.

Severe Coronary Artery Disease and Nearly Atretic Aortic Coarctation in a Young Woman.

Turner's Syndrome in Discordant Dizygotic Twins: Biological Origins and Twin Relations/Twin Research Reviews: Prevention of Premature Twin Birth; Twin Gestation with Hydatidiform Mole; Update on Feingold Syndrome Twins; Qualitative MZ Twin Difference Studies/Media: Identical Twins Turn 100 Years of Age; Twins in Famous Families; Celebration of Yorùbá Twins of Nigeria; Identical Artistic Partners; Rare Conjoined Twins Separated.

Synthesizing the latest guideline-based recommendations for the management of female hypogonadism.

Exercise capacity in girls with Turner syndrome.

Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.

Prenatal Screening for Monosomy X in the First Trimester: A Comparison of a Thai Predictive Model and the Fetal Medicine Foundation Algorithm.

A retrospective analysis of real-world height outcomes of growth hormone treatment in Syrian children.

Reconstruction of Thumb and Index Flexion in High Median Nerve Paralysis Using a Single Radial Wrist Extensor Tendon Transfer.

A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review.

Letter to Editor: "Unusual Association of 45,X/46,XY Mosaic Turner Syndrome and Müllerian Agenesis".

Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study.

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).

The Structural Basis for Pacs1-Wdr37 Complex Assembly and Stability.

Shape analysis of the amygdala, hippocampus and thalamus in former American football players.

Ring Y chromosome as an unusual cause of severe oligozoospermia.

Complete Labial Fusion Causing Urinary Retention and Pyo-Hematocolpos in a Female With Turner Syndrome.

Loss of circulating glucocorticoid rhythm disrupts the circadian transcriptome and vascular reactivity in the mouse renal artery.

The Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome.

Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis.

Meta-Analysis: Liver Disease Burden and Associated Factors in Turner Syndrome.

Epidemiology of Neuralgic Amyotrophy-A Retrospective Analysis of Data From a Large German Health Insurance Company.

Clinical Genetic Study of Mosaic Pseudoisodicentric X Chromosome Patient.

Global Prevalence of Infertility Attributable to Sex Chromosome Abnormalities: Insights from the Global Burden of Disease Study.

Low Bone Mass is Common and Associated with Delayed Estrogen Replacement Therapy in Adult Brazilian Women with Turner Syndrome.

Global burden and between-country inequalities in Turner syndrome from 1990 to 2021.

Parsonage-Turner Syndrome: An Unusual Cause of Postoperative Complications.

Antenatal Corticosteroids and Neonatal Outcomes Among Patients With Twin Gestations at Risk for Late Preterm Birth.

Growth hormone therapy and chromosomal mosaicism in turner syndrome: 25 years of growth outcomes in Taiwan.

Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review.

Unusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant.

Analysis of Risk Factors and Prediction Model of Chromosomal Abnormalities in Embryos from Patients with Missed Miscarriage.

Parsonage-Turner Syndrome and Vocal Fold Paresis Following Soberana 2 FINLAY-FR-2 COVID-19 Vaccination: A Case Report.

Quantitative MRI of Muscle Denervation in Subacute Parsonage-Turner Syndrome: A Prospective, Longitudinal Study.

Hourglass-Like Constriction of the Brachial Plexus in an Adult Patient: A Case Report.

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)-A Novel Cause of Premature Ovarian Insufficiency.

A Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome.

Oral Manifestations in Adolescents with Genetic Syndromes: A Retrospective Cross-Sectional Study.

Co-occurrence of memory impairment and fatigue distinguishes post COVID from pandemic-related health effects in the 4-year CON-VINCE cohort study.

Detection of urothelial carcinoma in Lynch syndrome using microsatellite instability analysis of urine cell-free DNA.

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.

Fentanyl exposure during preconception and gestation permanently dysregulates endogenous opioid peptides and sympathoadrenal-medullary axis in the offspring.

Hormonal risk factors and androgen and glucocorticoid dysregulation in Sjogren's disease and non-Sjogren's sicca.

Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.

Considerations when caring for a child with "male Turner Syndrome".

Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality.

The Process of Pubertal Induction in Girls with Turner Syndrome: From Patients' and Family's Perspective.

Exploring Proof of Concept for a Novel Web-Based Self-Management Support Intervention for Polycystic Ovary Syndrome: Multimethod Study.

Evaluation and Management of Recurrent Atrial Flutter in Neonates.

First Trimester Echogenic Lung Lesions: A Diagnostic Challenge and Review of Differential Diagnoses.

Generation and characterization of a knockout mouse of an enhancer of EBF3.

Combined Application of Multiple Technologies in Prenatal Diagnosis of a Fetus with Mosaic Isodicentric Y Chromosome.

Minipuberty as a window into the reproductive future for girls with Turner syndrome: is the image clear?

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Mosaic Turner Syndrome and Treatment-Resistant Schizophrenia.

Pregnancy in Women with Turner Syndrome: Balancing Reproductive Advances with Maternal Safety.

