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Results: 11

1.

A survey of seizures and current treatments in 15q duplication syndrome.

Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL.

Epilepsia. 2014 Mar;55(3):396-402. doi: 10.1111/epi.12530. Epub 2014 Feb 6.

PMID:
24502430
[PubMed - indexed for MEDLINE]
2.

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.

Di Rocco A, Loggini A, Di Rocco M, Di Rocco P, Rossi RP, Gimelli G, Bazil C.

BMC Neurol. 2013 May 10;13:43. doi: 10.1186/1471-2377-13-43.

PMID:
23663378
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.

Urraca N, Davis L, Cook EH Jr, Schanen NC, Reiter LT.

Genet Test Mol Biomarkers. 2010 Aug;14(4):571-6. doi: 10.1089/gtmb.2010.0030.

PMID:
20642357
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.

Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447.

PMID:
20575009
[PubMed - indexed for MEDLINE]
5.

A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.

Pacanaro AN, Christofolini DM, Kulikowski LD, Belangero SI, da Silva Bellucco FT, Varela MC, Koiffmann CP, Yoshimoto M, Squire JA, Schiavon AV, Heck B, Melaragno MI.

Am J Med Genet A. 2010 Mar;152A(3):753-8. doi: 10.1002/ajmg.a.33308.

PMID:
20186782
[PubMed - indexed for MEDLINE]
6.

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Battaglia A.

Orphanet J Rare Dis. 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. Review.

PMID:
19019226
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.

Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC.

BMC Genet. 2008 Jan 4;9:2. doi: 10.1186/1471-2156-9-2.

PMID:
18177502
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

Eur J Hum Genet. 2007 Sep;15(9):943-9. Epub 2007 May 23.

PMID:
17522620
[PubMed - indexed for MEDLINE]
Free Article
9.

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.

Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP.

Hum Mol Genet. 2006 Mar 15;15(6):853-69. Epub 2006 Jan 30.

PMID:
16446308
[PubMed - indexed for MEDLINE]
Free Article
10.

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.

Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2005 Dec 1;139A(2):106-13.

PMID:
16284940
[PubMed - indexed for MEDLINE]
11.

Maternal uniparental disomy in a patient with Prader-Willi syndrome with an additional small inv dup(15) chromosome.

Wang YM, Chuang L, Wang BT, Kuo PL.

J Formos Med Assoc. 2004 Dec;103(12):943-7.

PMID:
15624046
[PubMed - indexed for MEDLINE]

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