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Results: 1 to 20 of 29

1.

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L.

Am J Med Genet A. 2003 Oct 15;122A(3):261-5.

PMID:
12966529
[PubMed - indexed for MEDLINE]
2.

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O.

Am J Med Genet A. 2003 Mar 15;117A(3):236-44. Review.

PMID:
12599186
[PubMed - indexed for MEDLINE]
3.

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A.

Am J Med Genet A. 2005 Jan 15;132A(2):175-80. Review.

PMID:
15578619
[PubMed - indexed for MEDLINE]
4.

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]
5.

Joubert syndrome co-existing with partial Xp trisomy: review of the literature.

Güven GS, Fenerci EY, Deviren A, Ozkiliç A, Yüksel A, Hacihanefioğlu S.

Genet Couns. 2004;15(3):321-8. Review.

PMID:
15517825
[PubMed - indexed for MEDLINE]
6.

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.

Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Adès L, Darmanian A, Callen D.

Am J Med Genet A. 2003 Feb 15;117A(1):57-64. Review.

PMID:
12548741
[PubMed - indexed for MEDLINE]
7.

Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.

Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW.

Am J Med Genet A. 2004 Feb 15;125A(1):67-72. Review.

PMID:
14755469
[PubMed - indexed for MEDLINE]
8.

Chromosome 2q37 deletion: clinical and molecular aspects.

Falk RE, Casas KA.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):357-71. Review.

PMID:
17910077
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.

Clin Dysmorphol. 2007 Oct;16(4):231-9. Review.

PMID:
17786114
[PubMed - indexed for MEDLINE]
11.

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT.

Am J Med Genet A. 2005 Jul 1;136(1):38-44. Review.

PMID:
15937949
[PubMed - indexed for MEDLINE]
12.

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Riegel M, Schinzel A.

Am J Med Genet. 2002 Jul 22;111(1):76-80. Review. Erratum in: Am J Med Genet. 2002 Dec 1;113(3):313..

PMID:
12124740
[PubMed - indexed for MEDLINE]
13.

Unbalanced translocation (3;5)(q26.1;p14): a clinical report.

Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, Andria G.

Am J Med Genet. 2002 Jul 15;110(4):353-8. Review.

PMID:
12116209
[PubMed - indexed for MEDLINE]
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.

Subtelomeric rearrangements as neutral genomic polymorphisms.

Hengstschläger M, Prusa A, Repa C, Deutinger J, Pollak A, Bernaschek G.

Am J Med Genet A. 2005 Feb 15;133A(1):48-52. Review.

PMID:
15637704
[PubMed - indexed for MEDLINE]
16.

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.

BMC Med Genet. 2004 Jun 25;5:17. Review.

PMID:
15219231
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13.

Mehra S, Christ L, Jeng L, Zinn AB, Schwartz S.

Am J Med Genet A. 2005 Aug 30;137(2):217-21. Review.

PMID:
16059944
[PubMed - indexed for MEDLINE]
18.

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M.

Am J Med Genet A. 2005 Oct 1;138A(2):160-5. Review.

PMID:
16114049
[PubMed - indexed for MEDLINE]
19.

Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.

Shanske AL, Edelmann L, Kardon NB, Gosset P, Levy B.

Am J Med Genet A. 2004 Nov 15;131(1):29-35. Review.

PMID:
15368480
[PubMed - indexed for MEDLINE]
20.

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Apr 30;126A(3):278-83. Review.

PMID:
15054842
[PubMed - indexed for MEDLINE]

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