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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy
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Piero Pavone, Martino Ruggieri, Simona D Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla. - 2020
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
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In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
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In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
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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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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
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In: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 (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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Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
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1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child
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In: DTIC (2010)
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A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms.
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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 (2009)
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Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.
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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 (2008)
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Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
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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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