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Page 1
Genetic analysis of intellectual disability and autism.
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M. Chiurazzi P, et al. Acta Biomed. 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. Acta Biomed. 2020. PMID: 33170170 Free PMC article. Review.
Almost 1-3% of the population is affected and it has been estimated that approximately 30% of intellectual disability and autism is caused by genetic factors. The aim of this review is to summarize monogenic conditions characterized by intellectual disabil …
Almost 1-3% of the population is affected and it has been estimated that approximately 30% of intellectual disability and auti …
Genetics of early onset cognitive impairment.
Ropers HH. Ropers HH. Annu Rev Genomics Hum Genet. 2010;11:161-87. doi: 10.1146/annurev-genom-082509-141640. Annu Rev Genomics Hum Genet. 2010. PMID: 20822471 Review.
Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, it has received very little public attention. ...Cytogenetically detectable and submicroscopic chromosomal rearrangements account for approxi …
Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, i …
Some problems in the genetics of X-linked mental retardation.
Tariverdian G, Vogel F. Tariverdian G, et al. Cytogenet Cell Genet. 2000;91(1-4):278-84. doi: 10.1159/000056857. Cytogenet Cell Genet. 2000. PMID: 11173869 Review.
X-linked mental retardation has recently become one of the most interesting genetic anomalies. ...Since the early 1980s, the number of disease entities for which the responsible genes could be localized on the X chromosome has increased from year to year; at …
X-linked mental retardation has recently become one of the most interesting genetic anomalies. ...Since the early 1980s, the n …
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB, Mogensen M, Horn N. Møller LB, et al. Biochimie. 2009 Oct;91(10):1273-7. doi: 10.1016/j.biochi.2009.05.011. Epub 2009 Jun 6. Biochimie. 2009. PMID: 19501626 Review.
Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, encoding a copper-transporting P1B-type ATPase. ...
Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, …
Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu S, van Karnebeek CD. Stockler-Ipsiroglu S, et al. Semin Neurol. 2014 Jul;34(3):350-6. doi: 10.1055/s-0034-1386772. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192512 Review.
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and …
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatin …
Moya moya vasculopathy and MECP2 duplication syndrome.
Holover G, Adams D, Milligan D, Goldberg R, Rios J, Kornitzer J, Mazzola C. Holover G, et al. Childs Nerv Syst. 2024 Mar;40(3):809-812. doi: 10.1007/s00381-023-06139-0. Epub 2023 Oct 7. Childs Nerv Syst. 2024. PMID: 37804337 Review.
MECP2 duplication syndrome (MDS) is a rare genetic disorder that is caused by genetic duplications on Xq28 chromosome (Expanding the clinical picture of the MECP2 duplication syndrome. (Lim et al. in Clin Genet 91(4):557-563, 2017). Both disorders are rare and have not bee …
MECP2 duplication syndrome (MDS) is a rare genetic disorder that is caused by genetic duplications on Xq28 chromosome (Expanding the clinica …
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA. Muenzer J, et al. Acta Paediatr Suppl. 2002;91(439):98-9. doi: 10.1111/j.1651-2227.2002.tb03115.x. Acta Paediatr Suppl. 2002. PMID: 12572850 Review.
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked disease caused by a deficiency of the enzyme iduronate-2-sulphatase (IDS), which results in the lysosomal accumulation of glycosaminoglycans (GAG). ...
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked disease caused by a deficiency of the enzyme iduronate- …