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Results: 1 to 20 of 9436

1.

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Borgaonkar DS.

Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

2.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766.

PMID:
21204233
[PubMed - indexed for MEDLINE]
3.

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

Williams PG, Wetherbee JJ, Rosenfeld JA, Hersh JH.

Am J Med Genet A. 2011 Jan;155A(1):186-91. doi: 10.1002/ajmg.a.33763.

PMID:
21204230
[PubMed - indexed for MEDLINE]
4.

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK.

Am J Med Genet A. 2011 Jan;155A(1):154-63. doi: 10.1002/ajmg.a.33751. Epub 2010 Dec 10.

PMID:
21204225
[PubMed - indexed for MEDLINE]
5.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P.

Am J Hum Genet. 2010 Dec 10;87(6):857-65. doi: 10.1016/j.ajhg.2010.10.019. Epub 2010 Nov 25.

PMID:
21109226
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA.

Shanske AL, Leonard J, Nahum O, Coppock DL, Levy B.

Am J Med Genet A. 2010 Dec;152A(12):3185-8. doi: 10.1002/ajmg.a.33431. No abstract available.

PMID:
21108406
[PubMed - indexed for MEDLINE]
7.

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG.

Am J Med Genet A. 2010 Dec;152A(12):3074-83. doi: 10.1002/ajmg.a.33733.

PMID:
21108392
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.

Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki KJ, Yamada Y, Mizuno S, Wakamatsu N.

Am J Med Genet A. 2010 Dec;152A(12):3057-67. doi: 10.1002/ajmg.a.33174.

PMID:
21086493
[PubMed - indexed for MEDLINE]
9.

Microarray analysis of an unbalanced t(4;13) translocation narrows down the trisomy 13 associated polydactyly to a 7 Mb region.

Meekins J, Butler M, Skinner M, Shippy R, Greene C, Ning Y.

Am J Med Genet A. 2010 Nov;152A(11):2906-7. doi: 10.1002/ajmg.a.33691. No abstract available.

PMID:
20979195
[PubMed - indexed for MEDLINE]
10.

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.

Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI.

Am J Med Genet A. 2010 Nov;152A(11):2865-9. doi: 10.1002/ajmg.a.33689.

PMID:
20979193
[PubMed - indexed for MEDLINE]
11.

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

Balasubramanian M, Peres LC, Pelly D.

Clin Dysmorphol. 2011 Jan;20(1):47-9. doi: 10.1097/MCD.0b013e32833ff2e9.

PMID:
20966746
[PubMed - indexed for MEDLINE]
12.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.

Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699.

PMID:
20954245
[PubMed - indexed for MEDLINE]
13.

Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations.

Belar O, Del Pozo JS, Moreno-García M, Cruz-Rojo J, Garin I, de Nanclares GP.

Am J Med Genet A. 2010 Nov;152A(11):2901-5. doi: 10.1002/ajmg.a.33679. No abstract available.

PMID:
20949536
[PubMed - indexed for MEDLINE]
14.

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.

Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, Hafo F, Cine N, Savli H.

Am J Med Genet A. 2010 Nov;152A(11):2791-5. doi: 10.1002/ajmg.a.33249.

PMID:
20949503
[PubMed - indexed for MEDLINE]
15.

Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.

Molina O, Anton E, Vidal F, Blanco J.

Hum Genet. 2011 Jan;129(1):35-44. doi: 10.1007/s00439-010-0894-4. Epub 2010 Oct 8.

PMID:
20931230
[PubMed - indexed for MEDLINE]
16.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.

Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA.

J Med Genet. 2010 Nov;47(11):777-81. doi: 10.1136/jmg.2009.075903. Epub 2010 Oct 4.

PMID:
20921022
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy.

Lenzini E, Drigo P, Redaelli S, Mammi I, Rosa-Rizzotto M, Dalprà L.

Genet Test Mol Biomarkers. 2010 Oct;14(5):695-701. doi: 10.1089/gtmb.2010.0079. Epub 2010 Sep 20.

PMID:
20854099
[PubMed - indexed for MEDLINE]
18.

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation.

Kulikowski LD, Yoshimoto M, da Silva Bellucco FT, Belangero SI, Christofolini DM, Pacanaro AN, Bortolai A, Smith Mde A, Squire JA, Melaragno MI.

Eur J Med Genet. 2010 Nov-Dec;53(6):404-7. doi: 10.1016/j.ejmg.2010.08.007. Epub 2010 Sep 15.

PMID:
20837174
[PubMed - indexed for MEDLINE]
19.

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.

Santos M, Mrasek K, Madrigal I, Martorell MR, González-Meneses A, Rodríguez-Criado G, Milà M, Liehr T, Fuster C.

Am J Med Genet A. 2010 Oct;152A(10):2661-3. doi: 10.1002/ajmg.a.33638. No abstract available.

PMID:
20814948
[PubMed - indexed for MEDLINE]
20.

Tissue-limited mosaicism for monosomy 13.

Golabi M, James AW, Good WV, Cotter PD.

Am J Med Genet A. 2010 Oct;152A(10):2634-9. doi: 10.1002/ajmg.a.33651.

PMID:
20814946
[PubMed - indexed for MEDLINE]
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