Results 21 to 30 of about 211 (109)

Epidemiology and Surgical Management of Hirschsprung's Disease in France: A 12‐Year Retrospective Analysis (2012–2023)

Acta Paediatrica, Volume 114, Issue 10, Page 2526-2534, October 2025.
ABSTRACT Aim Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system, leading to functional intestinal obstruction in neonates and young children. This study aimed to assess the epidemiology and surgical management of HSCR in France over a 12‐year period using nationwide data.
Xavier Xu Wang, Wilguy Doisy, Seydou Goro, Sadek Harichane, Mathilde Rousseau, Marc Bellaiche, Camille Jung   +6 more
wiley   +1 more source

Síndrome de Waardenburg: clasificación clínica de una familia Waardenburg's syndrome: clinical classification of a family

Revista de Ciencias Médicas de Pinar del Río, 2012
Introducción: El síndrome de Waardenburg (SW) es una entidad infrecuente, hereditaria, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y su cuadro clínico no está completamente definido.
Fidel Castro Pérez, José Guillermo Sanabria Negrín, Reinaldo Menéndez García   +2 more
doaj  

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

Color del iris e hipoacusia en el Síndrome de Waardenburg. Pinar del Río, Cuba Color of the iris and hypoacusis in Waardenburg Syndrome. Pinar del Rio, Cuba

Revista de Ciencias Médicas de Pinar del Río, 2012
Introducción: Aunque se han descrito hipoacusia neurosensorial y cambios de color en el iris, la relación entre estos no ha sido estudiada previamente.
Fidel Castro Pérez, José Guillermo Sanabria Negrín, Reinaldo Menéndez García, Rolando Jesús Iviricu Tielves, Julián Santana Oruña   +4 more
doaj  

Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
We reported a 5‐generation family with autosomal dominant Waardenburg syndrome and identified a heterozygous variant of the SOX10 gene by exome sequencing and Sanger sequencing. In addition, we performed prenatal diagnosis for family related individual.
Fei Hou, Yan Li, Luquan Cao, Yan Zhao, Shan Shan, Hua Jin   +5 more
wiley   +1 more source

Trastornos oculares y otras enfermedades en casos con síndrome de Waardenburg Ocular disorders and other diseases in patients suffering from Waardenburg’s syndrome

Revista de Ciencias Médicas de Pinar del Río, 2012
Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones ...
Fidel Castro Pérez, José Guillermo Sanabria Negrín, Julián Santana Oruña, Rolando Jesús Iviricu Tielves, Deyaniris Gelis Pérez   +4 more
doaj  

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

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

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

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +1 more source