SOX10 mutations in patients with Waardenburg-Hirschsprung disease V Pingault, N Bondurand, K Kuhlbrodt, DE Goerich, MO Préhu, A Puliti, ... Nature genetics 18 (2), 171-173, 1998 | 949 | 1998 |
Review and update of mutations causing Waardenburg syndrome V Pingault, D Ente, F Dastot‐Le Moal, M Goossens, S Marlin, ... Human mutation 31 (4), 391-406, 2010 | 634 | 2010 |
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome N Bondurand, V Pingault, DE Goerich, N Lemort, E Sock, CL Caignec, ... Human molecular genetics 9 (13), 1907-1917, 2000 | 605 | 2000 |
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease B Herbarth, V Pingault, N Bondurand, K Kuhlbrodt, I Hermans-Borgmeyer, ... Proceedings of the National Academy of Sciences 95 (9), 5161-5165, 1998 | 456 | 1998 |
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 N Bondurand, F Dastot-Le Moal, L Stanchina, N Collot, V Baral, S Marlin, ... The American Journal of Human Genetics 81 (6), 1169-1185, 2007 | 301 | 2007 |
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease V Cacheux, F Dastot-Le Moal, H Kääriäinen, N Bondurand, R Rintala, ... Human molecular genetics 10 (14), 1503-1510, 2001 | 259 | 2001 |
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot–Marie–Tooth disease, is directly regulated by the transcription factor SOX10 N Bondurand, M Girard, V Pingault, N Lemort, O Dubourg, M Goossens Human molecular genetics 10 (24), 2783-2795, 2001 | 254 | 2001 |
Neuron and glia generating progenitors of the mammalian enteric nervous system isolated from foetal and postnatal gut cultures N Bondurand, D Natarajan, N Thapar, C Atkins, V Pachnis Oxford University Press for The Company of Biologists Limited 130 (25), 6387 …, 2003 | 253 | 2003 |
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness V Pingault, V Bodereau, V Baral, S Marcos, Y Watanabe, A Chaoui, ... The American Journal of Human Genetics 92 (5), 707-724, 2013 | 213 | 2013 |
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism V Pingault, M Girard, N Bondurand, H Dorkins, L Van Maldergem, ... Human genetics 111, 198-206, 2002 | 212 | 2002 |
Maintenance of mammalian enteric nervous system progenitors by SOX10 and endothelin 3 signalling N Bondurand, D Natarajan, A Barlow, N Thapar, V Pachnis Oxford University Press for The Company of Biologists Limited 133 (10), 2075 …, 2006 | 188 | 2006 |
Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients K Kuhlbrodt, C Schmidt, E Sock, V Pingault, N Bondurand, M Goossens, ... Journal of Biological Chemistry 273 (36), 23033-23038, 1998 | 181 | 1998 |
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development L Stanchina, V Baral, F Robert, V Pingault, N Lemort, V Pachnis, ... Developmental biology 295 (1), 232-249, 2006 | 149 | 2006 |
Expression of the SOX10 gene during human development N Bondurand, A Kobetz, V Pingault, N Lemort, F Encha-Razavi, G Couly, ... FEBS letters 432 (3), 168-172, 1998 | 144 | 1998 |
White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies AJ Burns, AM Goldstein, DF Newgreen, L Stamp, KH Schäfer, M Metzger, ... Developmental biology 417 (2), 229-251, 2016 | 138 | 2016 |
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies N Bondurand, K Kuhlbrodt, V Pingault, J Enderich, M Sajus, N Tommerup, ... Human Molecular Genetics 8 (9), 1785-1789, 1999 | 130 | 1999 |
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo‐obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 mutation V Pingault, A Guiochon‐Mantel, N Bondurand, C Faure, C Lacroix, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 115 | 2000 |
The role of SOX10 during enteric nervous system development N Bondurand, MH Sham Developmental biology 382 (1), 330-343, 2013 | 113 | 2013 |
Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome A Chaoui, Y Watanabe, R Touraine, V Baral, M Goossens, V Pingault, ... Human mutation 32 (12), 1436-1449, 2011 | 89 | 2011 |
How tissue mechanical properties affect enteric neural crest cell migration NR Chevalier, E Gazquez, L Bidault, T Guilbert, C Vias, E Vian, ... Scientific reports 6 (1), 20927, 2016 | 68 | 2016 |