Hier finden Sie eine Liste mit allen wissenschaftlichen Publikationen rund um den Gendefekt MAND/2q23,1MDS. Wir wünschen viel Spaß beim Stöbern.

• Mullegama S.V., Rosenfeld J.A., Elsea S.H., et al: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder, European Journal of Human Genetics 22, 57-63 (2014)

• Talkowski M.E., Mullegama S.V., Rosenfeld J.A., et al: Assessment of 2q23.1 micro deletion syndrome implicates MBD5 as a single casual locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics; 89: 551-563 (2011)

• Chung B.H., Mullegama S.V., Marshall, C.R., et al: Severe intellectual disability and autistic features associated with micro duplication 2q23.1. European Journal of Human Genetics, 20: 398-403 (2012)

• Motobayashi M., Nishimura-Tadaki A., Inaba Y., et al: Neurodevelopmental features in 2q23.1 micro deletion syndrome: report of a new patient with intertractable seizures and review of literature. American Journal of Human Genetics, 158a,: 861-868 (2012)

• Bregje, W.M. van Bon, Koolen, D.A., de Vries, B.A. et al: The 2q23.1 micro deletion syndrome: clinical and behavioral phenotype, European Journal of Human Genetics, 18, 163-170 (2010)

• Jaillard, S., Dubourg, C., Gérard-Blanluet, M. et al: 2q23.1 micro deletion identified by array comparative genomic hybridization: an emerging phenotype with Angelman-like features? Journal of Medical Genetics, 46: 847-855 (2009)

• Camarena, V., Cao, l., Abad, C., et al: Disruption of Mbd5 in mice causes neuronal function defects and neurobehavioral abnormalities consistent with 2q23.1 micro deletion syndrome, EMBO Molecular Medicine, 6,1003-1015 (2014)

• Noh, Grace J., Graham Jr, John M.: 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features, European Journal of Medical Genetics, 55, 354-357 (2012)

• Mullegama S.V., Alaimo, J.T., Chen, L., and Elsea, S.H.: Phenotypic and Molecular Convergence of 2q231. eletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder, International Journal of Molecular Science, 16(4), 7627-7643 (2015)

• Williams, S.R., Mullegama, S.V., Rosenfeld, J.A., et al: Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, and seizures, European Journal of Human Genetics, 18, 436-441 (2010)

• Chung, B.H.Y., Stavropoulos, J., Marshall, C.R., et al: 2q23 de novo micro deletion involving MBD5 in a patient with developmental delay, postnatal microcephaly and distinct facial features, American Journal of Medical Genetics, Part A, 155, 424-429

• Nevado, Julián et al: New micro deletion and micro duplication syndromes: a comprehensive review, Genetics and molecular Biology, 37, 210-219 (2014)

• Cargill, G.L. and Mefford, H.C.: Microdeletion syndromes, Genetics & Development, 23, 232-239 (2013)

• Tan, W.-H., Bird, L.M., Thibert, R.L., Williams, C.A.: If not Angelman, what is it? A review of Angelman-like syndromes, American Journal of Medical Genetics, (2014)

• Du, X., An, Y., Yu, L., et al: A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion, BMC Medical Genetics, 15, (2014)

• Koolen, D.A., Vissers, L.E.L.M., Nillesen, W.,et al: A novel micro deletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization, Clinical Genetics, 65, 429-432 (2004)

• Shichiji, M., Ito, Y., Shimojima, K., Nakamu, H., Oguni, H., Osawa, M., Yamamoto, T.: A cryptic microdeletion including MBD5 occurring within the breakpoint of reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity, American Journal of Genetics Part A, 161A, 850-855 (2013)

• Jaillard, S., Drunant, S., Bendavid, C., et al, Identifications of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series, European Journal of Medical Genetics, 53, 66-75 (2010)

• Woodbury-Smith, M., Nicholson, R., Zaren, M., et al: Variable phenotype expression in a family segregating micro deletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes, Genomic Medicine, 2 (2017)

• Mullegama, S.V. & Elsea, S.H.: Clinical Aspects of MBD5-Associated Neurodevelopmental Disorders (MAND), European Journal of Human Genetics, 24, 1235-1243 (2016)

• Mullegama, S.V., Pugliesi, L., Burns, B., et al: MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magens and fragile X syndromes, European Journal of Human Genetics, 23, 781-789 (2015)

• Kwon, D.Y. and Zhou, Z.: Trapping MBD5 to understand 2q23.1 microdeletion syndrome, EMBO Molecular Medicine, 6, 993-994 (2014)

• Williams, H.J., Monks, S., Murphy, K.C., et al: Schizophrenia two-hit hypothesis in velocity-cardio facial syndrome, American Journal of Medical Genetics, Part B, 162B, 177-182 (2013)

• Hodge, J.C., Mitchell, E., Talkowski, M.E., et al, Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopment abnormalities, Molecular Psychiatry, 19, 368-379 (2014)

• Walz, K. & Young, J.I.: The methyl binding domain containing protein MBD5 is transcriptional regulator responsible for 2q23.1 deletion syndrome, Rare Diseases, 

• Bonnet, C., Khan, A.A., Bresso, E., et al: Extended spectrum of MBD5 mutations in neurodevelopment disorders, European Journal of Human Genetics, 21, 1457-1461 (2013)

• Gandhi, A., Zhou D., Alaimo, J., Fountain M., Elsea, S.: Composite Sleep Problems Observed Across Smith-Magenis Syndrom, MBD5-Associated Neurolodevelopmental Disorder, Pitt-hopkins Syndrome, and ASD, Journal of Autism and Developmental Disorders (2020). http://doi.org/10.1007/s10803-020-04666-2

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Die Liste der Publikationen wird regelmäßig ergänzt. In Zukunft werden alle Publikationen verlinkt. Wir bitten, in der Zwischenzeit, die Publikationen zu kopieren und im eigenen Webbrowser zu suchen.