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Items: 1 to 20 of 79

1.

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies.

South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR.

J Med Genet. 2008 Jun;45(6):391-5. doi: 10.1136/jmg.2008.057315. Epub 2008 Apr 15.

PMID:
18413369
2.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

3.

Inherited 14q duplication and 21q deletion: a rare adjacent-2 segregation in multiple family members.

Dave BJ, Olney AH, Zaleski DH, Pickering DL, Becker TA, Chipman HE, Sanger WG.

Am J Med Genet A. 2009 Oct;149A(10):2248-53. doi: 10.1002/ajmg.a.32999.

PMID:
19760655
4.

A new genomic mechanism leading to cri-du-chat syndrome.

South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z.

Am J Med Genet A. 2006 Dec 15;140(24):2714-20.

PMID:
17103439
5.

The potential of family flow karyotyping for the detection of chromosome abnormalities.

Harris P, Cooke A, Boyd E, Young BD, Ferguson-Smith MA.

Hum Genet. 1987 Jun;76(2):129-33.

PMID:
3610143
6.
7.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. doi: 10.1136/jmg.2008.062034. Epub 2009 Jan 6.

PMID:
19126570
8.

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F.

J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15.

PMID:
18413373
9.

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, Morel Y, David A, Le Caignec C.

Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830.

PMID:
19449405
10.

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW.

Am J Med Genet A. 2008 Aug 1;146A(15):1986-93. doi: 10.1002/ajmg.a.32408.

PMID:
18627051
11.

The Xp contiguous deletion syndrome and autism.

Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F.

Am J Med Genet A. 2009 Jun;149A(6):1138-48. doi: 10.1002/ajmg.a.32833.

PMID:
19441126
12.

De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.

Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW.

BJOG. 2009 Jan;116(2):339-43. doi: 10.1111/j.1471-0528.2008.01948.x. Epub 2008 Nov 11.

13.

Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion.

Fang JS, Lee KF, Huang CT, Syu CL, Yang KJ, Wang LH, Liao DL, Chen CH.

Clin Genet. 2008 Jun;73(6):585-90. doi: 10.1111/j.1399-0004.2008.00995.x. Epub 2008 Apr 8.

PMID:
18400035
14.

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.

Kosaki R, Migita O, Takahashi T, Kosaki K.

Am J Med Genet A. 2009 Feb 15;149A(4):702-5. doi: 10.1002/ajmg.a.32666.

PMID:
19288551
15.

Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.

Filges I, Röthlisberger B, Noppen C, Boesch N, Wenzel F, Necker J, Binkert F, Huber AR, Heinimann K, Miny P.

Am J Med Genet A. 2009 Feb;149A(2):237-41. doi: 10.1002/ajmg.a.32622.

PMID:
19161139
16.

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F.

Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414.

PMID:
18629875
17.

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC.

Clin Chem. 2008 Jul;54(7):1141-8. doi: 10.1373/clinchem.2008.103721. Epub 2008 May 16.

18.

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities.

Morales C, Mademont-Soler I, Armengol L, Milà M, Badenas C, Andrés S, Soler A, Sánchez A.

Cytogenet Genome Res. 2009;125(4):334-40. doi: 10.1159/000235940. Epub 2009 Oct 27.

PMID:
19864897
19.

Array-based comparative genomic hybridization characterizes a deletion associated with a t(15;17) in acute promyelocytic leukemia.

Dolan M, Peterson B, Hirsch B.

Am J Clin Pathol. 2008 Nov;130(5):818-23. doi: 10.1309/AJCPENMUI47OGKRW.

20.

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR.

Am J Med Genet A. 2008 Aug 1;146A(15):1903-10. doi: 10.1002/ajmg.a.32450.

PMID:
18627067
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