Results 141 to 150 of about 14,863 (260)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment
Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023 MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD ...
Emily Mason +2 more
wiley +1 more source
Evaluation of maternal infusion therapy during pregnancy for fetal development
International Journal of Medical Sciences, 2005 The aim of this project was to study the possible association between maternal infusion treatments during pregnancy and variables of fetal development as well as the occurrence of congenital abnormalities (CA) in a case-control design.
doaj
Seasonal Variation in Congenital Abnormalities: Preliminary Report of a Survey Conducted by the Research Committee of Council of the College of General Practitioners [PDF]
, 1964 B. C. S. Slater +2 more
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Congenital Abnormalities [PDF]
Proceedings of the Royal Society of Medicine, 1924 openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
POST-OPERATIVE HAeMORRHAGE AND RELATED ABNORMALITIES OF BLOOD COAGULATION IN CYANOTIC CONGENITAL HEART DISEASE [PDF]
, 1965 J. Somerville, L McDonald, Marion Edgill
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson +14 more
wiley +1 more source