Zobrazeno 1 - 6
of 6
pro vyhledávání: '"MESH: Hypospadias"'
Autor:
Anu Bashamboo, Maryam Razzaghy-Azar, Mehdi Totonchi, Ken McElreavey, Mehrshad Seresht-Ahmadi, Mandana Rastari, Masomeh Askari
Publikováno v:
Andrologia
Andrologia, 2020, 52 (6), pp.e13585. ⟨10.1111/and.13585⟩
Andrologia, 2020, 52 (6), pp.e13585. ⟨10.1111/and.13585⟩
International audience; Testicular disorder of sex development (TDSD) is a rare condition, characterised by a female karyotype, male phenotype, small testes and cryptorchidism. Only a few studies have investigated the genetic causes of male sex rever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd02d1eb78fc3a1cb135581dbb19167
https://hal-pasteur.archives-ouvertes.fr/pasteur-03521830
https://hal-pasteur.archives-ouvertes.fr/pasteur-03521830
Autor:
Jean-Pierre Daurès, Jean Stephane Valla, Alice Faure, Nadege Fauconnet-Servant, Charles Sultan, Laura Gaspari, Rachel Reynaud, Pascal Philibert, Jean Michel Guys, Eric Dobremez, M Ollivier, Thierry Merrot, M. Haddad, Kathy Wagner, Amandine Coffy, Nicolas Kalfa, Sarah Garnier, Françoise Paris, Jean Breaud
Publikováno v:
Journal of Urology
Journal of Urology, Elsevier, 2018, 200 (4), pp.890-894. ⟨10.1016/j.juro.2018.04.072⟩
Journal of Urology, 2018, 200 (4), pp.890-894. ⟨10.1016/j.juro.2018.04.072⟩
Journal of Urology, Elsevier, 2018, 200 (4), pp.890-894. ⟨10.1016/j.juro.2018.04.072⟩
Journal of Urology, 2018, 200 (4), pp.890-894. ⟨10.1016/j.juro.2018.04.072⟩
International audience; PURPOSE:While familial forms of complex disorders/differences of sex development have been widely reported, data regarding isolated hypospadias are sparse and a family history is thought to be less frequent. We aimed to determ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2304d6b2790749cf2c253a9cd817ba3
https://hal.umontpellier.fr/hal-02290898
https://hal.umontpellier.fr/hal-02290898
Autor:
Maroufou Jules Alao, Muriel Holder-Espinasse, Corinne Magdelaine, Florence Petit, Aurélie Mezel, Didier Lacombe, Dominique Bonneau, Cyril Goizet, Sylvie Manouvrier-Hanu, D. Subtil
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2010, 53 (1), pp.19-22. ⟨10.1016/j.ejmg.2009.08.007⟩
European Journal of Medical Genetics, Elsevier, 2010, 53 (1), pp.19-22. ⟨10.1016/j.ejmg.2009.08.007⟩
International audience; Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. The key features in this syndrome are microphthalmia, enamel hypoplasia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5823de487a8afb833d778ba767332a7a
https://doi.org/10.1016/j.ejmg.2009.08.007
https://doi.org/10.1016/j.ejmg.2009.08.007
Autor:
Claire Petit, Antonia M. Calafat, Manori J. Silva, Marion Mortamais, Marie-Aline Charles, Florence Rouget, Sylvaine Cordier, Xiaoyun Ye, Rémy Slama, Claire Philippat, Cécile Chevrier
Publikováno v:
Epidemiology
Epidemiology, Lippincott, Williams & Wilkins, 2012, 23 (2), pp.353-6. ⟨10.1097/EDE.0b013e318246073e⟩
Epidemiology, 2012, 23 (2), pp.353-6. ⟨10.1097/EDE.0b013e318246073e⟩
Epidemiology, Lippincott, Williams & Wilkins, 2012, 23 (2), pp.353-6. ⟨10.1097/EDE.0b013e318246073e⟩
Epidemiology, 2012, 23 (2), pp.353-6. ⟨10.1097/EDE.0b013e318246073e⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::570448d9fb69a5aa90f705c46e6ac47e
https://hal.archives-ouvertes.fr/hal-00875980
https://hal.archives-ouvertes.fr/hal-00875980
Autor:
Takashi Baba, Yuka Wada, Jocelyn Laporte, Ken Ichirou Morohashi, Maki Fukami, Noriyuki Katsumata, Tsutomu Ogata, Fumiko Kato, Motoo Kitagawa, Michiyo Okada
Publikováno v:
Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2008, 283 (9), pp.5525-32. ⟨10.1074/jbc.M703289200⟩
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2008, 283 (9), pp.5525-32. ⟨10.1074/jbc.M703289200⟩
Although chromosome X open reading frame 6 (CXorf6) has been shown to be a causative gene for hypospadias, its molecular function remains unknown. To clarify this, we first examined CXorf6 protein structure, identifying homology to mastermind-like 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d85c2fafd39fa3a43d17647da1ea940
https://hal.archives-ouvertes.fr/hal-00283078
https://hal.archives-ouvertes.fr/hal-00283078
Autor:
Christine Kretz, Agneta Nordenskjöld, Tsutomu Ogata, Gen Yamada, Kanako Miyabayashi, Ken Ichirou Morohashi, Giovanna Camerino, Ichizo Nishino, Yuka Wada, Anna Buj-Bello, Jocelyn Laporte, Tomonobu Hasegawa, Maki Fukami
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2006, 38 (12), pp.1369-71. ⟨10.1038/ng1900⟩
Nature Genetics, Nature Publishing Group, 2006, 38 (12), pp.1369-71. ⟨10.1038/ng1900⟩
International audience; 46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bed3d2227090761f13533e06da2aacf
https://hal.archives-ouvertes.fr/hal-00187913
https://hal.archives-ouvertes.fr/hal-00187913