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Anu Bashamboo

Showing results (81-90 of 94) with videos related to

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Science Advances|January 4, 2023
In vitro cellular reprogramming to model gonad development and its disordersNitzan Gonen, Caroline Eozenou, Richard Mitter, et al.
Reproductive Biology and Endocrinology : RB&E|January 11, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis developmentKhouloud Rjiba, Soumaya Mougou-Zerelli, Imen Hadj Hamida, et al.
Plos One|May 3, 2013
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndromeNicolas Kalfa, Pascal Philibert, Ralf Werner, et al.
Molecular Human Reproduction|July 8, 2020
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermiaSylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, et al.
Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Human Molecular Genetics|December 30, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anne Jorgensen, Caroline Eozenou, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 5, 2020
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (<i>WT1</i>) geneCaroline Eozenou, Nitzan Gonen, Maria Sol Touzon, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Human Molecular Genetics|January 27, 2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, et al.
Pageof 10

Showing results (81-90 of 94) with videos related to

Sort By:
Pageof 10
Science Advances|January 4, 2023
In vitro cellular reprogramming to model gonad development and its disordersNitzan Gonen, Caroline Eozenou, Richard Mitter, et al.
Reproductive Biology and Endocrinology : RB&E|January 11, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis developmentKhouloud Rjiba, Soumaya Mougou-Zerelli, Imen Hadj Hamida, et al.
Plos One|May 3, 2013
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndromeNicolas Kalfa, Pascal Philibert, Ralf Werner, et al.
Molecular Human Reproduction|July 8, 2020
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermiaSylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, et al.
Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Human Molecular Genetics|December 30, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anne Jorgensen, Caroline Eozenou, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 5, 2020
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (<i>WT1</i>) geneCaroline Eozenou, Nitzan Gonen, Maria Sol Touzon, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Human Molecular Genetics|January 27, 2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, et al.
Pageof 10