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Anu Bashamboo

Showing results (71-80 of 94) with videos related to

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European Journal of Medical Genetics|October 13, 2017
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritanceMajdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, et al.
Journal of Human Genetics|July 20, 2019
Identification of a missense variant in CLDN2 in obstructive azoospermiaMasomeh Askari, Razieh Karamzadeh, Naser Ansari-Pour, et al.
Frontiers in Genetics|September 16, 2022
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African CohortHousna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, et al.
American Journal of Human Genetics|October 5, 2010
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, et al.
European Journal of Endocrinology|March 5, 2014
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex developmentSally Tantawy, Inas Mazen, Hala Soliman, et al.
Journal of Dermatological Science|November 25, 2017
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosisMariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, et al.
Nature Communications|March 30, 2024
A conserved NR5A1-responsive enhancer regulates SRY in testis-determinationDenis Houzelstein, Caroline Eozenou, Carlos F Lagos, et al.
American Journal of Human Genetics|February 27, 2018
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX ChildrenAnu Bashamboo, Caroline Eozenou, Anne Jorgensen, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|July 22, 2021
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37Housna Zidoune, Laetitia Martinerie, Daisylyn S Tan, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2018
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signalingAbigail Harris, Pam Siggers, Silvia Corrochano, et al.
Pageof 10

Showing results (71-80 of 94) with videos related to

Sort By:
Pageof 10
European Journal of Medical Genetics|October 13, 2017
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritanceMajdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, et al.
Journal of Human Genetics|July 20, 2019
Identification of a missense variant in CLDN2 in obstructive azoospermiaMasomeh Askari, Razieh Karamzadeh, Naser Ansari-Pour, et al.
Frontiers in Genetics|September 16, 2022
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African CohortHousna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, et al.
American Journal of Human Genetics|October 5, 2010
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, et al.
European Journal of Endocrinology|March 5, 2014
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex developmentSally Tantawy, Inas Mazen, Hala Soliman, et al.
Journal of Dermatological Science|November 25, 2017
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosisMariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, et al.
Nature Communications|March 30, 2024
A conserved NR5A1-responsive enhancer regulates SRY in testis-determinationDenis Houzelstein, Caroline Eozenou, Carlos F Lagos, et al.
American Journal of Human Genetics|February 27, 2018
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX ChildrenAnu Bashamboo, Caroline Eozenou, Anne Jorgensen, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|July 22, 2021
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37Housna Zidoune, Laetitia Martinerie, Daisylyn S Tan, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2018
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signalingAbigail Harris, Pam Siggers, Silvia Corrochano, et al.
Pageof 10