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Results: 7

1.

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Johnston JJ, Wen KK, Keppler-Noreuil K, McKane M, Maiers JL, Greiner A, Sapp JC; NIH Intramural Sequencing Center, Demali KA, Rubenstein PA, Biesecker LG.

Hum Mutat. 2013 Sep;34(9):1242-9. doi: 10.1002/humu.22350. Epub 2013 May 28.

PMID:
23649928
[PubMed - indexed for MEDLINE]
2.

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB.

Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.

PMID:
22366783
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

Shiihara T, Maruyama K, Yamada Y, Nishimura A, Matsumoto N, Kato M, Sakazume S.

Brain Dev. 2010 Jun;32(6):502-5. doi: 10.1016/j.braindev.2009.04.015. Epub 2009 May 23.

PMID:
19477093
[PubMed - indexed for MEDLINE]
4.

The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

Ganesh A, Al-Kindi A, Jain R, Raeburn S.

J AAPOS. 2005 Dec;9(6):604-6.

PMID:
16414535
[PubMed - indexed for MEDLINE]
5.

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM.

Neuropediatrics. 2003 Dec;34(6):287-92. Review.

PMID:
14681753
[PubMed - indexed for MEDLINE]
6.

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.

Mégarbané A, Le Merrer M, el Kallab K.

Clin Dysmorphol. 1997 Jul;6(3):239-44.

PMID:
9220194
[PubMed - indexed for MEDLINE]
7.

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