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Items: 1 to 20 of 9447

1.

Cytogenetics of autosomal fragile sites: A Basque population study.

Arrieta MI, Echarri E, Nuñez T, Gil A, Criado B, Martinez B.

Am J Hum Biol. 1996;8(4):473-481. doi: 10.1002/(SICI)1520-6300(1996)8:4<473::AID-AJHB7>3.0.CO;2-Z.

PMID:
28557084
2.

Down's Syndrome-Transient Abnormal Myelopoiesis and Acute Leukaemia.

Bain B.

Leuk Lymphoma. 1991;3(5-6):309-17. doi: 10.3109/10428199109070274.

PMID:
27467421
3.

Genetic Counseling for Confined Placental Mosaicism: A Case Report.

Kim KS.

J Genet Couns. 1998 Apr;7(2):187-94. doi: 10.1023/A:1022854023469.

PMID:
26141251
4.

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-.

5.

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
6.

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
7.

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.

8.

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.

9.

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
10.

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.

11.

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
12.

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
13.

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
14.

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
15.

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
16.

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
17.

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
18.

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
19.

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.

20.

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

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