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Results: 1 to 20 of 36

1.

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID.

Am J Med Genet A. 2004 Aug 1;128A(4):340-51.

PMID:
15264279
[PubMed - indexed for MEDLINE]
2.

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]
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.

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.

Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA.

Am J Med Genet A. 2010 Dec;152A(12):3148-53. doi: 10.1002/ajmg.a.33738. Review.

PMID:
21108400
[PubMed - indexed for MEDLINE]
5.

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]
6.

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF.

Am J Med Genet A. 2005 May 15;135(1):91-5. Review.

PMID:
15822126
[PubMed - indexed for MEDLINE]
7.

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Neas KR, Smith JM, Chia N, Huseyin S, St Heaps L, Peters G, Sholler G, Tzioumi D, Sillence DO, Mowat D.

Am J Med Genet A. 2005 Feb 1;132(4):425-30. Review.

PMID:
15633179
[PubMed - indexed for MEDLINE]
8.

The chromosome 9q subtelomere deletion syndrome.

Stewart DR, Kleefstra T.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. Review.

PMID:
17910072
[PubMed - indexed for MEDLINE]
9.

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.

Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.

Am J Med Genet A. 2005 Feb 1;132(4):402-10. Review.

PMID:
15742475
[PubMed - indexed for MEDLINE]
10.

Chromosome 5q subtelomeric deletion syndrome.

Rauch A, Dörr HG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. Review.

PMID:
17910075
[PubMed - indexed for MEDLINE]
11.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
[PubMed - indexed for MEDLINE]
12.

Subtelomeric deletion of 12p: Description of a third case and review.

Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML.

Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Review.

PMID:
20503336
[PubMed - indexed for MEDLINE]
13.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.

Am J Med Genet A. 2005 Apr 1;134A(1):12-23. Review.

PMID:
15732063
[PubMed - indexed for MEDLINE]
14.

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]
15.

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]
16.

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]
17.

Chromosome deletions in 13q33-34: report of four patients and review of the literature.

Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A.

Am J Med Genet A. 2008 Feb 1;146(3):337-42. doi: 10.1002/ajmg.a.32127. Review.

PMID:
18203171
[PubMed - indexed for MEDLINE]
18.

Del 1p36 syndrome: a newly emerging clinical entity.

Battaglia A.

Brain Dev. 2005 Aug;27(5):358-61. Review.

PMID:
16023552
[PubMed - indexed for MEDLINE]
19.

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]
20.

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.

Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA.

Am J Med Genet A. 2010 Oct;152A(10):2459-67. doi: 10.1002/ajmg.a.33573. Review.

PMID:
20830797
[PubMed - indexed for MEDLINE]

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