Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Inessa Grinberg"'
Autor:
Christine L. Laliberté, Inessa Grinberg, R. Mark Henkelman, Marissa C. Blank, Kathleen J. Millen, Emmanuel Aryee, Victor V. Chizhikov
Publikováno v:
Development. 138:1207-1216
Heterozygous deletions encompassing the ZIC1;ZIC4 locus have been identified in a subset of individuals with the common cerebellar birth defect Dandy-Walker malformation (DWM). Deletion of Zic1 and Zic4 in mice produces both cerebellar size and folia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::501bad35ede9a8f5a0463a05c2bffdf7
https://doi.org/10.1242/dev.054114
https://doi.org/10.1242/dev.054114
Autor:
Inessa Grinberg, John M. Graham, William B. Dobyns, Charles E. Niesen, Lawrence D. Platt, Marcel Maya, Andrew H. Spencer, Yasmin Namavar, Frank Baas
Publikováno v:
American journal of medical genetics. Part A, 152A(9), 2268-2276. Wiley-Liss Inc.
The pontocerebellar hypoplasias (PCH) are a group of early-onset, autosomal recessive disorders resulting in abnormal growth and function of the brainstem and cerebellum. PCH type 2 (PCH2) is characterized by respiratory and feeding difficulties at b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f2e75be9b95bd4676a01e0ea4e6acc
https://doi.org/10.1002/ajmg.a.33579
https://doi.org/10.1002/ajmg.a.33579
Autor:
Inessa Grinberg, Kathleen J. Millen
Publikováno v:
Clinical Genetics. 67:290-296
The human ZIC gene family is comprised of five members encoding zinc-finger transcription factors, which are the vertebrate homologs of the Drosophila odd-paired gene. Mutations in ZIC genes in humans have recently been implicated in a wide variety o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a124433c4d61216e45bb58ed915bf733
https://doi.org/10.1111/j.1399-0004.2005.00418.x
https://doi.org/10.1111/j.1399-0004.2005.00418.x
Autor:
James Dowling, Inessa Grinberg, David H. Ledbetter, Christa Lese Martin, June Chung, Melissa B. Ramocki, Kathleen J. Millen, William B. Dobyns, Virginia Kimonis, Carlos Cardoso, Alyssa Gross
Publikováno v:
European Journal of Human Genetics. 11:527-534
We have identified a female patient with a complex phenotype that includes complete agenesis of the corpus callosum, bilateral periventricular nodular heterotopia, and bilateral chorioretinal and iris colobomas. Karyotype analysis revealed an apparen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c3e9e5ac122b62ea65d167a59f8e86
https://doi.org/10.1038/sj.ejhg.5200995
https://doi.org/10.1038/sj.ejhg.5200995
Autor:
Holly H. Ardinger, Kathleen J. Millen, William B. Dobyns, Chitra Prasad, Inessa Grinberg, Hope Northrup
Publikováno v:
Nature genetics. 36(10)
Dandy-Walker malformation (DWM; OMIM #220200) is a common but poorly understood congenital cerebellar malformation in humans. Through physical mapping of 3q2 interstitial deletions in several individuals with DWM, we defined the first critical region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f04f80eeecd702679e3f668df31f5f8
https://pubmed.ncbi.nlm.nih.gov/15338008
https://pubmed.ncbi.nlm.nih.gov/15338008
Publikováno v:
Developmental Biology. (2):594-595
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77294480b4e82152c69d8a2b176e9506