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Results: 15

1.

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

Dobbs AK, Yang T, Farmer DM, Howard V, Conley ME.

Clin Genet. 2007 Feb;71(2):171-6.

PMID:
17250667
[PubMed - indexed for MEDLINE]
2.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

Curr Opin Hematol. 2008 Jan;15(1):30-6. Review.

PMID:
18043243
[PubMed - indexed for MEDLINE]
3.

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.

Ochs HD.

Immunol Res. 2009;44(1-3):84-8. doi: 10.1007/s12026-008-8084-3. Review.

PMID:
19082760
[PubMed - indexed for MEDLINE]
4.

Mosaicism in human skin. Understanding the patterns and mechanisms.

Happle R.

Arch Dermatol. 1993 Nov;129(11):1460-70. Review.

PMID:
8239703
[PubMed - indexed for MEDLINE]
5.

Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.

Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF.

Haemophilia. 2008 Sep;14(5):1094-8. doi: 10.1111/j.1365-2516.2008.01816.x. Epub 2008 Jul 25. Review.

PMID:
18665854
[PubMed - indexed for MEDLINE]
6.

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI.

J Am Soc Nephrol. 2005 Sep;16(9):2754-61. Epub 2005 Jul 27. Review.

PMID:
16049068
[PubMed - indexed for MEDLINE]
Free Article
7.

Mosaics and haemophilia.

Kasper CK, Buzin CH.

Haemophilia. 2009 Nov;15(6):1181-6. doi: 10.1111/j.1365-2516.2009.02003.x. Epub 2009 Mar 11. Review.

PMID:
19473426
[PubMed - indexed for MEDLINE]
8.

In vivo reversion to normal of inherited mutations in humans.

Hirschhorn R.

J Med Genet. 2003 Oct;40(10):721-8. Review.

PMID:
14569115
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].

Maruta K, Ohi T, Ohdo S, Takechi T, Sakuragawa N, Matsukura S.

Rinsho Shinkeigaku. 1996 Mar;36(3):462-6. Review. Japanese.

PMID:
8741350
[PubMed - indexed for MEDLINE]
10.

Why are mutations in COL4A5 not detectable in all patients with Alport's syndrome?

Flinter F, Plant K.

Nephrol Dial Transplant. 1998 Jun;13(6):1348-51. Review. No abstract available.

PMID:
9641156
[PubMed - indexed for MEDLINE]
Free Article
11.

Extracutaneous analogies of Blaschko lines.

Rott HD.

Am J Med Genet. 1999 Aug 6;85(4):338-41. Review.

PMID:
10398255
[PubMed - indexed for MEDLINE]
12.

Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency.

Stewart DM, Tian L, Notarangelo LD, Nelson DL.

Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):510-2. Review.

PMID:
16264330
[PubMed - indexed for MEDLINE]
13.

[Patterns on the skin. New aspects of their embryologic and genetic causes].

Happle R.

Hautarzt. 2004 Oct;55(10):960-1, 964-8. Review. German.

PMID:
15351866
[PubMed - indexed for MEDLINE]
14.

[Progress of study on sideroblastic anemia and its possible gene therapy--review].

Wang YQ, Zhu P.

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2005 Jun;13(3):524-8. Review. Chinese.

PMID:
15972158
[PubMed - indexed for MEDLINE]
15.

The last 80 years in primary immunodeficiency: how far have we come, how far need we go?

Shearer WT, Fischer A.

J Allergy Clin Immunol. 2006 Apr;117(4):748-52. Review. No abstract available.

PMID:
16630928
[PubMed - indexed for MEDLINE]

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