Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Daniela Brindusa Gorduza"'
Autor:
Florence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Patricia Bretones, Yves Morel
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Context: MIRAGE (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy) syndrome is a severe multisystem disorder with high mortality. It is caused by a heterozygous gain of function mutation in the gro
Externí odkaz:
https://doaj.org/article/c04cb56bc8ee4fcb86f66b2f37f4ca40
Autor:
Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay
Publikováno v:
Endocrine Connections, Vol 12, Iss 3, Pp 1-16 (2023)
Objectives: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. Methods: C
Externí odkaz:
https://doaj.org/article/077e01f7ec9b4ad58a9537aefd1f10ce
Publikováno v:
Pediatric Surgery ISBN: 9783662435663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::233a2d5869bebafd2e0bcc6da6508f1e
https://doi.org/10.1007/978-3-662-43567-0_191
https://doi.org/10.1007/978-3-662-43567-0_191
Autor:
Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay
Publikováno v:
Endocrine connections.
Objectives To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. Methods Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10d2e61a4c0150d35f90de38406a2e3
https://pubmed.ncbi.nlm.nih.gov/36606580
https://pubmed.ncbi.nlm.nih.gov/36606580
Publikováno v:
Pediatric Surgery ISBN: 9783642384820
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c76add7971e6c892b00e348fb3e4c2f9
https://doi.org/10.1007/978-3-642-38482-0_191-1
https://doi.org/10.1007/978-3-642-38482-0_191-1
Autor:
Cécile Faure Conter, Daniela Brindusa Gorduza, Pierre-Yves Mure, Jean-Pierre Pracros, Pierre Mouriquand, Claire Bouvattier, Jean-Pierre Siffroi, Ingrid Plotton, Claire-Lise Gay, Martine Cools, Frédérique Dijoud
Publikováno v:
Bulletin du Cancer. 106:461-467
Atypical genital development (AGD), also called disorders of sex development are a set of miscellaneous pathologies who have in common a morphological and/or functional abnormality of the internal and/or external genital organs. The Chicago classific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34e4ea3c047f6c591c2a2a76cc6cb748
https://doi.org/10.1016/j.bulcan.2019.01.018
https://doi.org/10.1016/j.bulcan.2019.01.018
Publikováno v:
Springer Surgery Atlas Series ISBN: 9783662562802
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e017a8ff0efa74c92b57a7fef93c1a56
https://doi.org/10.1007/978-3-662-56282-6_64
https://doi.org/10.1007/978-3-662-56282-6_64
The hypospadiac genital tubercle (GT) can be defined as a development arrest of the tissues forming its ventral aspect which occurs during the “masculinization window” (6–16 weeks of gestation). The causes of this common congenital malformation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4ec2d0661e3cb3be10e781527b84bb2
https://doi.org/10.1016/b978-0-12-801238-3.65354-0
https://doi.org/10.1016/b978-0-12-801238-3.65354-0
Autor:
Sylvie Manouvrier-Hanu, Sophie Catteau-Jonard, Jamal Ghoumid, Patrick Edery, Daniela Brindusa Gorduza, Wassila Ribero-Karrouz, Thomas Smol
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, European Journal of Medical Genetics, 63 (4), pp.103812. ⟨10.1016/j.ejmg.2019.103812⟩
European Journal of Medical Genetics, 2019, European Journal of Medical Genetics, 63 (4), pp.103812. ⟨10.1016/j.ejmg.2019.103812⟩
European Journal of Medical Genetics, Elsevier, 2019, European Journal of Medical Genetics, 63 (4), pp.103812. ⟨10.1016/j.ejmg.2019.103812⟩
European Journal of Medical Genetics, 2019, European Journal of Medical Genetics, 63 (4), pp.103812. ⟨10.1016/j.ejmg.2019.103812⟩
International audience; Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::593e7560b7ba0646734563f9a845cb1a
https://doi.org/10.1016/j.ejmg.2019.103812
https://doi.org/10.1016/j.ejmg.2019.103812
Autor:
Cécile, Faure Conter, Daniela, Brindusa Gorduza, Pierre-Yves, Mure, Jean-Pierre, Pracros, Pierre, Mouriquand, Claire, Bouvattier, Jean-Pierre, Siffroi, Ingrid, Plotton, Claire-Lise, Gay, Martine, Cools, Frédérique, Dijoud
Publikováno v:
Bulletin du cancer. 106(5)
Atypical genital development (AGD), also called disorders of sex development are a set of miscellaneous pathologies who have in common a morphological and/or functional abnormality of the internal and/or external genital organs. The Chicago classific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c5d5a03297bef5dc813f822f537cb78e
https://pubmed.ncbi.nlm.nih.gov/30910228
https://pubmed.ncbi.nlm.nih.gov/30910228