Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Elizabeth Dykens"'
2
No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome
Autor: Joan Overhauser, E I Johnson, R C Marinescu, R M Hodapp, Elizabeth Dykens
Publikováno v: American Journal of Medical Genetics. 86:66-70
Molecular cytogenetic and developmental assessment was performed on 50 individuals with cri-du-chat syndrome. Fluorescent in situ hybridization analysis was used to confirm a terminal deletion karyotype and map more precisely the location of the dele
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9d76bed7888478db67edccf3c3cb0703
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<66::aid-ajmg13>3.0.co
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5
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2)
Autor: Frank Greenberg, Elizabeth Dykens, Ann C.M. Smith
Publikováno v: American journal of medical genetics. 81(2)
Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Although the physical and molecular genetic features of SMS are increasin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52395d2194dac2780949377bab823469
https://pubmed.ncbi.nlm.nih.gov/9613860
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6
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
Autor: Frank Greenberg, Elizabeth Dykens, Ann C.M. Smith
Publikováno v: American journal of medical genetics. 81(2)
Smith-Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. The phenotype of SMS has been well described and inclu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ab51a70c5d17e99eed9ae5f29cc336
https://pubmed.ncbi.nlm.nih.gov/9613859
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7
An evaluation of the Autism Behavior Checklist
Autor: Donald J. Cohen, James F. Leckman, Sara S. Sparrow, Elizabeth Dykens, Domenic V. Cicchetti, Fred R. Volkmar
Publikováno v: Journal of autism and developmental disorders. 18(1)
The Autism Behavior Checklist (ABC), an assessment instrument for autistic individuals, was evaluated in a group of 157 subjects, 94 clinically autistic and 63 nonautistic. The two groups differed significantly in ratings of pathology. Both false pos
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ba74a823023e0a32e7efde4be8a078
https://pubmed.ncbi.nlm.nih.gov/3372461
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8
A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism
Autor: W. Roy Breg, Rhea Paul, Donald J. Cohen, Elizabeth Dykens, Michael S. Watson, James F. Leckman
Publikováno v: Journal of autism and developmental disorders. 17(4)
Fragile X syndrome is a recently identified form of mental retardation that is associated with a chromosomal abnormality and inherited in an X-linked manner. Previous studies have suggested that distinctive speech and language characteristics are ass
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::910e3844f3ac6cc2c1340bac4786a76a
https://pubmed.ncbi.nlm.nih.gov/3479423
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