Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Melanie, Kunath"'
Autor:
Sybille Krauss, Joyce So, Melanie Hambrock, Andrea Köhler, Melanie Kunath, Constance Scharff, Martina Wessling, Karl-Heinz Grzeschik, Rainer Schneider, Susann Schweiger
Publikováno v:
PLoS ONE, Vol 4, Iss 10, p e7471 (2009)
BACKGROUND:Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrom
Externí odkaz:
https://doaj.org/article/589018ec2f4f4f788d3657ee6ec29972
Autor:
Beatriz Aranda-Orgillés, Johanna Aigner, Melanie Kunath, Rudi Lurz, Rainer Schneider, Susann Schweiger
Publikováno v:
PLoS ONE, Vol 3, Iss 10, p e3507 (2008)
Mutations in the MID1 protein have been found in patients with Opitz BBB/G syndrome (OS), which is characterised by multiple malformations of the ventral midline. MID1 is a microtubule-associated protein that stabilizes microtubules and, in associati
Externí odkaz:
https://doaj.org/article/ccf1c5820cfb480bb41c5c12f19fee86
Publikováno v:
American Journal of Medical Genetics Part A. :103-109
Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f9930c6434d72748288589efe1c003
https://doi.org/10.1002/ajmg.a.32055
https://doi.org/10.1002/ajmg.a.32055
Publikováno v:
Gene Expression Patterns. 2:119-122
The Trps1 gene codes for an atypical member of the GATA type family of transcription factors. Mutations in human TRPS1 lead to the tricho-rhino-phalangeal syndrome types I and III, which are characterized by craniofacial and skeletal abnormalities an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bebc2dd5e7cad874ef673ba8f959a25
https://doi.org/10.1016/s0925-4773(02)00300-3
https://doi.org/10.1016/s0925-4773(02)00300-3
Autor:
Beatriz, Aranda-Orgillés, Johanna, Aigner, Melanie, Kunath, Rudi, Lurz, Rainer, Schneider, Susann, Schweiger
Publikováno v:
PLoS One
PLoS ONE, Vol 3, Iss 10, p e3507 (2008)
PLoS ONE
PLoS ONE, Vol 3, Iss 10, p e3507 (2008)
PLoS ONE
Mutations in the MID1 protein have been found in patients with Opitz BBB/G syndrome (OS), which is characterised by multiple malformations of the ventral midline. MID1 is a microtubule-associated protein that stabilizes microtubules and, in associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::55e4988fee6b7ea6dd71bfd5ebdd9aa5
https://hdl.handle.net/11858/00-001M-0000-0010-7ECA-711858/00-001M-0000-0010-7ECB-5
https://hdl.handle.net/11858/00-001M-0000-0010-7ECA-711858/00-001M-0000-0010-7ECB-5
Publikováno v:
Mechanisms of development. 119
The Trps1 gene codes for an atypical member of the GATA type family of transcription factors. Mutations in human TRPS1 lead to the tricho-rhino-phalangeal syndrome types I and III, which are characterized by craniofacial and skeletal abnormalities an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b126a36124f1e7a318c50cb3f342a59
https://pubmed.ncbi.nlm.nih.gov/14516672
https://pubmed.ncbi.nlm.nih.gov/14516672