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Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

Autor: Nancy Unanue, Donna M. McDonald-McGinn, Alex Habel, Michael-John McGinn, Elaine H. Zackai

Publikováno v: American Journal of Medical Genetics Part A. :2665-2671

Growth faltering occurs frequently in infancy in the 22q11 Deletion syndrome (22q11 DS). The subsequent course of growth in childhood and outcome for final adult height lacks consensus. We analyzed 5,149 growth data points from 812 Caucasian subjects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c489f56a18e228d39e7d9d1c041d4d
https://doi.org/10.1002/ajmg.a.35426

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Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion

Autor: Fergus Kane, Elias Tsakanikos, Alex Habel, Eugenia Kravariti, Jo Shearer, C. Jacobson

Publikováno v: Journal of Intellectual Disability Research. 54:701-713

Background The 22q11.2 deletion syndrome (22qDS) confers high risk for intellectual disability and neuropsychological/academic impairment, although a minority of patients show average intelligence. Intellectual heterogeneity and the high prevalence o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eff026dc72b39606ef5a2d485e025253
https://doi.org/10.1111/j.1365-2788.2010.01298.x

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Memory in intellectually matched groups of young participants with 22q11.2 deletion syndrome and those with schizophrenia

Autor: Robin G. Morris, Robin M. Murray, Sophia Frangou, Elias Tsakanikos, Eugenia Kravariti, Alex Habel, Jo Shearer, Clare Jacobson

Publikováno v: Research in Developmental Disabilities. 31:864-868

The 22q11.2 deletion syndrome (22qDS) and schizophrenia have genetic and neuropsychological similarities, but are likely to differ in memory profile. Confirming differences in memory function between the two disorders, and identifying their genetic d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c16ac42db9b1baa4d541683646f9d1d
https://doi.org/10.1016/j.ridd.2010.03.003

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