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Nicolas Chassaing

Showing results (51-60 of 101) with videos related to

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Human Mutation|March 25, 2009
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmiaNicolas Chassaing, Christelle Golzio, Sylvie Odent, et al.
Scientific Data|May 7, 2026
A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variantsAude Rocatcher, Xavier Dieu, Valérie Desquiret-Dumas, et al.
American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.
JAMA Ophthalmology|July 5, 2014
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencingAlan F Scott, David W Mohr, Laura M Kasch, et al.
Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.
Transplantation|November 12, 2015
Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal TransplantationStanislas Faguer, Laure Esposito, Audrey Casemayou, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomaliesAndrée Delahaye, Pierre Bitoun, Séverine Drunat, et al.
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
Investigative Ophthalmology & Visual Science|August 20, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex MicrophthalmiaJulie Plaisancié, Clémentine Angée, Elisa Erjavec, et al.
Pageof 11

Showing results (51-60 of 101) with videos related to

Sort By:
Pageof 11
Human Mutation|March 25, 2009
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmiaNicolas Chassaing, Christelle Golzio, Sylvie Odent, et al.
Scientific Data|May 7, 2026
A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variantsAude Rocatcher, Xavier Dieu, Valérie Desquiret-Dumas, et al.
American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.
JAMA Ophthalmology|July 5, 2014
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencingAlan F Scott, David W Mohr, Laura M Kasch, et al.
Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.
Transplantation|November 12, 2015
Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal TransplantationStanislas Faguer, Laure Esposito, Audrey Casemayou, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomaliesAndrée Delahaye, Pierre Bitoun, Séverine Drunat, et al.
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
Investigative Ophthalmology & Visual Science|August 20, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex MicrophthalmiaJulie Plaisancié, Clémentine Angée, Elisa Erjavec, et al.
Pageof 11