Výsledky vyhledávání - "M. L. Whiteford"

Autor: A. S. Hollman, John Tolmie, W. B. Doig, P. A. M. Raine, M. L. Whiteford

Publikováno v: Clinical Dysmorphology. 10:135-140

Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c224e6fb006cc1113fe52593c51d93
https://doi.org/10.1097/00019605-200104000-00011

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A case of Acro-renal-mandibular syndrome in an 18 week male fetus

Autor: M. L. Whiteford, W. J. A. Patrick, Edward S. Tobias, J. R. MacKenzie

Publikováno v: Clinical Dysmorphology. 10:61-64

An 18 week male fetus is described with Acro-renal-mandibular syndrome. This third reported case of the syndrome is the first known male case and extends the phenotypic spectrum that characterizes the condition.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1656864b7e452023c07f1ff8e42b6959
https://doi.org/10.1097/00019605-200101000-00013

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Holoprosencephaly in the west of Scotland 1975-1994

Autor: J L Tolmie, M L Whiteford

Publikováno v: Journal of Medical Genetics. 33:578-584

Cases of holoprosencephaly which occurred in the west of Scotland over the past 20 years were ascertained from genetics, paediatric, and pathology department records. Fifty cases were identified of which 17 had an underlying cytogenetic abnormality.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ffd04a0acd8be54ce38f3762b2c021b
https://doi.org/10.1136/jmg.33.7.578

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Outcome of Burkholderia (Pseudomonas) cepacia colonisation in children with cystic fibrosis following a hospital outbreak

Autor: J R Michie, J D Wilkinson, Thomas J. Evans, M L Whiteford, James Y. Paton, F M Conlon, John H. McColl

Publikováno v: Thorax. 50:1194-1198

BACKGROUND--While there are reports on the outcome in adults and teenagers with cystic fibrosis of colonisation with Burkholderia (Pseudomonas) cepacia, there is little information in children. METHODS--In December 1991 only one of 115 children with

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https://doi.org/10.1136/thx.50.11.1194

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The regulation of membrane 125I- and 86Rb+ permeability in a virally transformed cell line (NCL-SG3) derived from the human sweat gland epithelium

Autor: John D. Pediani, Douglas L. Bovell, C. M. Lee, Wing-Hung Ko, S M Wilson, G. L. Smith, Hugh Y. Elder, M. L. Whiteford

Publikováno v: Experimental Physiology. 79:445-459

We have explored the factors that may regulate membrane permeability in a cell line (NCL-SG3) derived from the human sweat gland epithelium. Ionomycin increased the rate of 125I-efflux from preloaded cells and this action appeared to be due to an inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0a103629a68d75088ea2b8f5d6cbf1b
https://doi.org/10.1113/expphysiol.1994.sp003779

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A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q

Autor: M L Whiteford, C Baird, B Donaldson, H R Davidson, S Kinmond

Editor—Carriers of paracentric chromosome inversions are usually regarded as being at low risk of having offspring with an unbalanced chromosome complement.1 2Some reports have suggested that rearrangements, such as very small interstitial deletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb7b908efb1f449d96b2f19024d58f14
https://europepmc.org/articles/PMC1734668/

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Towards earlier diagnosis of 22q11 deletions

Autor: John Tolmie, Norma Morrison, M. L. Whiteford, Edward S. Tobias

Publikováno v: Archives of disease in childhood. 81(6)

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise

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https://pubmed.ncbi.nlm.nih.gov/10569971

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Aetiopathology and genetic basis of neonatal diabetes

Autor: M L Whiteford, R.S. James, R. J. Gardner, Julian P.H. Shield, J. D. Baum, Emma Jane Kirsty Wadsworth, I K Temple, David O. Robinson

Publikováno v: ResearcherID

A British Paediatric Association Surveillance Unit* study of neonatal diabetes determined a national incidence of 1 in 400 000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthwe

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https://europepmc.org/articles/PMC1720618/

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Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease

Autor: G. Lowther, J. I. Vaughan, G. E. Moore, M. L. Whiteford, L. Al-Roomi, John Tolmie, A. Mather, J. Coutts, A. Cooke

Publikováno v: Prenatal diagnosis. 15(6)

We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased D

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https://pubmed.ncbi.nlm.nih.gov/7659692

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