Sulcal morphology in former American football players.

Fertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians: A Pilot Cross-Sectional Survey Study.

Sprint National Anaesthesia Project 3: A Survey of the Workload Generated by Older Surgical Patients Referred to On-Call Medical Registrars in Australia.

Circulating Microclots Are Structurally Associated With Neutrophil Extracellular Traps and Their Amounts Are Elevated in Long COVID Patients.

Single-cell transcriptomics of organoids reveals transcriptional control of germline stem cell fate by an E2F1-TFAP2C-SOX17 positive-feedback loop in Turner syndrome.

Diffuse Pulmonary Meningotheliomatosis Presenting with the Cheerios Sign Diagnosed by a Transbronchial Lung Cryobiopsy: A Case Report.

Electroconvulsive Therapy for Refractory Auditory Hallucinations in Turner Syndrome.

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report.

Anti-Müllerian hormone as a biomarker of ovarian function and spontaneous puberty in Turner syndrome: a systematic review.

Neurological manifestations of Mpox virus during the recent global outbreak: a systematic review.

Serum Neurofilament Light Chain Level as an Indicator of Axonal Injury in Parsonage-Turner Syndrome (Neuralgic Amyotrophy).

How Does Turner Syndrome Affect Quality of Life? A Systematic Review.

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Evaluating and predicting Klinefelter and Turner syndrome burden in China from 1990 to 2021: A study based on the global burden of disease database.

Two Physiologic Latent Classes of Acute Hypoxemic Respiratory Failure in Sepsis Are Distinguished by Lung Mechanics and Gas Exchange.

Clinicopathological Challenge: Fixed Urticaria-Like Pink Papules in a Patient With Recurrent Fevers and Arthralgias.

Approach to the Patient With Turner Syndrome.

From Replacement to Tailoring: Evolving Concepts in the Therapy for Short Stature.

Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.

Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.

Patients with Neuralgic Amyotrophy Commonly Visit the Emergency Department Without Receiving a Correct Diagnosis.

Turner syndrome with pulmonary arteriovenous malformation: a case report.

A pathway to next-generation mast cell stabilizers identified through the novel Phytomedical Analytics for Research Optimization at Scale data platform.

High-level mosaicism for 45,X in 45,X/46,XY at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, a 45,X placenta, hypospadias and unilateral cryptorchidism in the fetus without adverse fetal outcome and perinatal progressive decrease of the 45,X cell line.

Rapid postnatal diagnosis of Turner syndrome by array comparative genomic hybridization using extraembryonic tissues in a pregnancy associated with hydrops fetalis, pleural effusion and cystic hygroma on second-trimester ultrasound.

Adverse childhood experiences and cardiometabolic risk factors in people with bipolar disorder.

High frequency of balance abnormalities in Turner syndrome.

Case report: Cervical artery dissection in a patient with Turner Syndrome.

Edwards syndrome: Neurocognitive and linguistic profile, diagnosis, overlaps and treatment.

44,X,der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27] a Case Study of Mosaicism with Menstrual Disorders.

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Cardiovascular outcomes and aortic growth in pregnant women with Turner syndrome: data from the ESC EORP Registry Of Pregnancy And Cardiac disease (ROPAC) III.

Association of coarctation of aorta with Turner syndrome: a case report.

Epigenetic age acceleration in Turner and Klinefelter syndrome: Correlations with clinical aging markers.

45, X/46, XY mosaicism and gender incongruence: ethical, medical, and psychological considerations.

Analysis of influencing factors on Turner syndrome combined with autoimmune thyroid disease.

Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.

Cardiovascular abnormalities in children with Turner syndrome: a 15-year retrospective study and analysis of warning signs.

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants.

Screening for acute hepatic porphyria in postural tachycardia syndrome.

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.

"More Than Just the Two Percent": The reproductive politics of envisioning abortion and miscarriage in Turner syndrome.

Lifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients.

Diagnostic value of cardiac magnetic resonance imaging during transition care in adolescents with Turner syndrome.

Generalized Pustular Psoriasis as a Systemic Inflammatory Disease: Experience With 38 Japanese Cases Over 15 Years at a Single Institution.

Outcomes of Fontan patients undergoing combined heart-liver transplantation in pediatric hospitals across the United States.

Virilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.

Comparison of the analytical and clinical sensitivities of 34 rapid antigen tests with prevalent SARS-CoV-2 variants of concern during the COVID-19 pandemic in the UK.

Incidence of hypothyroidism in girls with Turner syndrome in Korea on the basis of real-world evidence from the Korean National Health Insurance Service database.

Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.

Perception and Attitude towards Fertility and Fertility Preservation Options in Parents of Children With Turner Syndrome: A Qualitative Survey Study.

Landing zones optimization using transcatheter electrosurgical septotomy for endovascular repair of post-dissection aortic aneurysms.

Unnerving Cough in CANVAS: Cough Hypersensitivity Despite Airway Nerve Depletion.