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Results: 1 to 20 of 182

Related Citations for PubMed (Select 17256793)

1.

Duplication 18q21.31-q22.2.

Ceccarini C, Sinibaldi L, Bernardini L, De Simone R, Mingarelli R, Novelli A, Dallapiccola B.

Am J Med Genet A. 2007 Feb 15;143(4):343-8.

PMID:
17256793
2.

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J.

Am J Hum Genet. 1994 Sep;55(3):476-83.

3.

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna AL.

Am J Med Genet A. 2004 Jun 1;127A(2):186-90.

PMID:
15108208
4.
5.

Pure familial 6q21q22.1 duplication in two generations.

Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM.

Eur J Med Genet. 2007 Jan-Feb;50(1):60-5. Epub 2006 Sep 28.

PMID:
17071147
6.

Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.

Balci S, Yuksel Konuk B, Atik F, Oguz AK, Ergun MA, Baltaci V, Kosyakova N, Liehr T.

Genet Couns. 2010;21(3):317-24.

PMID:
20964123
7.

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Meins M, Böhm D, Grossmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P.

Am J Med Genet A. 2004 May 15;127A(1):58-64.

PMID:
15103719
8.

A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18.

Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang XL, Viera E, Mechoso B, Bellini S, Costabel M, Vaglio A.

Genet Test Mol Biomarkers. 2009 Jun;13(3):387-93. doi: 10.1089/gtmb.2008.0120.

PMID:
19473082
9.

Analysis of clinical variation seen in patients with 18q terminal deletions.

Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J.

Am J Med Genet. 1995 Dec 4;59(4):476-83.

PMID:
8585568
10.

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
11.

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H.

Am J Med Genet A. 2006 Feb 15;140(4):331-9.

PMID:
16419126
12.

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H.

J Med Genet. 1991 May;28(5):352-5. Review.

13.

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.

Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM.

Eur J Med Genet. 2006 Sep-Oct;49(5):384-95. Epub 2006 Feb 9. Review.

PMID:
16503209
14.

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F.

Eur J Med Genet. 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

PMID:
17531565
15.

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis SE.

Am J Med Genet Suppl. 1990;7:104-9.

PMID:
2149934
16.

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J.

Eur J Med Genet. 2006 Sep-Oct;49(5):402-13. Epub 2006 Jan 30. Review.

PMID:
16488200
17.

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J.

Am J Hum Genet. 1993 May;52(5):895-906. Review.

18.

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
19.

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
20.

Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children.

Pot ML, Giltay JC, van Wilsen A, Breslau-Siderius EJ.

Clin Genet. 1996 Nov;50(5):398-402.

PMID:
9007331
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