Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly-Reference-Cited by-同舟云学术

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Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Published:2005-08-17 Issue:6 Volume:117 Page:536-544
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Shoichet Sarah A.,Kunde Stella-Amrei,Viertel Petra,Schell-Apacik Can,von Voss Hubertus,Tommerup Niels,Ropers Hans-Hilger,Kalscheuer Vera M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-1310-3.pdf

Reference17 articles.

1. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH (1997) A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6:147–155

2. Endris V, Wogatzky B, Leimer U, Bartsch D, Zatyka M, Latif F, Maher ER, Tariverdian G, Kirsch S, Karch D, Rappold GA (2002) The novel Rho-GTPase activating gene MEGAP/srGAP3 has a putative role in severe mental retardation. Proc Natl Acad Sci USA 99:11754–11759

3. Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT (1996) LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86:59–69

4. Grammatico P, de Sanctis S, di Rosa C, Cupilari F, del Porto G (1994) First case of deletion 14q11.2q13: clinical phenotype. Ann Genet 37:30–32

5. Hanashima C, Shen L, Li SC, Lai E (2002) Brain factor-1 controls the proliferation and differentiation of neocortical progenitor cells through independent mechanisms. J Neurosci 22:6526–6536

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