Results 71 to 80 of about 7,052 (205)

Colour Confusion: Reviewing Ambiguities in the Identification and Classification of Chromatophore Deficiencies Among Amphibians

Ecology and Evolution, Volume 15, Issue 9, September 2025.
The colour of amphibian skin and eyes is the result of light interacting with multiple chromatophores (xanthophores, iridophores and melanophores), leading to challenges when trying to identify which of these cells are involved in colour abnormalities.
John Gould
wiley   +1 more source

Syndrome de Waardenburg de Type 1 Chez un Nourrisson Centrafricain : Un Cas Illustrant les Défis du Diagnostic en Contexte de Ressources Limitées

Health Research in Africa
RÉSUMÉ Le syndrome de Waardenburg est une maladie génétique rare caractérisée par une surdité neurosensorielle et des anomalies de la pigmentation. Sa prévalence est estimée à 1/40 000 naissances.
Elien Gagnan YRR, Sylla A, Beyom Mereuh F, Yaya G   +3 more
doaj   +1 more source

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. [PDF]

PLoS ONE, 2016
The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a ...
Hong Wu, Yong Feng, Lu Jiang, Qian Pan, Yalan Liu, Chang Liu, Chufeng He, Hongsheng Chen, Xueming Liu, Chang Hu, Yiqiao Hu, Lingyun Mei   +11 more
doaj   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

Endogenous Retrovirus Insertion in the KIT Oncogene Determines White and White spotting in Domestic Cats [PDF]

, 2014
The Dominant White locus (W) in the domestic cat demonstrates pleiotropic effects exhibiting complete penetrance for absence of coat pigmentation and incomplete penetrance for deafness and iris hypopigmentation.
Connelly, Catherine J., Coots Wallace, Andrea, David, Victor A., Eizirik, Eduardo, Hannah, Steven S., Kehler, James, Leighty, Robert, Menotti-Raymond, Marilyn, Nelson, George, O\u27Brien, Stephen J., Roelke, Melody E., Ryugo, David K., Schaffer, Alejandro A.   +12 more
core   +2 more sources

Pigmentary Mosaicism: An Overview

JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.
Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant, E. Legius, N. Cattaert, M.‐A. Morren   +3 more
wiley   +1 more source

Familienuntersuchung zur Identifizierung einer Kandidatengenregion für eine autosomal-dominante, nicht-syndromale Form einer Mittel- bis Tieftonschwerhörigkeit [PDF]

, 2004
Die Beeinträchtigung des von Schwerhörigkeit betroffenen Menschen ist abhängig vom Schweregrad der Erkrankung sowie vom Alter des Einsetzens der Symptome.
Brodwolf, Susanne Katharina, Kunz Jürgen (HD Dr. rer.nat. )   +1 more
core   +1 more source

Categories of Cutaneous Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source

Síndrome de Waardenburg: las discapacidades y el aspecto físico, su vinculación con el rendimiento académico y las relaciones sociales Waardenburg's syndrome: disabilities and physical features, association with academic achievement and social relations

Revista de Ciencias Médicas de Pinar del Río, 2012
Introducción: el síndrome de Waardenburg es una entidad infrecuente, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y la discapacidad visual; se ha detectado en el municipio Sandino en Pinar del Río, una familia ...
Fidel Castro Pérez, José Guillermo Sanabria Negrín, Marisela Torres Capote, Rolando Jesús Iviricu Tielves, Heidy González Serrano   +4 more
doaj  

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration.
Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi   +6 more
doaj   +1 more source