Joenje H - Search Results

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. Tipping AJ, et al. Among authors: joenje h. Proc Natl Acad Sci U S A. 2001 May 8;98(10):5734-9. doi: 10.1073/pnas.091402398. Proc Natl Acad Sci U S A. 2001. PMID: 11344308 Free PMC article.

2

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. Morgan NV, et al. Among authors: joenje h. Blood. 2005 May 1;105(9):3542-4. doi: 10.1182/blood-2004-10-3968. Epub 2005 Jan 18. Blood. 2005. PMID: 15657175 Free article.

3

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

Morgan NV, Tipping AJ, Joenje H, Mathew CG. Morgan NV, et al. Among authors: joenje h. Am J Hum Genet. 1999 Nov;65(5):1330-41. doi: 10.1086/302627. Am J Hum Genet. 1999. PMID: 10521298 Free PMC article.

4

Fanconi anaemia research: current status and prospects.

Joenje H, Mathew C, Gluckman E. Joenje H, et al. Eur J Cancer. 1995;31A(2):268-72. doi: 10.1016/0959-8049(94)00485-n. Eur J Cancer. 1995. PMID: 7718336 Review.

5

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.

Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Lo Ten Foe JR, et al. Among authors: joenje h. Eur J Hum Genet. 1997 May-Jun;5(3):137-48. Eur J Hum Genet. 1997. PMID: 9272737

6

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M. Demuth I, et al. Among authors: joenje h. Eur J Hum Genet. 2000 Nov;8(11):861-8. doi: 10.1038/sj.ejhg.5200552. Eur J Hum Genet. 2000. PMID: 11093276

7

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG. Faivre L, et al. Among authors: joenje h. Blood. 2000 Dec 15;96(13):4064-70. Blood. 2000. PMID: 11110674 Free article.

8

Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.

Lo Ten Foe JR, Kruyt FA, Zweekhorst MB, Pals G, Gibson RA, Mathew CG, Joenje H, Arwert F. Lo Ten Foe JR, et al. Among authors: joenje h. Hum Mutat. 1998;Suppl 1:S25-7. doi: 10.1002/humu.1380110109. Hum Mutat. 1998. PMID: 9452030 No abstract available.

9

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.

Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M. Waisfisz Q, et al. Among authors: joenje h. Am J Hum Genet. 1999 May;64(5):1400-5. doi: 10.1086/302385. Am J Hum Genet. 1999. PMID: 10205272 Free PMC article.

10

Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.

Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CG, Hoatlin ME, Ianzano L, Gibson RA, Arwert F, Savoia A, Mathew CG, Pronk JC, Joenje H. Waisfisz Q, et al. Among authors: joenje h. Nat Genet. 1999 Aug;22(4):379-83. doi: 10.1038/11956. Nat Genet. 1999. PMID: 10431244

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