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Francesca Pasutto

Showing results (31-40 of 56) with videos related to

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Human Molecular Genetics|December 14, 2011
Variants in ASB10 are associated with open-angle glaucomaFrancesca Pasutto, Kate E Keller, Nicole Weisschuh, et al.
BMC Genomics|February 16, 2023
Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndromeJibril B Hirbo, Francesca Pasutto, Eric R Gamazon, et al.
Hypertension (Dallas, Tex. : 1979)|July 15, 2024
Progressive Kidney Failure by Angiotensinogen Inactivation in the GermlineFlorian J Wopperer, Eric Olinger, Antje Wiesener, et al.
American Journal of Human Genetics|September 22, 2009
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaFrancesca Pasutto, Tomoya Matsumoto, Christian Y Mardin, et al.
Kidney International Reports|March 9, 2026
<i>MYH9</i> Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical <i>MYH9</i>-related DiseaseLena Pollinger, Johannes N Greve, Melanie Grosch, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
JAMA Ophthalmology|January 18, 2019
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital GlaucomaOwen M Siggs, Emmanuelle Souzeau, Francesca Pasutto, et al.
Nature Communications|May 24, 2017
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1Francesca Pasutto, Matthias Zenkel, Ursula Hoja, et al.
Arthritis and Rheumatism|February 13, 2013
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitisMaria Apel, Steffen Uebe, John Bowes, et al.
Neurogenetics|March 18, 2009
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsAlejandro Leal, Kathrin Huehne, Finn Bauer, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|December 14, 2011
Variants in ASB10 are associated with open-angle glaucomaFrancesca Pasutto, Kate E Keller, Nicole Weisschuh, et al.
BMC Genomics|February 16, 2023
Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndromeJibril B Hirbo, Francesca Pasutto, Eric R Gamazon, et al.
Hypertension (Dallas, Tex. : 1979)|July 15, 2024
Progressive Kidney Failure by Angiotensinogen Inactivation in the GermlineFlorian J Wopperer, Eric Olinger, Antje Wiesener, et al.
American Journal of Human Genetics|September 22, 2009
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaFrancesca Pasutto, Tomoya Matsumoto, Christian Y Mardin, et al.
Kidney International Reports|March 9, 2026
<i>MYH9</i> Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical <i>MYH9</i>-related DiseaseLena Pollinger, Johannes N Greve, Melanie Grosch, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
JAMA Ophthalmology|January 18, 2019
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital GlaucomaOwen M Siggs, Emmanuelle Souzeau, Francesca Pasutto, et al.
Nature Communications|May 24, 2017
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1Francesca Pasutto, Matthias Zenkel, Ursula Hoja, et al.
Arthritis and Rheumatism|February 13, 2013
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitisMaria Apel, Steffen Uebe, John Bowes, et al.
Neurogenetics|March 18, 2009
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsAlejandro Leal, Kathrin Huehne, Finn Bauer, et al.
Pageof 6