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Items: 1 to 20 of 28

1.

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM.

Pediatrics. 2003 Jul;112(1 Pt 1):101-7.

PMID:
12837874
2.

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.

Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ.

Am J Med Genet A. 2003 Jun 1;119A(2):111-20.

PMID:
12749048
3.

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, M├╝hlendyck H, Bartels I, Zoll B.

J Med Genet. 2003 May;40(5):e62. Review. No abstract available.

4.

Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.

Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K, Ando M, Joh-o K, Kuroe K, Ohtake A, Takao A, Momma K, Matsuoka R.

Genet Med. 2003 Mar-Apr;5(2):113-9.

PMID:
12644781
5.

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9.

Krepischi-Santos AC, Vianna-Morgante AM.

Am J Med Genet A. 2003 Feb 15;117A(1):41-6.

PMID:
12548739
6.

Molecular-evolutionary mechanisms for genomic disorders.

Stankiewicz P, Lupski JR.

Curr Opin Genet Dev. 2002 Jun;12(3):312-9. Review.

PMID:
12076675
7.

Genomic disorders on 22q11.

McDermid HE, Morrow BE.

Am J Hum Genet. 2002 May;70(5):1077-88. Epub 2002 Mar 29. Review.

8.

Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR.

Trends Genet. 2002 Feb;18(2):74-82. Review.

PMID:
11818139
9.

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB.

Genet Couns. 2001;12(3):273-82. Review.

PMID:
11693792
11.

Molecular mechanisms for constitutional chromosomal rearrangements in humans.

Shaffer LG, Lupski JR.

Annu Rev Genet. 2000;34:297-329. Review.

PMID:
11092830
12.

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS.

Hum Mol Genet. 2000 Mar 1;9(4):489-501.

PMID:
10699172
13.

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR.

Nat Genet. 2000 Jan;24(1):84-7.

PMID:
10615134
14.

A common molecular basis for rearrangement disorders on chromosome 22q11.

Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE.

Hum Mol Genet. 1999 Jul;8(7):1157-67.

PMID:
10369860
15.

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Edelmann L, Pandita RK, Morrow BE.

Am J Hum Genet. 1999 Apr;64(4):1076-86.

16.

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.

McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE.

Cytogenet Cell Genet. 1998;81(3-4):222-8.

PMID:
9730608
17.

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE.

Am J Hum Genet. 1997 Sep;61(3):620-9.

18.

The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.

Collins JE, Mungall AJ, Badcock KL, Fay JM, Dunham I.

Genome Res. 1997 May;7(5):522-31. Erratum in: Genome Res 1997 Sep;7(9):942.

19.

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

Worthington S, Colley A, Fagan K, Dai K, Lipson AH.

J Med Genet. 1997 Jan;34(1):79-82.

20.

De novo direct duplication of chromosome segment 22q11.2-q13.1.

Fujimoto A, Lin MS.

Am J Med Genet. 1996 Mar 29;62(3):300-1. No abstract available.

PMID:
8882792

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