Zobrazeno 1 - 10
of 74
pro vyhledávání: '"19q13.11 deletion syndrome"'
Akademický článek
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Akademický článek
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Autor:
Catherine Turleau, Helen V. Firth, Valérie Cormier-Daire, Michel Vekemans, Stanislas Lyonnet, Alain Bernheim, Arnold Munnich, Valérie Malan, Odile Raoul, Ghislaine Royer, Laurence Colleaux, Lionel Willatt
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (9), pp.635-640. ⟨10.1136/jmg.2008.062034⟩
Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (9), pp.635-640. ⟨10.1136/jmg.2008.062034⟩
Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan–Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a paucity of patients might be due to the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::563737d59e3b09e8e74c1e2ffa053509
https://hal.archives-ouvertes.fr/hal-02088045
https://hal.archives-ouvertes.fr/hal-02088045
Autor:
Takanobu Inoue1,2, Akie Nakamura1, Tomoko Fuke1, Kazuki Yamazawa1, Shinichiro Sano1, Keiko Matsubara1, Seiji Mizuno3, Yoshika Matsukura4, Chie Harashima4, Tatsuji Hasegawa5, Hisakazu Nakajima5, Kumi Tsumura66, Zenro Kizaki7, Akira Oka2, Tsutomu Ogata1,8, Maki Fukami1, Masayo Kagami1 kagami-ms@ncchd.go.jp
Publikováno v:
Clinical Epigenetics. 5/15/2017, Vol. 9, p1-10. 10p.
Autor:
Abe, Kikue Terada1 kikueabe@sarah.br, Rizzo, Isabela M. P. O.2, Coelho, Ana L. V.2, Sakai, Jr, Nilo1, Carvalho, Daniel R.2, Speck‐Martins, Carlos E.2
Publikováno v:
Clinical Case Reports. Jul2018, Vol. 6 Issue 7, p1300-1307. 8p.
Autor:
Carlos E. Speck-Martins, Ana Luiza Villa a Coelho, Nilo Sakai, Kikue Terada Abe, Daniel R. Carvalho, Isabela M. P. O. Rizzo
Publikováno v:
Clinical Case Reports
Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66af23a6e1f956d57c178842ab082b1f
http://europepmc.org/articles/PMC6028370
http://europepmc.org/articles/PMC6028370
Autor:
Vernon R. Sutton, Simone Gana, Weimin Bi, Pierangelo Veggiotti, Orsetta Zuffardi, Elena Rossi, G. Micieli, Katie Plunkett, Cristina Fedeli, Roberto Ciccone, Giusy Sciacca, Mohamad Maghnie, Anna Bersano
Publikováno v:
European Journal of Human Genetics
Developmental delay/intellectual disabilities, speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia, and genital malformations in males (hypospadias) represent the phenotypic core of the recent emergi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b21393ba2aeef07629937dddab49bb2
https://doi.org/10.1038/ejhg.2012.19
https://doi.org/10.1038/ejhg.2012.19
Autor:
Melo, Joana B.1,2,3 mmelo@fmed.uc.pt, Estevinho, Alexandra1,2, Saraiva, Jorge4,5, Ramos, Lina4, Carreira, Isabel M.1,2,3
Publikováno v:
Molecular Cytogenetics (17558166). 2015, Vol. 8 Issue 1, p1-7. 7p.
Autor:
Kazuki Yamazawa, Tomoko Fuke, Zenro Kizaki, Yoshika Matsukura, Hisakazu Nakajima, Keiko Matsubara, Takanobu Inoue, Tsutomu Ogata, Akira Oka, Maki Fukami, Chie Harashima, Seiji Mizuno, Akie Nakamura, Masayo Kagami, Kumi Tsumura, Shinichiro Sano, Tatsuji Hasegawa
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)
Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e9e025b2c5d9dce6c6568a54fc3b16
https://pubmed.ncbi.nlm.nih.gov/28515796
https://pubmed.ncbi.nlm.nih.gov/28515796
Autor:
Gana, Simone1, Veggiotti, Pierangelo2, Sciacca, Giusy1, Fedeli, Cristina2, Bersano, Anna2, Micieli, Giuseppe2, Maghnie, Mohamad3, Ciccone, Roberto4, Rossi, Elena1, Plunkett, Katie5, Bi, Weimin5, Sutton, Vernon R5, Zuffardi, Orsetta4
Publikováno v:
European Journal of Human Genetics. Aug2012, Vol. 20 Issue 8, p852-856. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.