Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Rita Bertalan"'
Autor:
Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, Kenneth McElreavey
Publikováno v:
Endocrine Connections, Vol 10, Iss 6, Pp 620-629 (2021)
Objective: Disorders of sex development (DSD) are defined as congenital co nditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in
Externí odkaz:
https://doaj.org/article/8e62f22b0df84f8b8d68bd427b01a1df
Autor:
Ghadir Elias-Assad, Osnat Admoni, Shira London, Tal Almagor, Ken McElreavey, Marie Noufi-Barhoum, Rita Bertalan, Anu Bashamboo, Yoav Zehavi, Yardena Tenenbaum-Rakover, Hanna Ludar, Charles Sultan
Publikováno v:
Endocrine Connections, Vol 10, Iss 6, Pp 620-629 (2021)
Endocrine Connections
Endocrine Connections, 2021, 10 (6), pp.620-629. ⟨10.1530/EC-21-0019⟩
Endocrine Connections
Endocrine Connections, 2021, 10 (6), pp.620-629. ⟨10.1530/EC-21-0019⟩
Objective Disorders of sex development (DSD) are defined as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in o
Autor:
Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
International audience; Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD
Publikováno v:
Molecular Biology Reports. 46:4599-4604
NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of the ster
Autor:
Caroline, Eozenou, Nitzan, Gonen, Maria Sol, Touzon, Anne, Jorgensen, Svetlana A, Yatsenko, Leila, Fusee, Alaa K, Kamel, Balazs, Gellen, Gabriela, Guercio, Priti, Singh, Selma, Witchel, Andrea J, Berman, Rana, Mainpal, Mehdi, Totonchi, Anahita, Mohseni Meybodi, Masomeh, Askari, Tiphanie, Merel-Chali, Joelle, Bignon-Topalovic, Roberta, Migale, Mariana, Costanzo, Roxana, Marino, Pablo, Ramirez, Natalia, Perez Garrido, Esperanza, Berensztein, Mona K, Mekkawy, John C, Schimenti, Rita, Bertalan, Inas, Mazen, Ken, McElreavey, Alicia, Belgorosky, Robin, Lovell-Badge, Aleksandar, Rajkovic, Anu, Bashamboo
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Sex development involves a precise spatiotemporal expression and interactions of numerous genetic factors, including the WT1 (Wilms tumor 1) gene. Complete and partial loss-of-function WT1 variants are associated with 46,XY disorders/dif
Autor:
Rita Bertalan, Tal Almagor, Ghadir Elias Assad, Anu Bashamboo, Hana Ludar, Yardena Tenenbaum Rakover, Ken McElreavey, Shira London, Osnat Admoni, Marie Noufi Barhoum
Publikováno v:
Journal of the Endocrine Society
Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, gonadal and chromosomal sex. Despite extensive laboratory and imaging investigations, the etiology of DSD is unknown in more than 50
Autor:
Tiphanie Merel, Matthieu Peycelon, Serge Nef, Daisylyn Senna Tan, Evgenia Globa, Rita Bertalan, Inas Mazen, John C. Achermann, Andy Greenfield, Romain Le Ru, Jean-Pierre Siffroi, Anne Jorgensen, Ken McElreavey, Ágnes Sallai, Brigitte Mignot, Ralf Jauch, Laetitia Martinerie, Raissa G. G. Kay, Gerard S. Conway, Joelle Bignon-Topalovic, Juliane Léger, Nick Warr, Denis Houzelstein, Federica Buonocore, Anu Bashamboo, Raja Brauner, Caroline Eozenou, Lionel Van Maldergem, Yuliya Shcherbak, Jean-Claude Carel
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine (2019)
Genetics in Medicine, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine (2019)
Genetics in Medicine, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
International audience; PURPOSE:XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b8f7f93f0dd958aeec82a17aa535799
https://hal-pasteur.archives-ouvertes.fr/pasteur-02376177
https://hal-pasteur.archives-ouvertes.fr/pasteur-02376177
Autor:
Henriett Butz, Gy Fekete, Attila Tar, Ágota Muzsnai, Attila Patócs, Zsuzsanna Szanto, Gábor Nyírő, Andrea Luczay, Rita Bertalan, Ágnes Sallai, Éva Hosszú, Violetta Csákváry, Enikő Felszeghy, Zita Halász, Imre Zoltan Kun, Dóra Török, Anna David
Publikováno v:
Orvosi Hetilap. 158:1351-1356
Abstract: Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2–15% of patients with idiopathic
Autor:
Orsolya, Nagy, Judit, Kárteszi, Marianna, Hartwig, Rita, Bertalan, Eszter, Jávorszky, Éva, Erhardt, Attila, Patócs, Tamás, Tornóczky, István, Balogh, Anikó, Ujfalusi
Publikováno v:
Molecular biology reports. 46(5)
Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with highly variable clinical and genetic conditions. Although identification of the causative genetic alterations can offer a clearer prognosis and personalized manageme
Autor:
Marta Berra, Martine Cools, Antonio Balsamo, Olaf Hiort, Angela K Lucas-Herald, Rita Bertalan, Zofia Kolesinska
Publikováno v:
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Background The Differences of Sex Development network (DSDnet) aims to establish interactive relationships between clinicians, scientists, support groups and people with a difference of sex development (DSD) to improve the overall care for people aff