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Results: 1 to 20 of 186

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
[PubMed - indexed for MEDLINE]
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.

PMID:
8079991
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
4.

A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.

Peeters H, Vermeesch J, Fryns JP.

Genet Couns. 2008;19(4):365-71.

PMID:
19239079
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
9.

[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].

Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T.

Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-25. Polish.

PMID:
17028390
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
1865477
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
8488839
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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