• A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development
• A case of Myhre syndrome mimicking juvenile scleroderma
• A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot
• A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
• A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4
• A pilot clinical trial with losartan in Myhre syndrome
• A Second Family with Myhre Syndrome Caused by the Same Recurrent <em>SMAD4</em> Pathogenic Variation (p.Arg496Cys)
• A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
• A single-centre, prospective cohort study of COVID-19 patients admitted to ICU for mechanical ventilatory support
• Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins
• An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes
• Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres
• Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
• Benefit of cochlear implantation in a patient with Myhre syndrome
• Benefits of Early Referral to Pediatric Palliative Care for a Child With a Rare Disease
• Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome
• Cardiac pathology 6 months after hospitalization for COVID-19 and association with the acute disease severity
• Cardiac troponin I and T for ruling out coronary artery disease in suspected chronic coronary syndrome
• Cardiac troponin T and NT-proBNP for detecting myocardial ischemia in suspected chronic coronary syndrome
• Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?
• Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole
• Changes in cardiac structure and function from 3 to 12 months after hospitalization for COVID-19
• Chronic graft-versus-host disease
• Clinical outcomes of combined surgical treatment of medial epicondylitis and cubital tunnel syndrome
• Corrigendum to "Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome"
• Developmental neurotoxicity of acrylamide and its metabolite glycidamide in a human mixed culture of neurons and astrocytes undergoing differentiation in concentrations relevant for human exposure
• Differential associations of cardiac troponin T and cardiac troponin I with coronary artery pathology and dynamics in response to short-duration exercise
• Does the food processing contaminant acrylamide cause developmental neurotoxicity? A review and identification of knowledge gaps
• Effect of Treatment of Premature Infants with Respiratory Distress Using Low-cost Bubble CPAP in a Rural African Hospital
• Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)
• Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway
• Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
• Experience with Saccharomyces boulardii Probiotic in Oncohaematological Patients
• First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation
• First case of Myhre syndrome with schizophrenia
• First documented case of Myhre syndrome in Romania: A case report
• From tall to short: the role of TGFβ signaling in growth and its disorders
• Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome
• Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
• Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2)
• Genetic basis of Myhre syndrome
• Growth Differentiation Factor 15 Provides Prognostic Information Superior to Established Cardiovascular and Inflammatory Biomarkers in Unselected Patients Hospitalized With COVID-19
• Increased interleukin 18 activity in adolescents with early-onset psychosis is associated with cortisol and depressive symptoms
• Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification
• Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
• Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome
• Lipid alterations in adolescents with early-onset psychosis may be independent of antipsychotic medication
• Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome
• Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome
• Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
• Myhre and LAPS syndromes: clinical and molecular review of 32 patients
• Myhre syndrome
• Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report
• Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding
• Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
• Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
• Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
• Myhre syndrome with facial paralysis and branch pulmonary stenosis
• Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy
• Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
• Myhre syndrome: a rare craniofacial disorder
• Myhre syndrome: a report of six Chinese patients and literature review
• Myhre syndrome: Age-dependent progressive phenotype
• Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
• Myhre syndrome: expanding its paediatric phenotypic spectrum
• Myhre syndrome: the first case in Korea
• Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions
• Natural history and life-threatening complications in Myhre syndrome and review of the literature
• Natural history of Myhre syndrome
• Negative and disorganized symptoms mediate the relationship between verbal learning and global functioning in adolescents with early-onset psychosis
• Negative Symptom Domains Are Associated With Verbal Learning in Adolescents With Early Onset Psychosis
• Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
• Novel SMAD4 mutation causing Myhre syndrome
• Performance of a Novel Research-Use-Only Secretoneurin ELISA in Patients with Suspected Acute Coronary Syndrome: Comparison with an Established Secretoneurin Radioimmunoassay
• Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype
• Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities
• Previous maltreatment and present mental health in a high-risk adolescent population
• Psychiatric manifestations of Myhre syndrome: A case report
• Recurrent pericarditis in Myhre syndrome
• Retinal involvement in two unrelated patients with Myhre syndrome
• Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in <em>SMAD4</em> cause a Multisystem Fibroproliferative Response
• Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
• Self-reported dietary fructose intolerance in irritable bowel syndrome: Proposed diagnostic criteria
• Severe Acute Respiratory Syndrome Coronavirus 2 RNA in Plasma Is Associated With Intensive Care Unit Admission and Mortality in Patients Hospitalized With Coronavirus Disease 2019
• Severe constipation in a patient with Myhre syndrome: a case report
• SMAD4 mutations and cross-talk between TGF-beta/IFNgamma signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome
• SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome
• SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
• SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
• Smad4 regulates growth plate matrix production and chondrocyte polarity
• SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome
• Superiority of high sensitivity cardiac troponin T vs. I for long-term prognostic value in patients with chest pain; data from the Akershus cardiac Examination (ACE) 3 study
• T cell therapy targeting a public neoantigen in microsatellite instable colon cancer reduces <em>in vivo</em> tumor growth
• The clinical importance of high-sensitivity cardiac troponin measurements for risk prediction in non-cardiac surgery
• The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity
• The Multifaceted Syndromic Primary Immunodeficiencies in Children
• The need to belong: Subjective experiences of living with craniofacial conditions and undergoing appearance-altering surgery
• Tibial Plateau Fractures Complicated by Compartment Syndrome are Associated with a Three Times Higher Cost of Care
• Tumor-suppressor Genes, Cell Cycle Regulatory Checkpoints, and the Skin
• Unusual cause of hoarse voice: Laryngotracheal histoplasmosis in renal transplant patient