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Items: 1 to 20 of 598

1.

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
2.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M.

Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814.

PMID:
19363806
3.

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome.

Buysse K, Menten B, Oostra A, Tavernier S, Mortier GR, Speleman F.

Am J Med Genet A. 2008 May 15;146A(10):1330-4. doi: 10.1002/ajmg.a.32267.

PMID:
18412119
4.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM.

Am J Hum Genet. 2003 Jun;72(6):1578-84. Epub 2003 May 9.

5.

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA.

Clin Genet. 2007 Mar;71(3):260-6.

PMID:
17309649
6.

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

Eur J Hum Genet. 2007 Sep;15(9):943-9. Epub 2007 May 23.

7.

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al.

J Med Genet. 1993 Oct;30(10):828-32.

8.

Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization.

Dostal A, Nemeckova J, Gaillyova R, Vranova V, Zezulkova D, Lejska M, Slapak I, Dostalova Z, Kuglik P.

Otol Neurotol. 2006 Apr;27(3):427-32. Review.

PMID:
16639285
9.

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.

Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5.

PMID:
23566840
10.

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.

Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti GV.

Am J Med Genet A. 2008 Sep 1;146A(17):2234-41. doi: 10.1002/ajmg.a.32397.

PMID:
18666229
11.

The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3.

Dostal A, Nemeckova J, Gaillyova R.

J Craniomaxillofac Surg. 2009 Jul;37(5):272-5. doi: 10.1016/j.jcms.2008.12.002. Epub 2009 Jan 20.

PMID:
19157891
12.

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.

J Med Genet. 2008 Feb;45(2):71-80. Epub 2007 Sep 14.

PMID:
17873117
13.

Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).

Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.

Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):132-5. doi: 10.1002/bdra.20633.

PMID:
19813260
14.

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
15.

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.

Am J Med Genet. 2000 Sep 18;94(3):254-61.

PMID:
10995514
16.

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H.

Eur J Hum Genet. 2007 Jan;15(1):35-44. Epub 2006 Oct 4.

17.

Molecular characterization of patients with 18q23 deletions.

Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J.

Am J Hum Genet. 1997 Apr;60(4):860-8.

18.

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.

Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ.

Am J Med Genet A. 2003 Jul 1;120A(1):127-35.

PMID:
12794705
19.

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
20.

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP.

Am J Med Genet A. 2007 Nov 15;143A(22):2700-5.

PMID:
17937441

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