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Items: 1 to 20 of 95

1.

Adenosine deaminase-related growth factors stimulate cell proliferation in Drosophila by depleting extracellular adenosine.

Zurovec M, Dolezal T, Gazi M, Pavlova E, Bryant PJ.

Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4403-8. Epub 2002 Mar 19.

2.

Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality.

Roberts C, Sutherland HF, Farmer H, Kimber W, Halford S, Carey A, Brickman JM, Wynshaw-Boris A, Scambler PJ.

Mol Cell Biol. 2002 Apr;22(7):2318-28.

3.

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.

Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML.

J Med Genet. 2001 Dec;38(12):E45. No abstract available.

4.

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

Bailey JA, Yavor AM, Viggiano L, Misceo D, Horvath JE, Archidiacono N, Schwartz S, Rocchi M, Eichler EE.

Am J Hum Genet. 2002 Jan;70(1):83-100. Epub 2001 Nov 30.

5.

Long AT-rich palindromes and the constitutional t(11;22) breakpoint.

Kurahashi H, Emanuel BS.

Hum Mol Genet. 2001 Nov 1;10(23):2605-17.

PMID:
11726547
6.

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.

Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, Bauerndistel R, Schüler T, Schorle H, Brown MC, Adams J, Morrow BE.

Hum Mol Genet. 2001 Oct 15;10(22):2549-56.

PMID:
11709542
7.

Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.

Murphy KC, Owen MJ.

Br J Psychiatry. 2001 Nov;179:397-402. Review.

PMID:
11689394
8.

Segmental duplications: an 'expanding' role in genomic instability and disease.

Emanuel BS, Shaikh TH.

Nat Rev Genet. 2001 Oct;2(10):791-800. Review.

PMID:
11584295
9.

Engineering chromosomal rearrangements in mice.

Yu Y, Bradley A.

Nat Rev Genet. 2001 Oct;2(10):780-90. Review.

PMID:
11584294
10.

Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.

Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.

Genome Res. 2001 Jun;11(6):1053-70.

11.

Phenotypic variability of Cat-Eye syndrome.

Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.

Genet Couns. 2001;12(1):23-34. Review.

PMID:
11332976
12.

The invertebrate growth factor/CECR1 subfamily of adenosine deaminase proteins.

Charlab R, Valenzuela JG, Andersen J, Ribeiro JM.

Gene. 2001 Apr 4;267(1):13-22.

PMID:
11311551
13.

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.

Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A.

Nat Genet. 2001 Mar;27(3):293-8.

PMID:
11242111
14.

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.

Jerome LA, Papaioannou VE.

Nat Genet. 2001 Mar;27(3):286-91.

PMID:
11242110
15.

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.

Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A.

Nature. 2001 Mar 1;410(6824):97-101.

PMID:
11242049
16.

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R.

Cell. 2001 Feb 23;104(4):619-29.

17.

AT-rich palindromes mediate the constitutional t(11;22) translocation.

Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE.

Am J Hum Genet. 2001 Jan;68(1):1-13. Epub 2000 Nov 28.

18.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS.

Am J Hum Genet. 2000 Sep;67(3):763-8. Epub 2000 Jul 20.

20.

Velo-cardio-facial syndrome: a distinctive behavioral phenotype.

Shprintzen RJ.

Ment Retard Dev Disabil Res Rev. 2000;6(2):142-7. Review.

PMID:
10899808

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