Zobrazeno 1 - 10
of 30
pro vyhledávání: '"John T. Martsolf"'
Publikováno v:
Clinical Genetics. 33:356-359
Partial trisomy 6p with duplications ranging from 6p21 to 6p25–pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23–pter) and deletion of 2q37–qter. Features characteristic of 6p partial trisomy present in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232659dc057c237c1faf4bb115750008
https://doi.org/10.1111/j.1399-0004.1988.tb03462.x
https://doi.org/10.1111/j.1399-0004.1988.tb03462.x
Publikováno v:
Journal of Intellectual Disability Research. 34:205-210
A case report of a 33-year-old woman wich atypical bipolar disorder, autistic disorder, profound mental retardation and a chromosomal anomaly is presented. This patient is behaviourally similar to a patient reported by Akuffo et al. (1986), who appar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5a18ae0ed99f94ba0a9b7ac05650530
https://doi.org/10.1111/j.1365-2788.1990.tb01530.x
https://doi.org/10.1111/j.1365-2788.1990.tb01530.x
Publikováno v:
Addiction Biology. 9:179-186
We compared the rate of all-cause mortality in siblings of children diagnosed with fetal alcohol syndrome (FAS) with the siblings of matched controls. The siblings of children with FAS had increased mortality (11.4%) compared with matched controls (2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09797ace0314806d0aaa18d04e3ca01e
https://doi.org/10.1080/13556210410001717088
https://doi.org/10.1080/13556210410001717088
Publikováno v:
Neurotoxicology and Teratology. 25:681-688
Fetal alcohol syndrome (FAS) is a common cause of developmental disability, neuropsychiatric impairment and birth defects. The disorder is identified by the presence of growth impairment, central nervous system dysfunction, and a characteristic patte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d368f20acac4bac94982cee03469ae
https://doi.org/10.1016/j.ntt.2003.07.020
https://doi.org/10.1016/j.ntt.2003.07.020
Publikováno v:
Neurotoxicology and Teratology. 25:707-717
The prevalence and magnitude of effect of individual risk markers for specific developmental disorders vary widely across diagnostic category. The four study cohorts for this project were patients from four diagnostic registries in North Dakota for f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88fa8addaecb6326ed1bda4a110971a
https://doi.org/10.1016/j.ntt.2003.07.018
https://doi.org/10.1016/j.ntt.2003.07.018
Publikováno v:
Neurotoxicology and Teratology. 25:689-696
Introduction: Prenatal alcohol exposure is an important cause of growth impairment. In this study we examined the stability of the growth measurements, including height, weight, and body mass index (BMI) percentiles, from birth to age at the time of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::687683af24ca2fa0f34111eea5784958
https://doi.org/10.1016/j.ntt.2003.07.017
https://doi.org/10.1016/j.ntt.2003.07.017
Publikováno v:
jpme. 26:263-269
UNLABELLED Alcohol is the most common identifiable teratogenic cause of mental retardation in North America. Fetal Alcohol Syndrome (FAS) is a major public health problem, which is frequently under diagnosed by physicians. OBJECTIVE To identify and q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b31c68eae2fc897dea8b696709d7c47
https://doi.org/10.1515/jpme.1998.26.4.263
https://doi.org/10.1515/jpme.1998.26.4.263
Autor:
Urvashi Surti, Elizabeth McPherson, John T. Martsolf, Michele Clemens, Patricia Mowery-Rushton, John G. Rogers
Publikováno v:
American Journal of Medical Genetics. 66:95-100
Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::757689e54f06f98ab694b8df60fe7281
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<95::aid-ajmg26>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<95::aid-ajmg26>3.0.co
Autor:
Marilyn G. Klug, Larry Burd, Jacob Kerbeshian, Betty A. Poitra, Mary Ebertowski, John T. Martsolf, Tom Wentz, Chaun Cox
Publikováno v:
Addiction biology. 4(3)
Fetal alcohol syndrome (FAS) is an important cause of mental retardation and developmental disabilities. A population based screening tool would allow for early diagnosis and entry into intervention programs. The aim of the study was to develop a bri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8885a00df48847ff99ac5de35c002040
https://pubmed.ncbi.nlm.nih.gov/20575800
https://pubmed.ncbi.nlm.nih.gov/20575800
Publikováno v:
American Journal of Medical Genetics. 38:565-568
Service providers for children in the state of North Dakota were surveyed to determine the prevalence rate of Rett syndrome (RS). Five patients with definite RS were identified in a population of 203,801 children (98,932 girls) 0-18 years of age yiel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d613c61fad97962bc92f8fa27ed0ac
https://doi.org/10.1002/ajmg.1320380414
https://doi.org/10.1002/ajmg.1320380414