Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Denise Rockstroh-Lippold"'
Autor:
Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
International audience; Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
Autor:
Jacob O. Kitzman, Frederic Castinetti, Andrew Dauber, Julia Hoppmann, Ana Keselman, I J P Arnhold, Luciani R. Carvalho, Alexandru Saveanu, Denise Rockstroh-Lippold, Rami Abou Jamra, Jun Li, Alexander A. L. Jorge, Anne Barlier, Qing Fang, Sebastián Alexis Vishnopolska, Cathy Smith, Debora Braslavsky, Ignacio Bergadá, A. Bilge Ozel, Hironori Bando, Thierry Brue, Sally A. Camper, Frédérique Albarel, Peter Gergics, Julian Martinez Mayer, Marilena Nakaguma, María Inés Pérez Millán, Qianyi Ma, Roland Pfaeffle, Marcelo A. Martí, Berenice B. Mendonca, Mariam Maksutova, Michael H. Guo
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::902e1f4c3904140e4d8b2e8f7b772631
https://doi.org/10.1101/2021.02.04.21249469
https://doi.org/10.1101/2021.02.04.21249469
Autor:
Marina Schlicke, Nazli Gonc, Wilma Oostdijk, Heike Pfäffle, Louise ten Have, Mithat Bahceci, Nurgun Kandemir, Roland Pfäffle, Denise Rockstroh-Lippold, Alpaslan Kemal Tuzcu, Jürgen Klammt, Petra Dusatkova, Georg Mansmann, Eleonore Bertko, Barbora Obermannova
Publikováno v:
Journal of Human Genetics
Journal of Human Genetics, 62(8), 755-762
Journal of Human Genetics, 62(8), 755-762
Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy numb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dc0d5c6e672657c5e4f962bd87507f1
https://hdl.handle.net/1887/95180
https://hdl.handle.net/1887/95180