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Results: 1 to 20 of 174

Similar articles for PubMed (Select 24142652)

1.

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB.

Yonsei Med J. 2013 Nov;54(6):1463-70. doi: 10.3349/ymj.2013.54.6.1463.

2.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Houcinat N, Llanas B, Moutton S, Toutain J, Cailley D, Arveiler B, Combe C, Lacombe D, Rooryck C.

Am J Med Genet A. 2015 Jun 26. doi: 10.1002/ajmg.a.37212. [Epub ahead of print]

PMID:
26114937
3.

Obtaining a Genetic Diagnosis in a Child with Disability: Impact on Parental Quality of Life.

Lingen M, Albers L, Borchers M, Haass S, Gärtner J, Schröder S, Goldbeck L, von Kries R, Brockmann K, Zirn B.

Clin Genet. 2015 Jun 18. doi: 10.1111/cge.12629. [Epub ahead of print]

PMID:
26084449
4.

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Tassano E, Mirabelli-Badenier M, Veneselli E, Puliti A, Lerone M, Vaccari CM, Morana G, Porta S, Gimelli G, Cuoco C.

Mol Cytogenet. 2015 Apr 28;8:31. doi: 10.1186/s13039-015-0134-7. eCollection 2015.

5.

[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].

He XY, Chen XC, Li R, Li P, Lu AM.

Zhongguo Dang Dai Er Ke Za Zhi. 2015 May;17(5):459-63. Chinese.

6.

Cognitive phenotypes and genomic copy number variations.

Lupski JR.

JAMA. 2015 May 26;313(20):2029-30. doi: 10.1001/jama.2015.4846. No abstract available.

7.

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

Kolarova J, Tangen I, Bens S, Gillessen-Kaesbach G, Gutwein J, Kautza M, Rydzanicz M, Stephani U, Siebert R, Ammerpohl O, Caliebe A.

Eur J Med Genet. 2015 May 21. pii: S1769-7212(15)00091-9. doi: 10.1016/j.ejmg.2015.05.001. [Epub ahead of print]

PMID:
26003415
8.

Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population.

Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT.

Am J Med Genet A. 2015 May 6. doi: 10.1002/ajmg.a.37134. [Epub ahead of print]

PMID:
25946043
9.

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Knuutila S.

BMC Med Genet. 2014 Nov 18;15:124. doi: 10.1186/s12881-014-0124-3. No abstract available.

10.

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL.

Mol Cytogenet. 2015 Apr 9;8:27. doi: 10.1186/s13039-015-0127-6. eCollection 2015.

11.

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S.

Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16.

PMID:
25877686
12.

TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Piard J, Rozé V, Czorny A, Lenoir M, Valduga M, Fenwick AL, Wilkie AO, Van Maldergem L.

Am J Med Genet A. 2015 Apr 13. doi: 10.1002/ajmg.a.37083. [Epub ahead of print]

PMID:
25871887
13.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Papuc SM, Hackmann K, Andrieux J, Vincent-Delorme C, Budişteanu M, Arghir A, Schrock E, Ţuţulan-Cuniţă AC, Di Donato N.

Eur J Med Genet. 2015 May;58(5):319-23. doi: 10.1016/j.ejmg.2015.03.005. Epub 2015 Apr 6.

PMID:
25858704
14.

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.

Ronzoni L, Peron A, Bianchi V, Baccarin M, Guerneri S, Silipigni R, Lalatta F, Bedeschi MF.

Am J Med Genet A. 2015 Jul;167(7):1551-9. doi: 10.1002/ajmg.a.37063. Epub 2015 Apr 6.

PMID:
25851921
15.

CTNND2 deletion and intellectual disability.

Belcaro C, Dipresa S, Morini G, Pecile V, Skabar A, Fabretto A.

Gene. 2015 Jul 1;565(1):146-9. doi: 10.1016/j.gene.2015.03.054. Epub 2015 Apr 1.

PMID:
25839933
16.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Crippa M, Rusconi D, Castronovo C, Bestetti I, Russo S, Cereda A, Selicorni A, Larizza L, Finelli P.

Mol Cytogenet. 2015 Mar 26;8:20. doi: 10.1186/s13039-015-0126-7. eCollection 2015.

17.

Potocki-Lupski syndrome in conjunction with bilateral clubfoot.

Dhanaraj D, Chu A, Pappas JG, Moran E, Lehman WB.

J Pediatr Orthop B. 2015 Jul;24(4):373-6. doi: 10.1097/BPB.0000000000000131.

PMID:
25768679
18.

Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.

Ahn JW, Coldwell M, Bint S, Mackie Ogilvie C.

J Vis Exp. 2015 Feb 21;(96):e51718. doi: 10.3791/51718.

PMID:
25742425
19.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A.

Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.

PMID:
25728777
20.

Two novel genomic rearrangements identified in suicide subjects using a-CGH array.

Lombardo B, Zarrilli F, Ceglia C, Vitale A, Keller S, Sarchiapone M, Carli V, Stuppia L, Chiariotti L, Castaldo G, Pastore L.

Clin Chem Lab Med. 2015 Feb 13. pii: /j/cclm.ahead-of-print/cclm-2014-1255/cclm-2014-1255.xml. doi: 10.1515/cclm-2014-1255. [Epub ahead of print] No abstract available.

PMID:
25719327
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