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Francesca Pasutto

Showing results (21-30 of 56) with videos related to

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American Journal of Medical Genetics. Part A|November 24, 2020
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variantsEmmanuelle Souzeau, Owen M Siggs, Francesca Pasutto, et al.
Molecular Vision|June 1, 2006
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutationsGabriela Chavarria-Soley, Karin Michels-Rautenstrauss, Francesca Pasutto, et al.
Investigative Ophthalmology & Visual Science|February 3, 2009
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucomaMandy Krumbiegel, Francesca Pasutto, Christian Y Mardin, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaLorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, et al.
International Journal of Molecular Sciences|June 10, 2022
Dysregulated Retinoic Acid Signaling in the Pathogenesis of Pseudoexfoliation SyndromeMatthias Zenkel, Ursula Hoja, Andreas Gießl, et al.
Genes & Development|March 12, 2004
Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidaseRainer Paffenholz, Rebecca A Bergstrom, Francesca Pasutto, et al.
Molecular Vision|December 6, 2012
Absence of NR2E1 mutations in patients with aniridiaXimena Corso-Díaz, Adrienne E Borrie, Russell Bonaguro, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
Kidney International Reports|January 14, 2026
Alport Syndrome is a Partial Tubulointerstitial Disease of the KidneyLisa Loderbauer, Karl X Knaup, Daniel Reisenbüchler, et al.
Human Mutation|October 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panelKathryn P Burdon, Patricia Graham, Johanna Hadler, et al.
Pageof 6

Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|November 24, 2020
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variantsEmmanuelle Souzeau, Owen M Siggs, Francesca Pasutto, et al.
Molecular Vision|June 1, 2006
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutationsGabriela Chavarria-Soley, Karin Michels-Rautenstrauss, Francesca Pasutto, et al.
Investigative Ophthalmology & Visual Science|February 3, 2009
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucomaMandy Krumbiegel, Francesca Pasutto, Christian Y Mardin, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaLorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, et al.
International Journal of Molecular Sciences|June 10, 2022
Dysregulated Retinoic Acid Signaling in the Pathogenesis of Pseudoexfoliation SyndromeMatthias Zenkel, Ursula Hoja, Andreas Gießl, et al.
Genes & Development|March 12, 2004
Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidaseRainer Paffenholz, Rebecca A Bergstrom, Francesca Pasutto, et al.
Molecular Vision|December 6, 2012
Absence of NR2E1 mutations in patients with aniridiaXimena Corso-Díaz, Adrienne E Borrie, Russell Bonaguro, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
Kidney International Reports|January 14, 2026
Alport Syndrome is a Partial Tubulointerstitial Disease of the KidneyLisa Loderbauer, Karl X Knaup, Daniel Reisenbüchler, et al.
Human Mutation|October 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panelKathryn P Burdon, Patricia Graham, Johanna Hadler, et al.
Pageof 6