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Items: 6

1.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ.

Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.

2.

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.

Clin Genet. 2013 Feb;83(2):135-44. doi: 10.1111/j.1399-0004.2012.01885.x. Epub 2012 May 1.

PMID:
22548404
3.

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH.

Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.

PMID:
16783569
4.

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.

Brzustowicz LM, Farrell S, Khan MB, Weksberg R.

Am J Hum Genet. 1999 Sep;65(3):779-83.

5.

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R.

Am J Med Genet. 1995 Nov 20;59(3):329-33.

PMID:
8599356
6.

Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.

K├Ânig R, Fuchs S, Kern C, Langenbeck U.

Am J Med Genet. 1991 Feb-Mar;38(2-3):244-7. Review.

PMID:
2018065

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