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Items: 1 to 20 of 86

1.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.

Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.

2.

Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome.

Rai B, Sharif F.

J Child Neurol. 2015 Mar;30(3):394-6. doi: 10.1177/0883073814533149. Epub 2014 May 9.

PMID:
24813870
3.

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Brisset S, Capri Y, Briand-Suleau A, Tosca L, Gras D, Fauret-Amsellem AL, Pineau D, Saada J, Ortonne V, Verloes A, Goossens M, Tachdjian G, Métay C.

Eur J Med Genet. 2015 Sep;58(9):497-501. doi: 10.1016/j.ejmg.2015.07.001. Epub 2015 Jul 8.

PMID:
26162704
4.

Recurrent 16p11.2 microdeletions in autism.

Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL.

Hum Mol Genet. 2008 Feb 15;17(4):628-38. Epub 2007 Dec 21.

PMID:
18156158
5.

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
6.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.

Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14.

PMID:
25596525
7.

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
8.

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.

Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9.

PMID:
20236110
9.

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J.

Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11.

PMID:
21990074
10.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG.

Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27.

PMID:
21359847
11.

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.

D'Alessandro LC, Werner P, Xie HM, Hakonarson H, White PS, Goldmuntz E.

Congenit Heart Dis. 2014 Jan-Feb;9(1):83-6. doi: 10.1111/chd.12097. Epub 2013 May 20.

12.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.

J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.

PMID:
21984749
13.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15.

14.

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.

Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J.

Am J Med Genet A. 2015 Jun;167(6):1315-22. doi: 10.1002/ajmg.a.36909. Epub 2015 Apr 2.

PMID:
25847113
15.

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

Piccione M, Piro E, Serraino F, Cavani S, Ciccone R, Malacarne M, Pierluigi M, Vitaloni M, Zuffardi O, Corsello G.

Eur J Med Genet. 2012 Apr;55(4):238-44. doi: 10.1016/j.ejmg.2012.01.014. Epub 2012 Feb 18.

PMID:
22406401
16.
17.

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Gimelli S, Stathaki E, Béna F, Leoni M, Di Rocco M, Cuoco C, Tassano E.

Am J Med Genet A. 2014 Mar;164A(3):801-5. doi: 10.1002/ajmg.a.36357. Epub 2013 Dec 20.

PMID:
24591035
18.

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

Rocca MS, Faletra F, Devescovi R, Gasparini P, Pecile V.

Eur J Med Genet. 2013 Jan;56(1):62-5. doi: 10.1016/j.ejmg.2012.10.008. Epub 2012 Nov 7.

PMID:
23142270
19.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.

Eur J Pediatr. 2008 Aug;167(8):903-8. Epub 2007 Oct 12.

20.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649

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