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Results: 6

1.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W.

Hugo J. 2009 Dec;3(1-4):41-9. doi: 10.1007/s11568-010-9137-y. Epub 2010 Mar 25.

PMID:
21836662
[PubMed]
Free PMC Article
2.

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG.

Cell. 2010 Jul 23;142(2):203-17. doi: 10.1016/j.cell.2010.06.001. Epub 2010 Jul 15.

PMID:
20637498
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A.

Eur J Hum Genet. 2009 Jan;17(1):125-8. doi: 10.1038/ejhg.2008.159. Epub 2008 Sep 10.

PMID:
18781183
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ.

J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20.

PMID:
18500572
[PubMed - indexed for MEDLINE]
5.

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M.

Am J Med Genet A. 2008 Apr 1;146(7):813-9. doi: 10.1002/ajmg.a.32114.

PMID:
18271001
[PubMed - indexed for MEDLINE]
6.

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC.

Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19. Erratum in: Am J Hum Genet. 2006 Nov;79(5):985.

PMID:
16909395
[PubMed - indexed for MEDLINE]
Free PMC Article

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