Results 31 to 40 of about 7,052 (205)
A case of Waardenburg syndrome type I with congenital sensorineural hearing loss
Acta Oto-Laryngologica Case Reports, 2023 Waardenburg syndrome is a rare genetic disorder characterized by hearing loss in association with pigmentary defects of the skin, hair and eyes. It is caused by the gene mutation involved in the development of melanocyte.
Quang Minh Le-Tran +2 more
doaj +1 more source
Você conhece esta síndrome? Do you know this syndrome?
Anais Brasileiros de Dermatologia, 2007 Na síndrome de Waardenburg, genodermatose autossômica dominante, distúrbios da pigmentação (hipo ou acromia de pele e cabelos, heterocromia da íris) podem se associar a surdez, distopia do canto interno do olho e, eventualmente, outras malformações de ...
Erick Dancuart Omar +2 more
doaj +1 more source
Stem Cell Research, 2021 SOX10 is one of the master transcription factors in neural crest development. Human SOX10 mutations are associated with Waardenburg syndrome type 4 (Waardenburg-Shah, WS4), which can be inherited in both autosomal dominant and recessive patterns.
Tao Wang +3 more
doaj +1 more source
Pax proteins in embryogenesis and their role in nervous system development [PDF]
, 2013 The mammalian Pax genes encode a family of transcription factors, which play important roles in embryonic development and organogenesis. During the central nervous system development Pax genes have substantial roles in neural differentiation and regional
Arend, Andres +2 more
core +3 more sources
Indian Journal of Otolaryngology and Head and Neck Surgery, 2004 We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes).
Manish, Mehta +2 more
openaire +3 more sources
Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome:therapeutic perspectives for 5-HT1A agonists [PDF]
, 2014 Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system.
Abdala, Ana Paula +2 more
core +3 more sources
Waardenburg syndrome: A rare case
Oman Journal of Ophthalmology, 2018 Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children.
Shivlal M Rawlani +3 more
doaj +1 more source
Kerala Journal of Ophthalmology, 2022 A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally.
Shruthy Vaishali Ramesh +3 more
doaj +1 more source
Mechanism underlying synergic activation of Tyrosinase promoter by MITF and IRF4 [PDF]
, 2017 Background: The transcription factor interferon regulatory factor 4 (IRF4) was identified to be involved in human pigmentation by genome-wide association studies (GWASs).
Cai, Xinzhang +11 more
core +1 more source
Cost effective assay choice for rare disease study designs [PDF]
, 2015 High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue.
Campbell, DD +7 more
core +3 more sources