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Items: 1 to 20 of 129

1.

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.

Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA.

Am J Med Genet A. 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227.

PMID:
20101693
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.

Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region.

Rizzu P, Haddad BR, Vallcorba I, Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A.

Am J Med Genet. 1997 Feb 11;68(4):428-32.

PMID:
9021016
4.
5.

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
6.

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.

Am J Med Genet A. 2005 Jun 15;135(3):308-13. Review.

PMID:
15887264
7.

A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.

Tsai LP, Liao HM, Chen YJ, Fang JS, Chen CH.

Clin Genet. 2009 May;75(5):449-56. doi: 10.1111/j.1399-0004.2008.01147.x.

PMID:
19459884
8.

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.

Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X.

Am J Med Genet A. 2008 Nov 1;146A(21):2785-90. doi: 10.1002/ajmg.a.32437.

PMID:
18924166
9.

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT.

Clin Dysmorphol. 2009 Jan;18(1):9-12.

PMID:
19090026
10.

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE.

Clin Genet. 1995 Feb;47(2):90-5. Review.

PMID:
7606850
11.

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
12.

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.

Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.

PMID:
19576304
13.

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

Ruiter M, Koolen DA, Pfundt R, de Leeuw N, Klinkers HM, Sistermans EA, Veltman JA, de Vries BB.

Clin Dysmorphol. 2006 Jul;15(3):133-7.

PMID:
16760730
14.

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

Zahir FR, Langlois S, Gall K, Eydoux P, Marra MA, Friedman JM.

Am J Med Genet A. 2009 Jun;149A(6):1257-62. doi: 10.1002/ajmg.a.32827.

PMID:
19449402
15.

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.

Clin Genet. 2007 Jul;72(1):47-58.

PMID:
17594399
16.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.

Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2.

PMID:
20132918
17.
18.

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M.

Am J Med Genet A. 2006 Feb 1;140(3):212-21.

PMID:
16411218
19.

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
20.

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P.

J Hum Genet. 2006;51(9):815-21. Epub 2006 Aug 10.

PMID:
16900295

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