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Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics


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Leonard H, Wen X. The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev. 2002; 8(3): 117-134.LeonardHWenXThe epidemiology of mental retardation: Challenges and opportunities in the new millenniumMent Retard Dev Disabil Res Rev20028311713410.1002/mrdd.10031Search in Google Scholar

Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, et al. A novel micro-deletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet. 2013; 56(3): 163-170.Boudry-LabisEDemeerBLe CaignecCIsidorBMathieu-DramardMPlessisGA novel micro-deletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresEur J Med Genet201356316317010.1016/j.ejmg.2012.12.006Search in Google Scholar

Baglietto Mg, Caridi G, Gimelli G, Mancardi M, Prato G, Ronchetto P, et al. RORB gene and 9q21.13 mi-crodeletion: Report on a patient with epilepsy and mild intellectual disability. Eur J Med Genet. 2014; 57(1): 44-46.BagliettoMgCaridiGGimelliGMancardiMPratoGRonchettoPRORB gene and 9q21.13 mi-crodeletion: Report on a patient with epilepsy and mild intellectual disabilityEur J Med Genet2014571444610.1016/j.ejmg.2013.12.001Search in Google Scholar

Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004; 107(1-2): 55-67.LiehrTClaussenUStarkeHSmall supernumerary marker chromosomes (sSMC) in humansCytogenet Genome Res20041071-2556710.1159/000079572Search in Google Scholar

Azadi S, Zhang Y, Caffe AR, Holmqvist B, Van Veen T Thyroid-β2 and the retinoid RAR-α, RXR-γ and ROR-β2 receptor mRNAs; expression profiles in mouse retina, retinal explants and neocortex. Neuroreport. 2002; 13(6): 745-750.AzadiSZhangYCaffeARHolmqvistBVan Veen T Thyroid-β2 and the retinoid RAR-α, RXR-γ and ROR-β2 receptor mRNAs; expression profiles in mouse retina, retinal explants and neocortexNeuroreport200213674575010.1097/00001756-200205070-00003Search in Google Scholar

Nakagawa Y, O’Leary DD. Dynamic patterned expression of orphan nuclear receptor genes RORα and RORβ in developing mouse forebrain. Dev Neurosci. 2003; 25(2-4): 234-244.NakagawaYO’LearyDDDynamic patterned expression of orphan nuclear receptor genes RORα and RORβ in developing mouse forebrainDev Neurosci2003252-423424410.1159/000072271Search in Google Scholar

Andre E, Conquet F, Steinmayr M, Stratton SC, Porciatti V, Becker-Andre M. Disruption of retinoid-related orphan receptor β changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice. EMBO J. 1998b;17(14):3867-3877.AndreEConquetFSteinmayrMStrattonSCPorciattiVBecker-AndreMDisruption of retinoid-related orphan receptor β changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in miceEMBO J1998b17143867387710.1093/emboj/17.14.3867Search in Google Scholar

Masana MI, Sumaya IC, Becker-Andre M, Dubocovich ML. Behavioral characterization and modulation of circadian rhythms by light and melatonin in C3H/HeN mice homozygous for the RORβ knockout. Am J Physiol Regul Integr Comp Physiol. 2007; 292(6): R2357-R2367.MasanaMISumayaICBecker-AndreMDubocovichMLBehavioral characterization and modulation of circadian rhythms by light and melatonin in C3H/HeN mice homozygous for the RORβ knockoutAm J Physiol Regul Integr Comp Physiol20072926R2357R236710.1152/ajpregu.00687.2006Search in Google Scholar

Mcgrath CL, Glatt SJ, Sklar P, Le-Niculescu H, Kuczenski R, Doyle AE, et al. Evidence for genetic association of RORB with bipolar disorder. BMC Psychiatry. 2009; 9:70.McgrathCLGlattSJSklarPLe-NiculescuHKuczenskiRDoyleAEEvidence for genetic association of RORB with bipolar disorderBMC Psychiatry200997010.1186/1471-244X-9-70Search in Google Scholar

Ersland Km, Christoforou A, Stansberg C, Espeseth T, Mattheisen M, Mattingsdal M, et al. Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders. PLoS One. 2012; 7(2): e31687.ErslandKmChristoforouAStansbergCEspesethTMattheisenMMattingsdalMGene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disordersPLoS One201272e3168710.1371/journal.pone.0031687Search in Google Scholar

Potkin SG, Guffanti G, Lakatos A, Turner JA, Kruggel F, Fallon JH, et al. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer’s disease. PLoS One. 2009; 4(8): e6501.PotkinSGGuffantiGLakatosATurnerJAKruggelFFallonJHHippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer’s diseasePLoS One200948e650110.1371/journal.pone.0006501Search in Google Scholar

Chitramuthu BP, Baranowski DC, Cadieux B, Rousselet E, Seidah NG, Bennett HP. Molecular cloning and embryonic expression of zebra fish PCSK5 coorthologues: Functional assessment during lateral line development. Dev Dyn. 2010; 239(11): 2933-2946.ChitramuthuBPBaranowskiDCCadieuxBRousseletESeidahNGBennettHPMolecular cloning and embryonic expression of zebra fish PCSK5 coorthologues: Functional assessment during lateral line developmentDev Dyn2010239112933294610.1002/dvdy.22426Search in Google Scholar

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