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Items: 1 to 20 of 171

1.

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder.

Delorme R, Moreno-De-Luca D, Gennetier A, Maier W, Chaste P, Mössner R, Grabe HJ, Ruhrmann S, Falkai P, Mouren MC, Leboyer M, Wagner M, Betancur C.

BMC Med Genet. 2010 Jun 21;11:100. doi: 10.1186/1471-2350-11-100.

2.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025.

PMID:
19278672
3.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.

Eur J Hum Genet. 2006 Jul;14(7):831-7.

4.

Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers.

Molina O, Blanco J, Vidal F.

Mol Hum Reprod. 2010 May;16(5):320-8. doi: 10.1093/molehr/gaq005.

5.

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.

Bittel DC, Kibiryeva N, Butler MG.

Pediatrics. 2006 Oct;118(4):e1276-83.

PMID:
16982806
6.

Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.

Takahashi S, Suzuki T, Nakamura-Tomizuka S, Osaki K, Sotome Y, Sagawa T, Uchiyama M.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jun;168B(4):229-35. doi: 10.1002/ajmg.b.32307.

PMID:
25776014
7.

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.

PMID:
20931230
9.

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA.

Am J Med Genet A. 2012 Oct;158A(10):2557-63. doi: 10.1002/ajmg.a.35549.

PMID:
22903639
10.

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.

Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ.

Eur J Hum Genet. 2012 Mar;20(3):283-90. doi: 10.1038/ejhg.2011.187.

11.

Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.

Gothelf D, Presburger G, Zohar AH, Burg M, Nahmani A, Frydman M, Shohat M, Inbar D, Aviram-Goldring A, Yeshaya J, Steinberg T, Finkelstein Y, Frisch A, Weizman A, Apter A.

Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):99-105.

PMID:
15048657
12.

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.

Hum Mol Genet. 1999 Jun;8(6):1025-37.

13.

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.

Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY, Kiemeney LA, Franke B, Tosato S, Bonetto C, Saemundsen E, Hreidarsson SJ; GROUP Investigators., Nöthen MM, Gurling H, O'Donovan MC, Owen MJ, Sigurdsson E, Petursson H, Stefansson H, Rujescu D, Stefansson K, Werge T.

Am J Psychiatry. 2011 Apr;168(4):408-17. doi: 10.1176/appi.ajp.2010.09111660.

14.

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW.

Hum Mol Genet. 2008 Dec 15;17(24):4045-53. doi: 10.1093/hmg/ddn307. Erratum in: Hum Mol Genet. 2009 May 1;18(9):1717.

15.

Detailed analysis of 22q11.2 with a high density MLPA probe set.

Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS.

Hum Mutat. 2008 Mar;29(3):433-40.

16.

Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.

Wu D, Chen Y, Xu C, Wang K, Wang H, Zheng F, Ma D, Wang G.

PLoS One. 2013;8(1):e54404. doi: 10.1371/journal.pone.0054404.

17.

Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings.

Dimitropoulos A, Schultz RT.

Curr Psychiatry Rep. 2007 Apr;9(2):159-64. Review.

PMID:
17389128
18.

Concurrent microdeletion and duplication of 22q11.2.

Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B.

Clin Genet. 2008 Jul;74(1):61-7. doi: 10.1111/j.1399-0004.2008.01008.x.

PMID:
18445048
19.
20.

Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.

Butler MG, Fischer W, Kibiryeva N, Bittel DC.

Am J Med Genet A. 2008 Apr 1;146A(7):854-60. doi: 10.1002/ajmg.a.32249.

PMID:
18266248
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