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V Pingault

Showing results (1-10 of 19) with videos related to

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Human Molecular Genetics|December 6, 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 SOX10N Bondurand, M Girard, V Pingault, et al.
Genomics|January 1, 1997
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung diseaseV Pingault, A Puliti, M O Préhu, et al.
The Journal of Biological Chemistry|August 29, 1998
Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patientsK Kuhlbrodt, C Schmidt, E Sock, et al.
British Journal of Haematology|January 31, 1998
Interdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphismD Lasne, M Krenn, V Pingault, et al.
Annals of Neurology|October 12, 2000
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutationV Pingault, A Guiochon-Mantel, N Bondurand, et al.
Molecular Syndromology|March 5, 2011
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF GenesN M Haddad, D Ente, E Chouery, et al.
Human Molecular Genetics|August 15, 2000
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndromeN Bondurand, V Pingault, D E Goerich, et al.
Journal of Medical Genetics|May 19, 2001
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?V Pingault, N Bondurand, N Lemort, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 6, 1998
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung diseaseB Herbarth, V Pingault, N Bondurand, et al.
Journal of Neurology|August 14, 2001
The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disordersV Pingault, N Bondurand, C Le Caignec, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Human Molecular Genetics|December 6, 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 SOX10N Bondurand, M Girard, V Pingault, et al.
Genomics|January 1, 1997
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung diseaseV Pingault, A Puliti, M O Préhu, et al.
The Journal of Biological Chemistry|August 29, 1998
Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patientsK Kuhlbrodt, C Schmidt, E Sock, et al.
British Journal of Haematology|January 31, 1998
Interdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphismD Lasne, M Krenn, V Pingault, et al.
Annals of Neurology|October 12, 2000
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutationV Pingault, A Guiochon-Mantel, N Bondurand, et al.
Molecular Syndromology|March 5, 2011
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF GenesN M Haddad, D Ente, E Chouery, et al.
Human Molecular Genetics|August 15, 2000
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndromeN Bondurand, V Pingault, D E Goerich, et al.
Journal of Medical Genetics|May 19, 2001
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?V Pingault, N Bondurand, N Lemort, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 6, 1998
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung diseaseB Herbarth, V Pingault, N Bondurand, et al.
Journal of Neurology|August 14, 2001
The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disordersV Pingault, N Bondurand, C Le Caignec, et al.
Pageof 2