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Items: 1 to 20 of 760

1.

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
2.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
3.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.

Eur J Hum Genet. 2007 May;15(5):548-55. Epub 2007 Mar 7.

4.

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J.

Am J Med Genet A. 2005 Nov 15;139(1):32-6.

PMID:
16222686
5.

[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
6.

Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features.

Chen CP, Lin SP, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen LF, Lee MS, Wang W.

Genet Couns. 2010;21(2):263-7. No abstract available.

PMID:
20681230
7.

Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.

Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Li J, Chinault AC, Smyk M, Borg K, Mazurczak T, Cheung SW, Bocian E.

Am J Med Genet A. 2008 Sep 15;146A(18):2361-9. doi: 10.1002/ajmg.a.32475.

PMID:
18698622
8.

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG.

Am J Med Genet A. 2005 Apr 30;134(3):259-67.

PMID:
15723295
9.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
10.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
11.

Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).

Shimojima K, Páez MT, Kurosawa K, Yamamoto T.

Brain Dev. 2009 Sep;31(8):629-33. doi: 10.1016/j.braindev.2008.08.013. Epub 2008 Oct 5.

PMID:
18835671
12.

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
13.

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

Schoumans J, Staaf J, Jönsson G, Rantala J, Zimmer KS, Borg A, Nordenskjöld M, Anderlid BM.

Eur J Med Genet. 2005 Jul-Sep;48(3):290-300.

PMID:
16179224
14.

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL.

Clin Chem. 2007 Dec;53(12):2051-9. Epub 2007 Sep 27.

15.

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
16.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

Kiholm Lund AB, Hove HD, Kirchhoff M.

Eur J Med Genet. 2008 Nov-Dec;51(6):520-6. doi: 10.1016/j.ejmg.2008.07.008. Epub 2008 Aug 7.

PMID:
18755302
17.

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2007 Aug 15;143A(16):1858-67.

PMID:
17632778
18.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
19.

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F.

Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447.

PMID:
18629884
20.

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.

J Appl Genet. 2017 Feb;58(1):93-98. doi: 10.1007/s13353-016-0366-1. Epub 2016 Sep 14.

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