Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Penatalaksanaan Anestesi pada Pasien dengan Sindroma Apert yang Dilakukan Suturektomi
Jurnal Neuroanestesi Indonesia, 2013 Sindroma Apert adalah suatu gangguan genetik yang ditandai dengan penggabungan tulang yang terlalu dini (kraniosinostosis). Penggabungan dini tersebut menghambat pertumbuhan normal tulang dan mempengaruhi pertumbuhan bentuk kepala dan wajah. Penggabungan
Iwan Abdul Rachman +2 more
doaj +1 more source
Intellectual disability, unusual facial morphology and hand anomalies in sibs [PDF]
, 2013 Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two
Beales, PL +8 more
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Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]
, 2016 INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [PDF]
, 2014 Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital ...
Balasubramanian, M. +30 more
core +1 more source
National Journal of Clinical Anatomy, 2012 A case of macrodctyly of thumb and index fingers in a female aged fourteen years is reported here. This subject was found to have abnormally large thumb and index fingers of her right hand.
Arun Kumar S Bilodi
doaj +1 more source
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans [PDF]
, 2014 This is a freely-available open access publication. Please cite the published version which is available via the DOI link in this recordSplit-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression.
Birnbaum +28 more
core +1 more source
Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant
Prenatal Diagnosis, EarlyView.
Haley M. Crane +8 more
wiley +1 more source
The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases
MedComm, Volume 7, Issue 4, April 2026.Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi +5 more
wiley +1 more source
A Rare Case of Poland Syndrome with Absence of Ipsilateral Nasolacrimal Duct [PDF]
Indian Journal of Physical Medicine & Rehabilitation, 2008 First described in a cadaver examined by A. Poland atGuy’s Hospital in 1841, “this combined anomaly of webbedfingers(cutaneous syndactyly) of the hand on the sameside and the absence or underdevelopment of the sternocostalportion of ipsilateral ...
Gupta AK +5 more
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