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Items: 1 to 20 of 40

1.

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Müller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R.

Cytogenet Genome Res. 2006;115(3-4):247-53.

PMID:
17124407
2.
3.

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.

Am J Med Genet A. 2006 May 1;140(9):1004-9.

PMID:
16575891
4.

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R.

Am J Med Genet A. 2006 Apr 15;140(8):873-7.

PMID:
16528753
5.

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.

Beales PL.

Curr Opin Genet Dev. 2005 Jun;15(3):315-23. Review.

PMID:
15917208
6.

Fine-scale structural variation of the human genome.

Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE.

Nat Genet. 2005 Jul;37(7):727-32. Epub 2005 May 15.

PMID:
15895083
7.

A case of autism and uniparental disomy of chromosome 1.

Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J, Sheffield VC.

Hum Genet. 2005 Jul;117(2-3):200-6. Epub 2005 May 11.

PMID:
15887000
8.

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H.

Nat Genet. 2005 May;37(5):468-70. Epub 2005 Apr 10.

PMID:
15821733
9.

CGHPRO -- a comprehensive data analysis tool for array CGH.

Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R.

BMC Bioinformatics. 2005 Apr 5;6:85.

10.

A set of BAC clones spanning the human genome.

Krzywinski M, Bosdet I, Smailus D, Chiu R, Mathewson C, Wye N, Barber S, Brown-John M, Chan S, Chand S, Cloutier A, Girn N, Lee D, Masson A, Mayo M, Olson T, Pandoh P, Prabhu AL, Schoenmakers E, Tsai M, Albertson D, Lam W, Choy CO, Osoegawa K, Zhao S, de Jong PJ, Schein J, Jones S, Marra MA.

Nucleic Acids Res. 2004 Jul 9;32(12):3651-60. Print 2004.

11.

FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia.

Raslova H, Komura E, Le Couédic JP, Larbret F, Debili N, Feunteun J, Danos O, Albagli O, Vainchenker W, Favier R.

J Clin Invest. 2004 Jul;114(1):77-84.

12.

A tiling resolution DNA microarray with complete coverage of the human genome.

Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL.

Nat Genet. 2004 Mar;36(3):299-303. Epub 2004 Feb 15.

PMID:
14981516
13.

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones.

Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP.

Genes Chromosomes Cancer. 2003 Apr;36(4):361-74. Erratum in: Genes Chromosomes Cancer. 2003 Jun;37(2):223.

PMID:
12619160
14.

Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA.

J Med Genet. 2002 Dec;39(12):876-81.

15.

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Ming JE, Muenke M.

Am J Hum Genet. 2002 Nov;71(5):1017-32. Epub 2002 Oct 22. Review. No abstract available.

16.

Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome.

Fleischman RA, Letestu R, Mi X, Stevens D, Winters J, Debili N, Vainchenker W.

Br J Haematol. 2002 Feb;116(2):367-75.

PMID:
11841440
17.

Cloning and expression analysis of chicken Lix1, a founding member of a novel gene family.

Swindell EC, Moeller C, Thaller C, Eichele G.

Mech Dev. 2001 Dec;109(2):405-8.

18.

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR.

Science. 2001 Sep 21;293(5538):2256-9.

19.

The Stat family in cytokine signaling.

Ihle JN.

Curr Opin Cell Biol. 2001 Apr;13(2):211-7. Review.

PMID:
11248555
20.

A bacterial artificial chromosome library for sequencing the complete human genome.

Osoegawa K, Mammoser AG, Wu C, Frengen E, Zeng C, Catanese JJ, de Jong PJ.

Genome Res. 2001 Mar;11(3):483-96.

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