Otwarty dostęp

A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder


Zacytuj

Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012; 2(3-5): 186-201.PhelanKMcDermidHE.The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome)Mol Syndromol201223-518620110.1159/000334260Search in Google Scholar

Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: A “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism. 2013; 4(1): 17. doi: 10.1186/2040-2392-4-18.BetancurCBuxbaumJD.SHANK3 haploinsufficiency: A “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disordersMol Autism20134117doi: 10.1186/2040-2392-4-18Open DOISearch in Google Scholar

Costales JL, Kolevzon A. Phelan-McDermid Syndrome and SHANK3: Implications for treatment. Neuro-therapeutics. 2015; 12(3): 620-630.CostalesJLKolevzonA.Phelan-McDermid Syndrome and SHANK3: Implications for treatmentNeuro-therapeutics201512362063010.1007/s13311-015-0352-zSearch in Google Scholar

Persico AM, Napolioni V. Autism genetics. Behav Brain Res. 2013; 15; 95-112. doi: 10.1016/j.bbr.2013. 06.012.PersicoAMNapolioniV.Autism geneticsBehav Brain Res20131595112doi: 10.1016/j.bbr.06.012Open DOISearch in Google Scholar

Bozdagi O, Tavassoli T, Buxbaum JD. Insulin-like growth factor-1 rescues synaptic and motor deficits in a Mouse model of autism and developmental delay. Mol Autism. 2013; 4(1): 9. doi: 10.1186/2040-2392-4-9.BozdagiOTavassoliTBuxbaumJDInsulin-like growth factor-1 rescues synaptic and motor deficits in a Mouse model of autism and developmental delayMol Autism2013419doi: 10.1186/2040-2392-4-9Open DOISearch in Google Scholar

Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013; 4(1): 18. doi: 10.1186/2040-2392-4-18.SooryaLKolevzonAZweifachJLimTDobryYSchwartzLet alProspective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiencyMol Autism20134118doi: 10.1186/2040-2392-4-18Open DOISearch in Google Scholar

Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, et al. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet. 2009; 17(1): 37-43.GlancyMBarnicoatAVijeratnamRde SouzaSGilmoreJHuangSet alTransmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficultiesEur J Hum Genet2009171374310.1038/ejhg.2008.133Search in Google Scholar

Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, et al. Duplication of 8p23.2: A benign cytogenetic variant? Am J Med Genet. 2002; 111(3): 285-288.HaradaNTakanoJKondohTOhashiHHasegawaTSugawaraHet alDuplication of 8p23.2: A benign cytogenetic variant?Am J Med Genet2002111328528810.1002/ajmg.10584Search in Google Scholar

Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, et al. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. eur J Hum Genet. 2005; 13(10): 1131-1136.BarberJCMaloneyVHolloxEJStuke-SontheimerGdu BoisGDaumillerEet alDuplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular leveleur J Hum Genet200513101131113610.1038/sj.ejhg.5201475Search in Google Scholar

Kennedy SJ, Teebi AS, Adatia I, Teshima I. Inherited duplication, dup(8)(p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet. 2001; 104(1): 79-80.KennedySJTeebiASAdatiaITeshimaI.Inherited duplication, dup(8)(p23.1p23.1) pat, in a father and daughter with congenital heart defectsAm J Med Genet20011041798010.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-TSearch in Google Scholar

eISSN:
1311-0160
Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medicine, Basic Medical Science, other