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Items: 1 to 20 of 93

1.

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.

Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X.

Am J Med Genet A. 2008 Nov 1;146A(21):2785-90. doi: 10.1002/ajmg.a.32437.

PMID:
18924166
2.

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
3.

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

Sanlaville D, Baumann C, Lapierre JM, Romana S, Collot N, Cacheux V, Turleau C, Tachdjian G.

Am J Med Genet. 1999 Mar 12;83(2):125-31. Review.

PMID:
10190483
4.

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
5.

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis.

Blennow E, Bui TH, Wallin A, Kogner P.

Am J Med Genet. 1996 Oct 2;65(1):60-7. Review.

PMID:
8914743
6.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
7.

Choanal atresia in a patient with the deletion (9p) syndrome.

Shashi V, Golden WL, Fryburg JS.

Am J Med Genet. 1994 Jan 1;49(1):88-90. Review.

PMID:
8172257
8.

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
9.

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.

Am J Med Genet A. 2005 Jun 15;135(3):308-13. Review.

PMID:
15887264
10.

Del 1p36 syndrome: a newly emerging clinical entity.

Battaglia A.

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

PMID:
16023552
11.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK.

J Med Genet. 1999 Sep;36(9):657-63. Review.

12.

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.

Heilstedt HA, Shapira SK, Gregg AR, Shaffer LG.

Clin Genet. 1999 Aug;56(2):123-8. Review.

PMID:
10517248
13.

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB.

Am J Med Genet. 2002 Mar 15;108(3):192-7. Review.

PMID:
11891684
14.

Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2.

Saal HM, King LJ, Zimmerman D, Johnson RC, Carr AG, Samango-Sprouse CA, Stanley W.

Am J Med Genet. 1996 Dec 30;66(4):373-7. Review.

PMID:
8989454
15.

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA.

Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563. Review.

PMID:
19006213
16.

The use of genomic microarrays to study chromosomal abnormalities in mental retardation.

Mao R, Pevsner J.

Ment Retard Dev Disabil Res Rev. 2005;11(4):279-85. Review.

PMID:
16240409
17.

De novo interstitial duplication 4(q28.1q35) associated with choanal atresia.

Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM.

J Paediatr Child Health. 2004 Jul;40(7):401-3. Review.

PMID:
15228573
18.

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.

Gläser B, Rossier E, Barbi G, Chiaie LD, Blank C, Vogel W, Kehrer-Sawatzki H.

Am J Med Genet A. 2003 Jan 1;116A(1):66-70. Review.

PMID:
12476454
19.

Monosomy 1p36 deletion syndrome.

Gajecka M, Mackay KL, Shaffer LG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. Review.

PMID:
17918734
20.

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