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Items: 1 to 20 of 35

1.

Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome.

Hassfurther A, Komini E, Fischer J, Leipoldt M.

Mol Syndromol. 2016 Feb;6(5):222-8. doi: 10.1159/000443343. Epub 2016 Jan 16.

PMID:
26997942
2.

Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.

Haeri M, Gelowani V, Beaudet AL.

MethodsX. 2015 Dec 2;3:8-18. doi: 10.1016/j.mex.2015.11.005. eCollection 2016.

3.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

Yuan H, Meng Z, Zhang L, Luo X, Liu L, Chen M, Li X, Zhao W, Liang L.

Mol Cytogenet. 2016 Jan 11;9:2. doi: 10.1186/s13039-016-0214-3. eCollection 2016.

4.

The human clinical phenotypes of altered CHRNA7 copy number.

Gillentine MA, Schaaf CP.

Biochem Pharmacol. 2015 Oct 15;97(4):352-62. doi: 10.1016/j.bcp.2015.06.012. Epub 2015 Jun 18. Review.

PMID:
26095975
5.

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.

6.

Duplicated copy of CHRNA7 increases risk and worsens prognosis of COPD and lung cancer.

Yang L, Lu X, Qiu F, Fang W, Zhang L, Huang D, Xie C, Zhong N, Ran P, Zhou Y, Lu J.

Eur J Hum Genet. 2015 Aug;23(8):1019-24. doi: 10.1038/ejhg.2014.229. Epub 2014 Nov 19.

PMID:
25407004
7.

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE.

Am J Hum Genet. 2014 Oct 2;95(4):454-61. doi: 10.1016/j.ajhg.2014.09.005.

8.

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, Lourenço NC, Takahashi VN, da Rocha KM, Moreira ES, Vadasz E, Meira JG, Bertola D, O'Halloran E, Magalhães TR, Fett-Conte AC, Passos-Bueno MR.

PLoS One. 2014 Sep 25;9(9):e107705. doi: 10.1371/journal.pone.0107705. eCollection 2014.

9.

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR.

Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14.

10.

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP.

Eur J Hum Genet. 2014 Sep;22(9):1071-6. doi: 10.1038/ejhg.2013.302. Epub 2014 Jan 15.

11.

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.

12.

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

Rozycka A, Dorszewska J, Steinborn B, Lianeri M, Winczewska-Wiktor A, Sniezawska A, Wisniewska K, Jagodzinski PP.

DNA Cell Biol. 2013 Nov;32(11):640-7. doi: 10.1089/dna.2012.1880. Epub 2013 Sep 11.

13.

Genetic architecture of reciprocal CNVs.

Golzio C, Katsanis N.

Curr Opin Genet Dev. 2013 Jun;23(3):240-8. doi: 10.1016/j.gde.2013.04.013. Epub 2013 Jun 5. Review.

14.

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.

15.

Global increases in both common and rare copy number load associated with autism.

Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB.

Hum Mol Genet. 2013 Jul 15;22(14):2870-80. doi: 10.1093/hmg/ddt136. Epub 2013 Mar 27.

16.

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT.

Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14.

17.

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Beaudet AL.

Child Dev. 2013 Jan-Feb;84(1):121-32. doi: 10.1111/cdev.12050. Epub 2013 Jan 11.

18.

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay.

Kim JS, Park J, Min BJ, Oh SK, Choi JS, Woo MJ, Chae JH, Kim KJ, Hwang YS, Lim BC.

Korean J Pediatr. 2012 Dec;55(12):487-90. doi: 10.3345/kjp.2012.55.12.487. Epub 2012 Dec 20.

19.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.

Wiśniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczałuba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.

Eur J Hum Genet. 2013 Jun;21(6):620-5. doi: 10.1038/ejhg.2012.219. Epub 2012 Oct 3.

20.

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A.

Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217. Epub 2012 Oct 11.

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