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Results: 1 to 20 of 106

Similar articles for PubMed (Select 23664828)

1.

Microdeletion syndromes.

Carvill GL, Mefford HC.

Curr Opin Genet Dev. 2013 Jun;23(3):232-9. doi: 10.1016/j.gde.2013.03.004. Epub 2013 May 9. Review.

PMID:
23664828
2.

Microdeletion and microduplication syndromes.

Vissers LE, Stankiewicz P.

Methods Mol Biol. 2012;838:29-75. doi: 10.1007/978-1-61779-507-7_2.

PMID:
22228006
3.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.

4.

Duplication hotspots, rare genomic disorders, and common disease.

Mefford HC, Eichler EE.

Curr Opin Genet Dev. 2009 Jun;19(3):196-204. doi: 10.1016/j.gde.2009.04.003. Epub 2009 May 22. Review.

5.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

6.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.

Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Review.

PMID:
22083797
7.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM.

Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19.

PMID:
25044251
8.

Recent developments in the genetics of autism spectrum disorders.

Murdoch JD, State MW.

Curr Opin Genet Dev. 2013 Jun;23(3):310-5. doi: 10.1016/j.gde.2013.02.003. Epub 2013 Mar 25. Review.

PMID:
23537858
9.

Microdeletion and microduplication syndromes.

Weise A, Mrasek K, Klein E, Mulatinho M, Llerena JC Jr, Hardekopf D, Pekova S, Bhatt S, Kosyakova N, Liehr T.

J Histochem Cytochem. 2012 May;60(5):346-58. doi: 10.1369/0022155412440001. Epub 2012 Mar 6. Review.

10.

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.

11.

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE.

PLoS Genet. 2011 Nov;7(11):e1002334. doi: 10.1371/journal.pgen.1002334. Epub 2011 Nov 10.

12.

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V.

J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20. No abstract available.

PMID:
21931978
14.

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.

Wu J, Li Y, Jiang R.

PLoS Genet. 2014 Mar 20;10(3):e1004237. doi: 10.1371/journal.pgen.1004237. eCollection 2014 Mar.

15.

Human copy number variation and complex genetic disease.

Girirajan S, Campbell CD, Eichler EE.

Annu Rev Genet. 2011;45:203-26. doi: 10.1146/annurev-genet-102209-163544. Epub 2011 Aug 19.

PMID:
21854229
16.

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Weber A, Köhler A, Hahn A, Neubauer B, Müller U.

Neurogenetics. 2013 Nov;14(3-4):251-3. doi: 10.1007/s10048-013-0376-7. Epub 2013 Oct 8.

PMID:
24100940
17.

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE.

Genome Res. 2009 Sep;19(9):1579-85. doi: 10.1101/gr.094987.109. Epub 2009 Jun 8.

18.

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.

19.

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Città S, Buono S, Greco D, Barone C, Alfei E, Bulgheroni S, Usilla A, Pantaleoni C, Romano C.

Am J Med Genet A. 2013 Dec;161A(12):3018-22. doi: 10.1002/ajmg.a.36142. Epub 2013 Sep 24.

PMID:
24214349
20.

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.

BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75.

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