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Items: 1 to 20 of 177

1.

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.

Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND.

J Med Genet. 2013 Mar;50(3):163-73. doi: 10.1136/jmedgenet-2012-101288. Epub 2013 Jan 18. Erratum in: J Med Genet. 2013 Apr;50(4):270.

PMID:
23335808
2.

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J.

Am J Med Genet A. 2013 Apr;161A(4):835-40. doi: 10.1002/ajmg.a.35739. Epub 2013 Mar 12.

PMID:
23494856
3.

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D.

Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7.

4.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T.

Eur J Hum Genet. 2010 Apr;18(4):429-35. doi: 10.1038/ejhg.2009.192. Epub 2009 Nov 18.

5.

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.

Peters SU, Horowitz L, Barbieri-Welge R, Taylor JL, Hundley RJ.

J Child Psychol Psychiatry. 2012 Feb;53(2):152-9. doi: 10.1111/j.1469-7610.2011.02455.x. Epub 2011 Aug 10.

PMID:
21831244
6.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
7.

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.

Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24.

PMID:
23711909
8.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME.

Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Review.

PMID:
23727450
9.

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L.

Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4.

PMID:
22488896
10.

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW.

Am J Med Genet A. 2012 Apr;158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9.

11.

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.

Seeley AH, Durham MA, Micale MA, Wesolowski J, Foerster BR, Martin DM.

Am J Med Genet A. 2014 Aug;164A(8):2062-8. doi: 10.1002/ajmg.a.36569. Epub 2014 Apr 9.

12.

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.

Sacharow S, Li D, Fan YS, Tekin M.

Am J Med Genet A. 2012 Mar;158A(3):547-52. doi: 10.1002/ajmg.a.34436. Epub 2012 Feb 3.

PMID:
22307766
13.

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW.

Eur J Hum Genet. 2012 Dec;20(12):1240-7. doi: 10.1038/ejhg.2012.95. Epub 2012 May 23.

14.

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG.

Gene. 2014 Feb 1;535(1):70-8. doi: 10.1016/j.gene.2013.10.020. Epub 2013 Nov 2.

15.

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26.

PMID:
23184435
16.

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG.

PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349.

17.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P.

BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z.

18.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C.

Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Erratum in: Am J Hum Genet. 2009 Oct;85(4):537. multiple author names added.

19.

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW.

Ann Lab Med. 2014 Sep;34(5):390-4. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21.

20.

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L.

Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9.

PMID:
24817631

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