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Items: 1 to 20 of 199

1.

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY, Yu S.

J Hum Genet. 2011 Jul;56(7):541-4. doi: 10.1038/jhg.2011.42. Epub 2011 May 26.

PMID:
21614007
2.

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.

Abdelmoity AT, LePichon JB, Nyp SS, Soden SE, Daniel CA, Yu S.

J Dev Behav Pediatr. 2012 Sep;33(7):570-6. doi: 10.1097/DBP.0b013e31826052ae.

PMID:
22922608
3.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

4.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD.

Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286.

PMID:
20808231
5.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

6.

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.

Gu J, Sreenath Nagamani SC, Hopwood VL, Sanchez B, Saeidinejad Y, Ou Z, Peacock S, Grange DK, Stankiewicz P, Cheung SW.

Am J Med Genet A. 2011 Oct;155A(10):2589-92. doi: 10.1002/ajmg.a.34185. Epub 2011 Sep 9. No abstract available.

PMID:
21910221
7.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH.

Hum Mutat. 2007 Jul;28(7):674-82.

PMID:
17480035
8.
9.

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.

Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA, Hochstenbach R, Poot M.

J Autism Dev Disord. 2009 Feb;39(2):322-9. doi: 10.1007/s10803-008-0627-x. Epub 2008 Aug 12.

PMID:
18696223
10.

Association between microdeletion and microduplication at 16p11.2 and autism.

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium..

N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

11.

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

Nelson M, Quinonez S, Ackley T, Iyer RK, Innis JW.

Am J Med Genet A. 2011 Mar;155A(3):612-7. doi: 10.1002/ajmg.a.33808. Epub 2011 Feb 22.

PMID:
21344629
12.

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J.

Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16.

PMID:
26887912
13.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.

14.

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG.

Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8.

PMID:
21744490
15.

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

Behjati F, Shafaghati Y, Firouzabadi SG, Kahrizi K, Bagherizadeh I, Najmabadi H, Bint S, Ogilvie C.

Eur J Med Genet. 2008 Nov-Dec;51(6):608-14. doi: 10.1016/j.ejmg.2008.06.007. Epub 2008 Jul 12.

PMID:
18674645
16.

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.

Okamoto N, Fujii T, Tanaka J, Saito K, Matsui T, Harada N.

Am J Med Genet A. 2014 Jan;164A(1):213-9. doi: 10.1002/ajmg.a.36217. Epub 2013 Nov 20.

PMID:
24259393
17.

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW.

Eur J Hum Genet. 2011 Mar;19(3):280-6. doi: 10.1038/ejhg.2010.184. Epub 2010 Dec 8.

18.

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.

BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75.

19.

16p subtelomeric duplication: a clinically recognizable syndrome.

Digilio MC, Bernardini L, Capalbo A, Capolino R, Gagliardi MG, Marino B, Novelli A, Dallapiccola B.

Eur J Hum Genet. 2009 Sep;17(9):1135-40. doi: 10.1038/ejhg.2009.14. Epub 2009 Mar 18.

20.

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V.

J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20. No abstract available.

PMID:
21931978

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