Results 121 to 130 of about 256,394 (202)
Movement Disorders, EarlyView.Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux +11 more
wiley +1 more source
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto +4 more
wiley +1 more source
Monilethrix Presenting With Diffuse Fragile Hair in an Adult Female
JEADV Clinical Practice, EarlyView.
Mandy Robertson, Jeffrey Donovan
wiley +1 more source
Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley +1 more source
Evaluation of Inheritance Pattern in Mentally Retarded Children
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2011 Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city.
F Behnaz +3 more
doaj
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance
, 1997 Sorsby fundus dystrophy (SFD) originally was characterized as an autosomal dominant disorder in which patients lose central vision during the 4th or 5th decade of life.
Weber, Bernhard H. F. +4 more
core
Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community
Prenatal Diagnosis, EarlyView.ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum +4 more
wiley +1 more source
Hyperimmunoglobulin E syndrome: A case report
مجله دانشکده دندانپزشکی اصفهان, 2012 Introduction: Hyperimmunoglobulin E or Job’s syndrome is a rare congenital immune system disorder characterized by the classic triad of high serum IgE levels, severe eczematous dermatitis, and recurrent skin and lung infections.
Samaneh Badakhsh +3 more
doaj
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source