Joenje H - Search Results

1

Should chromosome breakage studies be performed in patients with VACTERL association?

Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Faivre L, et al. Among authors: joenje h. Am J Med Genet A. 2005 Aug 15;137(1):55-8. doi: 10.1002/ajmg.a.30853. Am J Med Genet A. 2005. PMID: 16015582 Review.

2

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. Levitus M, et al. Among authors: joenje h. Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116423

3

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.

4

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.

5

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.

Alter BP, Joenje H, Oostra AB, Pals G. Alter BP, et al. Among authors: joenje h. Arch Otolaryngol Head Neck Surg. 2005 Jul;131(7):635-9. doi: 10.1001/archotol.131.7.635. Arch Otolaryngol Head Neck Surg. 2005. PMID: 16027289 No abstract available.

6

Identification of the Fanconi anemia complementation group I gene, FANCI.

Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H. Dorsman JC, et al. Among authors: joenje h. Cell Oncol. 2007;29(3):211-8. doi: 10.1155/2007/151968. Cell Oncol. 2007. PMID: 17452773 Free PMC article.

7

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.

8

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S, Dokal I, Mathew CG, Hoatlin M, Joenje H, de Winter JP, Wang W. Meetei AR, et al. Among authors: joenje h. Nat Genet. 2005 Sep;37(9):958-63. doi: 10.1038/ng1626. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116422 Free PMC article.

9

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Xia B, et al. Among authors: joenje h. Nat Genet. 2007 Feb;39(2):159-61. doi: 10.1038/ng1942. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200672

10

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.

Joenje H, Levitus M, Waisfisz Q, D'Andrea A, Garcia-Higuera I, Pearson T, van Berkel CG, Rooimans MA, Morgan N, Mathew CG, Arwert F. Joenje H, et al. Am J Hum Genet. 2000 Sep;67(3):759-62. doi: 10.1086/303067. Epub 2000 Aug 8. Am J Hum Genet. 2000. PMID: 10936108 Free PMC article.

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