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Items: 1 to 20 of 29

1.

Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H.

Am J Hum Genet. 2000 Nov;67(5):1306-8. Epub 2000 Sep 19.

2.

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.

Am J Hum Genet. 2000 Sep;67(3):759-62. Epub 2000 Aug 8.

3.

Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial.

MacMillan ML, Auerbach AD, Davies SM, Defor TE, Gillio A, Giller R, Harris R, Cairo M, Dusenbery K, Hirsch B, Ramsay NK, Weisdorf DJ, Wagner JE.

Br J Haematol. 2000 Apr;109(1):121-9.

PMID:
10848791
4.

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.

de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, de Groot J, Zhi Y, Waisfisz Q, Pronk JC, Arwert F, Mathew CG, Scheper RJ, Hoatlin ME, Buchwald M, Joenje H.

Nat Genet. 2000 Jan;24(1):15-6. No abstract available.

PMID:
10615118
5.

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.

Nat Genet. 1999 Aug;22(4):379-83.

PMID:
10431244
6.

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.

Darling TN, Yee C, Bauer JW, Hintner H, Yancey KB.

J Clin Invest. 1999 May 15;103(10):1371-7.

7.

Retroactive DNA analysis for sex determination and dystrophin gene by polymerase chain reaction with archived cytogenetic slides.

Choi SK, Kim JW, Park SY, Kim YM, Kim JM, Ryu HM, Yang JS, Yoon SR.

Exp Mol Med. 1999 Mar 31;31(1):36-41.

8.

Improving the fixation method for preimplantation genetic diagnosis by fluorescent in situ hybridization.

Xu K, Huang T, Liu T, Shi Z, Rosenwaks Z.

J Assist Reprod Genet. 1998 Oct;15(9):570-4.

9.

The Fanconi anaemia group G gene FANCG is identical with XRCC9.

de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H.

Nat Genet. 1998 Nov;20(3):281-3.

PMID:
9806548
10.

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

Centra M, Memeo E, d'Apolito M, Savino M, Ianzano L, Notarangelo A, Liu J, Doggett NA, Zelante L, Savoia A.

Genomics. 1998 Aug 1;51(3):463-7.

PMID:
9721219
11.

Gene conversion tracts from double-strand break repair in mammalian cells.

Elliott B, Richardson C, Winderbaum J, Nickoloff JA, Jasin M.

Mol Cell Biol. 1998 Jan;18(1):93-101.

12.

Sequence variation in the Fanconi anemia gene FAA.

Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD.

Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13051-6.

13.

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

Fink JM, Dobyns WB, Guerrini R, Hirsch BA.

Am J Hum Genet. 1997 Aug;61(2):379-87.

14.

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.

Eur J Hum Genet. 1997 May-Jun;5(3):137-48.

PMID:
9272737
15.

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.

Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J.

Cell. 1997 Feb 21;88(4):543-51.

16.

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

Stephan V, Wahn V, Le Deist F, Dirksen U, Broker B, Müller-Fleckenstein I, Horneff G, Schroten H, Fischer A, de Saint Basile G.

N Engl J Med. 1996 Nov 21;335(21):1563-7. No abstract available.

17.

Positional cloning of the Fanconi anaemia group A gene.

Fanconi anaemia/Breast cancer consortium.

Nat Genet. 1996 Nov;14(3):324-8.

PMID:
8896564
18.

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H.

Nat Genet. 1996 Nov;14(3):320-3. Erratum in: Nat Genet. 1996 Dec;14(4):488.

PMID:
8896563
19.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.

Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE.

Nat Genet. 1996 Jul;13(3):290-5.

PMID:
8673127
20.

Fanconi anemia diagnosis and the diepoxybutane (DEB) test.

Auerbach AD.

Exp Hematol. 1993 Jun;21(6):731-3. No abstract available.

PMID:
8500573
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