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Items: 1 to 20 of 116

1.

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.

D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP.

Am J Med Genet A. 2013 Mar;161A(3):479-86. doi: 10.1002/ajmg.a.35761. Epub 2013 Feb 7.

PMID:
23401328
2.

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Bartnik M, Wiśniowiecka-Kowalnik B, Nowakowska B, Smyk M, Kędzior M, Sobecka K, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Castañeda J, Własienko P, Bezniakow N, Obersztyn E, Bocian E.

Dev Period Med. 2014 Jul-Sep;18(3):307-17.

3.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.

PMID:
11694676
4.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B.

Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21.

PMID:
22283495
5.

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

Wincent J, Anderlid BM, Lagerberg M, Nordenskjöld M, Schoumans J.

Clin Genet. 2011 Feb;79(2):147-57. doi: 10.1111/j.1399-0004.2010.01442.x.

PMID:
20486943
6.

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.

Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. Epub 2006 Mar 10.

PMID:
16564757
7.

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C.

Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29.

PMID:
24782328
8.

Considering specific clinical features as evidence of pathogenic copy number variants.

Preiksaitiene E, Molytė A, Kasnauskiene J, Ciuladaite Z, Utkus A, Patsalis PC, Kučinskas V.

J Appl Genet. 2014 May;55(2):189-96. doi: 10.1007/s13353-014-0197-x. Epub 2014 Feb 18.

PMID:
24535828
9.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.

PMID:
22825934
10.

Oligonucleotide microarrays in constitutional genetic diagnosis.

Keren B, Le Caignec C.

Expert Rev Mol Diagn. 2011 Jun;11(5):521-32. doi: 10.1586/ERM.11.32. Review.

PMID:
21707460
11.

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.

D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E.

BMC Med Genomics. 2014 Dec 24;7:70. doi: 10.1186/s12920-014-0070-0.

12.

[Analysis of copy number variations in 66 children with unexplained mental retardation/developmental delay using chromosomal microarrays].

Li Y, Qiu W, Ye J, Han L, Zhang H, Gu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):703-7. doi: 10.3760/cma.j.issn.1003-9406.2014.06.005. Chinese.

PMID:
25449071
13.

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.

Lay-Son G, Espinoza K, Vial C, Rivera JC, Guzmán ML, Repetto GM.

J Pediatr (Rio J). 2015 Mar-Apr;91(2):189-95. doi: 10.1016/j.jped.2014.07.003. Epub 2014 Oct 30.

14.

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P.

J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3.

15.

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.

Florisson JM, Mathijssen IM, Dumee B, Hoogeboom JA, Poddighe PJ, Oostra BA, Frijns JP, Koster L, de Klein A, Eussen B, de Vries BB, Swagemakers S, van der Spek PJ, Verkerk AJ.

Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 Jan 9.

PMID:
23303641
16.

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN.

Am J Med Genet A. 2013 Mar;161A(3):487-500. doi: 10.1002/ajmg.a.35767. Epub 2013 Jan 23.

PMID:
23345203
17.

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
18.

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.

Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, Gao Z, Yang Y, Cai B, Wang L, Zhou Z, Tian L, Wang X, Zhong N, Qin J, Wu X, Jiang Y.

BMC Med Genet. 2010 May 11;11:72. doi: 10.1186/1471-2350-11-72.

19.

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.

Sharma P, Gupta N, Chowdhury MR, Sapra S, Ghosh M, Gulati S, Kabra M.

Gene. 2016 Sep 15;590(1):109-19. doi: 10.1016/j.gene.2016.06.020. Epub 2016 Jun 9.

PMID:
27291820
20.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

PMID:
21792059

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