Zobrazeno 1 - 8
of 8
pro vyhledávání: '"J. E. Riddle"'
Autor:
Randi J Hagerman, William E. Sobesky, J. E. Riddle, Annette K. Taylor, Hieu X. Tran, Scott A. Merenstein
Publikováno v:
American Journal of Medical Genetics. 64:388-394
Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca9ce8634856147c57a9150e0ef05f5c
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<388::aid-ajmg31>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<388::aid-ajmg31>3.0.co
Autor:
William E. Sobesky, Loisa Bennetto, Annette K. Taylor, Deborah Porter, Bruce F. Pennington, J. E. Riddle, Randi J Hagerman
Publikováno v:
American Journal of Medical Genetics. 64:340-345
Females who are affected by fragile X syndrome (FXS) can have significant physical, neuropsychological and emotional involvement. This study was designed to explore the relationships between these three domains and to learn how the degree of involvem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc9f0c040f999bf776d0d9ae2fd66e16
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<340::aid-ajmg21>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<340::aid-ajmg21>3.0.co
Autor:
Dennis W. Luckey, Cara Wright-Talamante, Annette K. Taylor, Asma Cheema, Randi J Hagerman, J. E. Riddle
Publikováno v:
American Journal of Medical Genetics. 64:350-355
The aim is this study is to compare the longitudinal changes in IQ scores of females and males with fragile X syndrome and controls and to assess the impact on IQ of molecular variations of the FMR-1 gene in males. Medical records from the child deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6790468049ffb17b4b9cf1af7ace9704
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<350::aid-ajmg23>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<350::aid-ajmg23>3.0.co
Autor:
J E, Riddle, A, Cheema, W E, Sobesky, S C, Gardner, A K, Taylor, B F, Pennington, R J, Hagerman
Publikováno v:
American journal of mental retardation : AJMR. 102(6)
Fragile X syndrome is the most common from of inherited mental retardation. Approximately half of females with the full mutation have significant cognitive deficits, whereas females with the premutation do not. Phenotypic effects seen in 281 females
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8b8096d97504fd07aae6c9144e409eb
https://pubmed.ncbi.nlm.nih.gov/9606468
https://pubmed.ncbi.nlm.nih.gov/9606468
Publikováno v:
American journal of medical genetics. 64(2)
The aim is this study is to compare the longitudinal changes in IQ scores of females and males with fragile X syndrome and controls and to assess the impact on IQ of molecular variations of the FMR-1 gene in males. Medical records from the child deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::78e9698dddff707dfe10d9905938e3b3
https://pubmed.ncbi.nlm.nih.gov/8844079
https://pubmed.ncbi.nlm.nih.gov/8844079
Publikováno v:
American journal of medical genetics. 64(2)
Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5cbcc031da3e8bb0ed32f010f9e23dd2
https://pubmed.ncbi.nlm.nih.gov/8844089
https://pubmed.ncbi.nlm.nih.gov/8844089
Autor:
A. Cheema, Randi J Hagerman, J. E. Riddle, S. C. Gardner, W. E. Sobesky, Bruce F. Pennington, Annette K. Taylor
Publikováno v:
American Journal on Mental Retardation. 102:590
Fragile X syndrome is the most common form of inherited mental retardation. Approximately half of females with the full mutation have significant cognitive deficits, whereas females with the premutation do not. Phenotypic effects seen in 281 females
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c53135213cf226badb907b64d4c9f14
https://doi.org/10.1352/0895-8017(1998)102<0590:piifwt>2.0.co
https://doi.org/10.1352/0895-8017(1998)102<0590:piifwt>2.0.co
Autor:
Vincent L. Wilson, Claire E. Hull, Louise W. Staley, J. E. Riddle, Karen Snow, Rebecca O'Connor, Loris McGavran, Michèle M.M. Mazzocco, Stephen N. Thibodeau, Randi J Hagerman, Debra L. Weiner, Annette K. Taylor
Publikováno v:
Archives of Pediatrics & Adolescent Medicine. 147:723
• Introduction. —Fragile X syndrome is the most commonly known inherited form of mental retardation. The intellectual abilities range from a normal IQ with learning disabilities to severe mental retardation. In males, there is a tendency for IQ d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8898e65d05640c23ef5932f214d6fd99
https://doi.org/10.1001/archpedi.1993.02160310025011
https://doi.org/10.1001/archpedi.1993.02160310025011