|1.||Pingault, Veronique: 6 articles (09/2015 - 07/2006)|
|2.||Bondurand, Nadege: 6 articles (09/2015 - 07/2006)|
|3.||Baral, Viviane: 5 articles (09/2015 - 07/2006)|
|4.||Goossens, Michel: 5 articles (09/2012 - 08/2002)|
|5.||Lecerf, Laure: 3 articles (09/2015 - 09/2012)|
|6.||Stanchina, Laure: 3 articles (05/2010 - 07/2006)|
|7.||Kavo, Anthula: 2 articles (09/2015 - 03/2014)|
|8.||Chaoui, Asma: 2 articles (09/2015 - 03/2014)|
|9.||Watanabe, Yuli: 2 articles (09/2015 - 03/2014)|
|10.||Inoue, Ken: 2 articles (08/2015 - 12/2002)|
|1.||Hirschsprung Disease (Hirschsprung's Disease)
06/01/2009 - "Waardenburg-Shah syndrome patients have a higher incidence of total colonic aganglionosis with or without small bowel involvement. "
04/15/2008 - "A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease."
12/01/2005 - "Homozygous mutations of EDNRB in human have been reported to result in Waardenburg-Hirschsprung disease (WS4), while mutated heterozygotes manifested isolated Hirschsprung disease in lower penetrance. "
08/01/2003 - "Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome."
11/01/2001 - "Waardenburg-Shah syndrome combines the reduced enteric nervous system characteristic of Hirschsprung's disease with reduced pigment cell number, although the cell biological basis of the disease is unclear. "
|2.||Deafness (Deaf Mutism)
10/01/2013 - "The involvement of SOX10 in Waardenburg-Hirschsprung disease (pigmentation defects, deafness and intestinal aganglionosis) and studies of mutant animal models have contributed significantly to the understanding of its function in neural crest cells (NCC) in general and in the melanocytes and enteric nervous system (ENS) in particular. "
09/01/2015 - "Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosis). "
01/01/2011 - "Moreover, we found that this mutation results in serious congenital sensorineural deafness, and these strains may be used as ideal models of Waardenburg Syndrome Type 4 (WS4). "
11/15/2001 - "Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and glial cells, are found in Shah-Waardenburg syndrome (WS4), a neurocristopathy that associates intestinal aganglionosis, pigmentation defects and sensorineural deafness. "
03/01/2014 - "A deletion encompassing several SOX10 enhancers was recently identified in a patient presenting with Waardenburg syndrome type 4 (WS4), which is defined as a combination of Hirschsprung disease (HSCR, intestinal aganglionosis) and WS (deafness and pigmentation defects). "
|3.||Waardenburg's Syndrome (Waardenburg Syndrome)
06/01/2011 - "For example, mutations in SOX10 result in a severe form of Waardenburg syndrome, Type IV, also known as Waardenburg-Hirschsprung disease, characterized by pigmentation and other neural crest defects, including defective innervation of the gut. "
01/01/2008 - "A case of Shah-Waardenburg syndrome, a rare variant of Waardenburg syndrome, is presented. "
07/01/1997 - "Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome. "
02/01/2012 - "In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, as defined in OMIM #609136) due to a novel heterozygous base exchange (c.671C>G) in exon 4 of SOX10. "
12/01/2014 - "Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. "
03/01/1999 - "Patients presenting with aganglionosis in association with hypopigmentation are classified as Waardenburg syndrome type 4 (Waardenburg-Shah, WS4). "
03/15/2002 - "This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. "
12/01/2000 - "Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2."
07/01/2006 - "The requirement for SOX10 and endothelin-3/EDNRB signalling pathway during enteric nervous system (ENS) and melanocyte development, as well as their alterations in Waardenburg-Hirschsprung disease (hypopigmentation, deafness and absence of enteric ganglia) are well established. "
08/26/2011 - "Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of Waardenburg-Shah syndrome with congenital hearing loss, hypopigmentation, and megacolon disease in mice and humans. "
01/01/2001 - "Haploinsufficiency of Sox10 can thus cause pigmentation and megacolon defects, which are also observed in Sox10(Dom)/+ mice and in patients with Waardenburg-Hirschsprung disease caused by heterozygous SOX10 mutations."
06/30/2000 - "Mutations in Sox10 have been identified as a cause of the Dominant megacolon mouse and Waardenburg-Shah syndrome in human, both of which include defects in the enteric nervous system and pigmentation (and in the latter, sometimes hearing). "
10/01/2006 - "The WS4 mouse is an animal model for human Waardenburg syndrome type 4 (WS4), showing pigmentation anomalies, deafness and megacolon, which are caused by defects of neural crest-derived cells. "
07/01/2004 - "In humans, mutations in this gene are associated with Waardenburg-Shah syndrome, a disorder characterized by pigmentation defects, deafness and megacolon. "
08/07/1998 - "SOX10, a new member of the SOX gene family, is a transcription factor defective in the Dom (Dominant megacolon) mouse and in the human Shah-Waardenburg syndrome. "
|1.||type 4 Waardenburg syndrome
|2.||Endothelin-3 (Endothelin 3)
|3.||Transcription Factors (Transcription Factor)
|4.||Hirschsprung disease 1
|5.||Endothelin B Receptor
|6.||Endothelin Receptors (Endothelin Receptor)