A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism (original) (raw)
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
C. Vincent-delorme, Véronique David, Sylvie Jaillard
European Journal of Medical Genetics, 2011
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Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms
Stylianos Antonarakis
European Journal of Medical Genetics, 2009
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A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features
A. Kurg
European Journal of Medical Genetics, 2012
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Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases
Valeria Politi
European Journal of Medical Genetics, 2008
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Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?
Arthur Brothman
American Journal of Medical Genetics Part A, 2008
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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Monica Varela
Nature Genetics, 2006
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A 580kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation
Marianne Stef, Laurence Taine
European Journal of Medical Genetics, 2008
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Kelly Li
Nature Genetics, 2008
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Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Birgit Sikkema-raddatz, Carlos Bacino, Lorraine Potocki
European Journal of Human Genetics, 2010
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Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH
Barbara McGillivray
American Journal of Medical Genetics, 2004
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Genomic imbalances in mental retardation
Kerstin Hansson
Journal of Medical Genetics, 2004
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A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
Morten Duno
European Journal of Medical Genetics, 2007
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Anita Rauch, Sue Price
Journal of Medical Genetics, 2008
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Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability
Mohammad-sadegh Fallah
Journal of Genetics, 2016
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Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
Eiko Hidaka, Keiko Wakui
Journal of Human Genetics, 2002
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A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability
Mitesh Shetty
Gene Reports, 2018
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Autistic and dysmorphic features associated with a submicroscopic 2q33.3–q34 interstitial deletion detected by array comparative genomic hybridization
Linda Cooley
American Journal of Medical Genetics Part A, 2008
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A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability
Maria Tzetis
Balkan Journal of Medical Genetics, 2018
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
Marwan Shinawi
Journal of Medical Genetics, 2009
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