Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 212

1.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.

Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP, Havenga C, Gluckman E, Joenje H, de Ravel T, Jansen S, Mathew CG.

Proc Natl Acad Sci U S A. 2001 May 8;98(10):5734-9.

PMID:
11344308
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Bouchlaka C, Abdelhak S, Amouri A, Ben Abid H, Hadiji S, Frikha M, Ben Othman T, Amri F, Ayadi H, Hachicha M, Rebaï A, Saad A, Dellagi K; Tunisian Fanconi Anemia Study Group.

J Hum Genet. 2003;48(7):352-61. Epub 2003 Jun 24.

PMID:
12827451
[PubMed - indexed for MEDLINE]
3.

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J.

Blood. 2005 Mar 1;105(5):1946-9. Epub 2004 Nov 2. Erratum in: Blood. 2005 May 1;105(9):3404.

PMID:
15522956
[PubMed - indexed for MEDLINE]
Free Article
4.

A common Fanconi anemia mutation in black populations of sub-Saharan Africa.

Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG.

Blood. 2005 May 1;105(9):3542-4. Epub 2005 Jan 18.

PMID:
15657175
[PubMed - indexed for MEDLINE]
Free Article
5.

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD.

Hum Genet. 2002 Oct;111(4-5):331-8. Epub 2002 Sep 7.

PMID:
12384774
[PubMed - indexed for MEDLINE]
6.

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD.

Hum Mutat. 2005 Feb;25(2):142-9.

PMID:
15643609
[PubMed - indexed for MEDLINE]
7.

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.

Eur J Haematol. 2004 May;72(5):330-5.

PMID:
15059067
[PubMed - indexed for MEDLINE]
8.

Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.

Yagasaki H, Oda T, Adachi D, Nakajima T, Nakahata T, Asano S, Yamashita T.

Hum Mutat. 2003 May;21(5):555.

PMID:
12673805
[PubMed - indexed for MEDLINE]
9.

Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.

Defesche JC, Van Diermen DE, Hayden MR, Kastelein JP.

Gene Geogr. 1996 Apr;10(1):1-10.

PMID:
8913716
[PubMed - indexed for MEDLINE]
10.

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T.

Hum Mutat. 2004 Dec;24(6):481-90.

PMID:
15523645
[PubMed - indexed for MEDLINE]
11.

Fanconi anemia founder mutation in Macedonian patients.

Madjunkova S, Kocheva SA, Plaseska-Karanfilska D.

Acta Haematol. 2014;132(1):15-21. doi: 10.1159/000355191. Epub 2013 Dec 13.

PMID:
24356203
[PubMed - indexed for MEDLINE]
12.

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

Morgan NV, Tipping AJ, Joenje H, Mathew CG.

Am J Hum Genet. 1999 Nov;65(5):1330-41.

PMID:
10521298
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

Tachibana A, Kato T, Ejima Y, Yamada T, Shimizu T, Yang L, Tsunematsu Y, Sasaki MS.

Hum Mutat. 1999;13(3):237-44.

PMID:
10090479
[PubMed - indexed for MEDLINE]
14.

Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R.

Br J Haematol. 2000 Oct;111(1):338-43. Erratum in: Br J Haematol 2001 Mar;112(3):829.

PMID:
11091222
[PubMed - indexed for MEDLINE]
15.

Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki MS.

J Hum Genet. 2000;45(3):159-66.

PMID:
10807541
[PubMed - indexed for MEDLINE]
16.

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.

September AV, Vorster AA, Ramesar RS, Greenberg LJ.

Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1705-11.

PMID:
15161829
[PubMed - indexed for MEDLINE]
Free Article
17.

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

Reeves MD, Yawitch TM, van der Merwe NC, van den Berg HJ, Dreyer G, van Rensburg EJ.

Int J Cancer. 2004 Jul 10;110(5):677-82.

PMID:
15146556
[PubMed - indexed for MEDLINE]
18.

Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.

Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.

J Endocrinol. 2007 Oct;195(1):167-77.

PMID:
17911408
[PubMed - indexed for MEDLINE]
Free Article
19.

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.

Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, Temtamy S, Ortega JJ, Jansen S, et al.

Nat Genet. 1995 Nov;11(3):338-40.

PMID:
7581462
[PubMed - indexed for MEDLINE]
20.

The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

Futaki M, Yamashita T, Yagasaki H, Toda T, Yabe M, Kato S, Asano S, Nakahata T.

Blood. 2000 Feb 15;95(4):1493-8.

PMID:
10666230
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk