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Items: 1 to 20 of 23

1.

Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

Berg JS, Potocki L, Bacino CA.

Am J Med Genet A. 2010 May;152A(5):1066-78. doi: 10.1002/ajmg.a.33185. Review.

PMID:
20425813
2.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
3.

Genomic and clinical characteristics of microduplications in chromosome 17.

Shchelochkov OA, Cheung SW, Lupski JR.

Am J Med Genet A. 2010 May;152A(5):1101-10. doi: 10.1002/ajmg.a.33248. Review.

PMID:
20425816
4.

Microdeletion and microduplication syndromes.

Malcolm S.

Prenat Diagn. 1996 Dec;16(13):1213-9. Review.

PMID:
9061752
5.

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
6.

[New chromosomal syndromes].

Schluth-Bolard C, Till M, Edery P, Sanlaville D.

Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Review. French.

PMID:
18467039
7.

[Another grey zone for clinical genetics: chromosomal microduplication 22q11.2].

Zhao YH, Li Ling J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Oct;24(5):551-5. Review. Chinese.

PMID:
17922425
8.

Microduplication 22q11.2: a new chromosomal syndrome.

Portnoï MF.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. doi: 10.1016/j.ejmg.2009.02.008. Epub 2009 Feb 28. Review.

PMID:
19254783
9.

Copy number and SNP arrays in clinical diagnostics.

Schaaf CP, Wiszniewska J, Beaudet AL.

Annu Rev Genomics Hum Genet. 2011;12:25-51. doi: 10.1146/annurev-genom-092010-110715. Review.

PMID:
21801020
10.
11.

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.

Vissers LE, de Vries BB, Veltman JA.

J Med Genet. 2010 May;47(5):289-97. doi: 10.1136/jmg.2009.072942. Epub 2009 Nov 30. Review.

PMID:
19951919
12.

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.

Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):335-45. Review.

PMID:
17910076
13.

The array CGH and its clinical applications.

Shinawi M, Cheung SW.

Drug Discov Today. 2008 Sep;13(17-18):760-70. doi: 10.1016/j.drudis.2008.06.007. Epub 2008 Jul 17. Review.

PMID:
18617013
14.

Diagnosis in dysmorphology: clues from the skin.

Smithson SF, Winter RM.

Br J Dermatol. 2004 Nov;151(5):953-60. Review.

PMID:
15541072
15.

Emerging themes and new challenges in defining the role of structural variation in human disease.

Sharp AJ.

Hum Mutat. 2009 Feb;30(2):135-44. doi: 10.1002/humu.20843. Review.

PMID:
18837009
16.

The LQT syndromes--current status of molecular mechanisms.

Schulze-Bahr E, Wedekind H, Haverkamp W, Borggrefe M, Assmann G, Breithardt G, Funke H.

Z Kardiol. 1999 Apr;88(4):245-54. Review.

PMID:
10408028
17.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
18.

Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics.

[No authors listed]

Pediatrics. 2000 Dec;106(6):1494-7. Review.

PMID:
11099612
20.

Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic imbalances.

Dave BJ, Sanger WG.

Semin Pediatr Neurol. 2007 Mar;14(1):2-6. Review.

PMID:
17331878

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