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Items: 15

1.

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

Quinonez SC, Hedera P, Barr M, Ackley T, Lam C, Purkayastha A, Glover TW, Innis JW.

Am J Med Genet A. 2012 Oct;158A(10):2591-601. doi: 10.1002/ajmg.a.35563. Epub 2012 Aug 17.

2.

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH.

Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review.

3.

Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13.

Mehra S, Christ L, Jeng L, Zinn AB, Schwartz S.

Am J Med Genet A. 2005 Aug 30;137(2):217-21. Review.

PMID:
16059944
4.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
6.
7.

Deletion 2p15-16.1 syndrome: case report and review.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E.

Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Review.

PMID:
21910216
8.
9.

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

PMID:
16007629
10.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
11.

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.

Courtens W, Petersen MB, Noël JC, Flament-Durand J, Van Regemorter N, Delneste D, Cochaux P, Verschraegen-Spae MR, Van Roy N, Speleman F, et al.

Am J Med Genet. 1994 Jul 1;51(3):260-5. Review.

PMID:
8074156
12.

Further delineation of the chromosome 14q terminal deletion syndrome.

van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.

Am J Med Genet. 2002 Jun 1;110(1):65-72. Review.

PMID:
12116274
13.
14.

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.

Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Review.

PMID:
21964744
15.

Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.

Fujita H, Meng J, Kawamura M, Tozuka N, Ishii F, Tanaka N.

Am J Med Genet. 1992 Nov 1;44(4):434-6. Review.

PMID:
1442882

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