Zobrazeno 1 - 10 of 83 pro vyhledávání: '"M W, Partington"'
1
Blood Serotonin Levels in Severe Mental Retardation
Autor: J. B. Tu, C. Y. Wong, M. W. Partington
Publikováno v: Developmental Medicine & Child Neurology. 15:616-627
SUMMARY Whole blood serotonin levels were measured in 83 children with severe mental retardation. Nearly 50 per cent had hyperserotoninaemia (defined as blood serotonin levels over 350ng/ml—the 90th percentile for normal children of similar age). B
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c67d15c33afa811c78d4ba703e647c
https://doi.org/10.1111/j.1469-8749.1973.tb05172.x
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2
X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome
Autor: M. W. Partington
Publikováno v: Clinical Genetics. 29:151-156
A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism. The short stature and pigmentary anomalies were more marked in the males than the females. The pattern of inheritance appeared X-li
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6912884604abee6e831a145fe3aaf281
https://doi.org/10.1111/j.1399-0004.1986.tb01240.x
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3
Rubinstein-Taybi syndrome: A follow-up study
Autor: M. W. Partington
Publikováno v: American Journal of Medical Genetics. 37:65-68
Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a7ed8cdc49b2b0303fa8c9bdd2e1616
https://doi.org/10.1002/ajmg.1320370611
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4
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome
Autor: V Soubjaki, Gillian Turner, M W Partington, K Fagan
Publikováno v: Journal of Medical Genetics. 34:719-728
Three families are reported who have a translocation involving 4p16.3. Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre- and postnatal growth failure, microcephaly, severe mental retardatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0862ca3a77fd3a5c0aa7a797e95fdf81
https://doi.org/10.1136/jmg.34.9.719
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5
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1
Autor: P. W. Colley, M. J. Edwards, J. Roberts, John C. Mulley, C. J. Challinor, G. E. Hollway, H. Kozman, M. W. Partington
Publikováno v: American Journal of Medical Genetics. 53:65-71
Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiogra
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f147e93895c4e8413120e6d7f9aacb3e
https://doi.org/10.1002/ajmg.1320530114
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7
Familial colloid cysts of the third ventricle
Autor: M W, Partington, A J, Bookalil
Publikováno v: Clinical genetics. 66(5)
A father and daughter with colloid cysts of the third ventricle are described. The nine previously reported examples of familial occurrence are reviewed, and the conclusion is reached that inheritance is likely autosomal dominant. The proportion of a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2995680744b217f82369bb5c731317e4
https://pubmed.ncbi.nlm.nih.gov/15479194
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8
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX
Autor: M W, Partington, G, Turner, J, Boyle, J, Gécz
Publikováno v: Clinical genetics. 66(1)
Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. M
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f57ae566881a407c1011a0627917bd1
https://pubmed.ncbi.nlm.nih.gov/15200506
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9
Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome
Autor: C, Rogers, M W, Partington, G M, Turner
Publikováno v: Clinical genetics. 64(1)
Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with brain atrophy in males of normal intelligence and the pre-mutation carrier state of the fragile X syndrome. We have shown, by means of a telep
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b90bb3a3b20e9bc87226b04058eb9c1
https://pubmed.ncbi.nlm.nih.gov/12791039
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10
Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families
Autor: K Fagan, M W Partington, P Donald, V Soubjaki, Gillian Turner
Publikováno v: Journal of medical genetics. 37(6)
Editor—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all affected subjects are mentally retarded, th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d03b7a2b2067f34050a8f53bf1ffa183
https://pubmed.ncbi.nlm.nih.gov/10928853
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