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Results: 1 to 20 of 64

1.

Aberrant white matter microstructure in children with 16p11.2 deletions.

Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P; Simons VIP Consortium.

J Neurosci. 2014 Apr 30;34(18):6214-23. doi: 10.1523/JNEUROSCI.4495-13.2014.

PMID:
24790192
[PubMed - indexed for MEDLINE]
2.

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Weber A, Köhler A, Hahn A, Neubauer B, Müller U.

Neurogenetics. 2013 Nov;14(3-4):251-3. doi: 10.1007/s10048-013-0376-7. Epub 2013 Oct 8.

PMID:
24100940
[PubMed - indexed for MEDLINE]
3.

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC.

Am J Med Genet A. 2013 Jul;161A(7):1722-5. doi: 10.1002/ajmg.a.35946. Epub 2013 May 17.

PMID:
23686817
[PubMed - indexed for MEDLINE]
4.

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P.

Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8.

PMID:
23657883
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

Walters RG, Coin LJ, Ruokonen A, de Smith AJ, El-Sayed Moustafa JS, Jacquemont S, Elliott P, Esko T, Hartikainen AL, Laitinen J, Männik K, Martinet D, Meyre D, Nauck M, Schurmann C, Sladek R, Thorleifsson G, Thorsteinsdóttir U, Valsesia A, Waeber G, Zufferey F, Balkau B, Pattou F, Metspalu A, Völzke H, Vollenweider P, Stefansson K, Järvelin MR, Beckmann JS, Froguel P, Blakemore AI.

PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12.

PMID:
23554873
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Implication of a rare deletion at distal 16p11.2 in schizophrenia.

Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2.

JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71.

PMID:
23325106
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.

D'Angelo CS, Koiffmann CP.

J Obes. 2012;2012:845480. doi: 10.1155/2012/845480. Epub 2012 Dec 17. Review.

PMID:
23316347
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203.

PMID:
23054248
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth.

George AM, Taylor J, Love DR.

Genet Mol Res. 2012 Sep 3;11(3):3133-7.

PMID:
23007991
[PubMed - indexed for MEDLINE]
Free Article
10.

Infantile spasms are associated with abnormal copy number variations.

Tiwari VN, Sundaram SK, Chugani HT, Huq AH.

J Child Neurol. 2013 Oct;28(10):1191-6. doi: 10.1177/0883073812453496. Epub 2012 Aug 21.

PMID:
22914377
[PubMed - indexed for MEDLINE]
11.

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.

PMID:
22909774
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Copy number variations in neurodevelopmental disorders.

Grayton HM, Fernandes C, Rujescu D, Collier DA.

Prog Neurobiol. 2012 Oct;99(1):81-91. doi: 10.1016/j.pneurobio.2012.07.005. Epub 2012 Jul 17. Review.

PMID:
22813947
[PubMed - indexed for MEDLINE]
13.

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5. Erratum in: Genet Med. 2013 Jul;15(7):587-8.

PMID:
22766611
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N.

Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091.

PMID:
22596160
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.

Kino T, Pavlatou MG, Moraitis AG, Nemery RL, Raygada M, Stratakis CA.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1557-66. doi: 10.1210/jc.2011-3493. Epub 2012 May 10.

PMID:
22577170
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

Blaker-Lee A, Gupta S, McCammon JM, De Rienzo G, Sive H.

Dis Model Mech. 2012 Nov;5(6):834-51. doi: 10.1242/dmm.009944. Epub 2012 May 1.

PMID:
22566537
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

Simons Vip Consortium.

Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.

PMID:
22445335
[PubMed - indexed for MEDLINE]
Free Article
18.

Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample.

Degenhardt F, Priebe L, Herms S, Mattheisen M, Mühleisen TW, Meier S, Moebus S, Strohmaier J, Groß M, Breuer R, Lange C, Hoffmann P, Meyer-Lindenberg A, Heinz A, Walter H, Lucae S, Wolf C, Müller-Myhsok B, Holsboer F, Maier W, Rietschel M, Nöthen MM, Cichon S.

Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):263-73. doi: 10.1002/ajmg.b.32034. Epub 2012 Feb 17.

PMID:
22344817
[PubMed - indexed for MEDLINE]
19.

Biologic tumor behavior in pilocytic astrocytomas.

Belirgen M, Berrak SG, Ozdag H, Bozkurt SU, Eksioglu-Demiralp E, Ozek MM.

Childs Nerv Syst. 2012 Mar;28(3):375-89. doi: 10.1007/s00381-011-1676-6. Epub 2012 Jan 14.

PMID:
22246337
[PubMed - indexed for MEDLINE]
20.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C.

Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

PMID:
22234155
[PubMed - indexed for MEDLINE]
Free PMC Article

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