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Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
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In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013)
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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
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In: PubMed ; http://www.ncbi.nlm.nih.gov/pubmed/ (2012)
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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-02128729 ; Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩ (2010)
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Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
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Smith, M; Woodroffe, A; Smith, R; Holguin, S; Martinez, J; Filipek, PA; Modahl, C; Moore, B; Bocian, ME; Mays, L; Laulhere, T; Flodman, P; Spence, MA
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In: Cytogenetic and genome research, vol 98, iss 4 (2002)
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Abstract:
In a sporadic case of autism and language deficit due to auditory processing defects, molecular genetic studies revealed that a chromosomal deletion occurred in the 13q12-->q13 region. No chromosome abnormalities were detected in the parents. We determined that the deletion occurred on the paternally derived chromosome 13. There are two previous reports of chromosome 13 abnormalities in patients with autism. The deletion in the subject described in this paper maps between the two chromosome 13 linkage peaks described by Bradford et al. (2001) in studies of subjects with autism and language deficits. The 9-Mb region deleted in the patient described here contains at least four genes that are expressed in brain and that play a role in brain development. They are NBEA, MAB21L1, DCAMKL1 and MADH9. These genes therefore represent candidate genes for autism and specific language deficits.
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Keyword:
article; auditory processing disorder; autism; Autistic Disorder; brain; brain development; calmodulin kinase; case report; Child; chromosome 13; chromosome 13q; chromosome aberration; Chromosome Aberrations; chromosome deletion 13; chromosome map; Chromosome Mapping; Chromosomes; doublecortin; Fluorescence; fluorescence in situ hybridization; Genetic Linkage; genetics; Genetics & Heredity; hearing disorder; Hearing Disorders; Human; human cell; Humans; In Situ Hybridization; language disability; Language Disorders; Linkage; Male; molecular genetics; nerve protein; neuron specific protein kinase A anchor protein; Pair 13; Preschool; preschool child; priority journal; protein; protein expression; Smad protein; Speech Perception; unclassified drug
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URL: https://escholarship.org/uc/item/6c91025h
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The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2000)
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A balanced t(10;15) translocation in a male patient with developmental language disorder.
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