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Items: 1 to 20 of 141

1.

Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.

Luquet I, Favre B, Nadal N, Madinier N, Khau Van Kien P, Huet F, Nivelon-Chevallier A, Mugneret F.

Ann Genet. 1999;42(1):33-9.

PMID:
10214505
2.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
3.

Terminal 14q32.33 deletion: genotype-phenotype correlation.

Maurin ML, Brisset S, Le Lorc'h M, Poncet V, Trioche P, Aboura A, Labrune P, Tachdjian G.

Am J Med Genet A. 2006 Nov 1;140(21):2324-9. Review.

PMID:
17022077
4.

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F.

Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414.

PMID:
18629875
5.
6.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL.

Am J Med Genet A. 2003 Mar 15;117A(3):251-4.

PMID:
12599188
7.

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Zumkeller W, Volleth M, Muschke P, Tönnies H, Heller A, Liehr T, Wieacker P, Stumm M.

Am J Med Genet A. 2004 Sep 1;129A(3):261-4.

PMID:
15326625
8.

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
9.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310.

PMID:
18452192
10.

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.

11.

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr N, Eggermann T, Schüler HM.

Am J Med Genet A. 2008 Sep 15;146A(18):2417-20. doi: 10.1002/ajmg.a.32465.

PMID:
18698619
12.

Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.

Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS.

Am J Med Genet. 1999 Nov 5;87(1):17-22. Review.

PMID:
10528241
13.

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
14.

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Sanlaville D, Gosset P, Prieur M, Labenne M, Huet F, Mugneret F.

Am J Med Genet A. 2006 Sep 1;140A(17):1859-63.

PMID:
16892304
15.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
16.

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B.

Am J Med Genet A. 2003 Aug 1;120A(4):533-6.

PMID:
12884434
17.

A report of pure 7p duplication syndrome and review of the literature.

Papadopoulou E, Sifakis S, Sarri C, Gyftodimou J, Liehr T, Mrasek K, Kalmanti M, Petersen MB.

Am J Med Genet A. 2006 Dec 15;140(24):2802-6. Review.

PMID:
17103460
18.

Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.

Grammatico P, Roccella M, De Bernardo C, Roccella F, Grammatico B, Rinaldi R, Del Porto G.

Genet Couns. 1998;9(4):259-64.

PMID:
9894162
19.

A patient with 13q-syndrome with mild mental retardation and with growth retardation.

Stoll C, Alembik Y.

Ann Genet. 1998;41(4):209-12. Review.

PMID:
9881184
20.

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M.

Am J Med Genet. 1988 Apr;29(4):739-53. Erratum in: Am J Med Genet 1988 Nov;31(3):723-5.

PMID:
3400720

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