PubMed

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.

Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, Jones M, Chandrasekharappa SC, Lewy AJ, Smith AC, Magenis RE.

Am J Med Genet A. 2009 Jul;149A(7):1382-91.PMID: 19530184 [PubMed - indexed for MEDLINE]Related articlesFree article

Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study.

Hino-Fukuyo N, Haginoya K, Uematsu M, Nakayama T, Kikuchi A, Kure S, Kamada F, Abe Y, Arai N, Togashi N, Onuma A, Tsuchiya S.

J Child Neurol. 2009 Jul;24(7):868-73. Epub 2009 Mar 4.PMID: 19264735 [PubMed - indexed for MEDLINE]Related articles

A functional network module for Smith-Magenis syndrome.

Girirajan S, Truong HT, Blanchard CL, Elsea SH.

Clin Genet. 2009 Apr;75(4):364-74. Epub 2009 Feb 19.PMID: 19236431 [PubMed - indexed for MEDLINE]Related articles

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH.

Genet Test. 2008 Mar;12(1):67-73.PMID: 18373405 [PubMed - indexed for MEDLINE]Related articles

Smith-Magenis syndrome.

Elsea SH, Girirajan S.

Eur J Hum Genet. 2008 Apr;16(4):412-21. Epub 2008 Jan 30. Review.PMID: 18231123 [PubMed - indexed for MEDLINE]Related articlesFree article

Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2).

Niederhofer H.

Psychiatr Danub. 2007 Sep;19(3):189-92.PMID: 17914318 [PubMed - indexed for MEDLINE]Related articles

Stroke after cardiac surgery in a patient with Smith-Magenis syndrome.

Chaudhry AP, Schwartz C, Singh AK.

Tex Heart Inst J. 2007;34(2):247-9.PMID: 17622381 [PubMed - indexed for MEDLINE]Related articlesFree article

End-stage renal failure in Smith-Magenis syndrome.

Myers SM, Challman TD, Bock GH.

Am J Med Genet A. 2007 Aug 15;143A(16):1922-4. No abstract available. PMID: 17603799 [PubMed - indexed for MEDLINE]Related articles

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH.

Clin Genet. 2007 Jul;72(1):47-58.PMID: 17594399 [PubMed - indexed for MEDLINE]Related articles

Social phenotypes in neurogenetic syndromes.

Feinstein C, Singh S.

Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):631-47. Review.PMID: 17562583 [PubMed - indexed for MEDLINE]Related articles

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH.

Clin Genet. 2007 Jun;71(6):540-50.PMID: 17539903 [PubMed - indexed for MEDLINE]Related articles

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA.

Hum Genet. 2007 Jul;121(6):697-709. Epub 2007 Apr 25.PMID: 17457615 [PubMed - indexed for MEDLINE]Related articlesFree article

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH.

Am J Med Genet A. 2007 May 1;143A(9):999-1008.PMID: 17431895 [PubMed - indexed for MEDLINE]Related articles

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR.

Am J Hum Genet. 2007 Apr;80(4):633-49. Epub 2007 Feb 26.PMID: 17357070 [PubMed - indexed for MEDLINE]Related articlesFree article

New developments in Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Elsea S, Duncan WC Jr, Smith AC.

Curr Opin Neurol. 2007 Apr;20(2):125-34. Review.PMID: 17351481 [PubMed - indexed for MEDLINE]Related articles

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.PMID: 17041942 [PubMed - indexed for MEDLINE]Related articles

Craniofacial and dental phenotype of Smith-Magenis syndrome.

Tomona N, Smith AC, Guadagnini JP, Hart TC.

Am J Med Genet A. 2006 Dec 1;140(23):2556-61.PMID: 17001665 [PubMed - indexed for MEDLINE]Related articles

Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment.

De Leersnyder H.

Trends Endocrinol Metab. 2006 Sep;17(7):291-8. Epub 2006 Aug 4. Review.PMID: 16890450 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH.

Genet Med. 2006 Jul;8(7):417-27.PMID: 16845274 [PubMed - indexed for MEDLINE]Related articles

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.

Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L.

J Dev Behav Pediatr. 2006 Jun;27(3):188-92.PMID: 16775514 [PubMed - indexed for MEDLINE]Related articles