Výsledky vyhledávání - "W S, Winship"

The Dyggve-Melchior-Clausen syndrome in Indian siblings

Autor: D. L. Rubin, W. S. Winship

Publikováno v: Clinical Genetics. 42:240-245

The clinical and radiographic features of a brother and sister with the Dyggve-Melchior-Clausen syndrome are presented. These features differentiate this syndrome from other bone dysplasias causing short trunk dwarfism. In addition to the vertebral,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffd3ac5731e7b937dc7d5bafd58fa5c
https://doi.org/10.1111/j.1399-0004.1992.tb03248.x

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Pigmentary abnormalities in trisomy of chromosome 13

Autor: W S Winship, Pratistadevi K. Ramdial, Thillagavathie Pillay

Publikováno v: Clinical Dysmorphology. 7:191-194

This paper documents an unusual pigmentary mosaicism in a patient with translocation trisomy of chromosome 13. The dermatological lesions include: (1) broad hypopigmented bands following the typical description of Blaschko's lines on the dorsal aspec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182188a0198be35862430abfad059ef9
https://doi.org/10.1097/00019605-199807000-00006

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Genetic disorders in the Indian community of South Africa

Autor: W S, Winship, P, Beighton

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 101(7)

To determine the range of genetic disorders in the Indian population of South Africa, assess relevant historical and demographical factors, and discuss the implications for medical and genetic care.WSW reviewed the archived data pertaining to patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ffe755336dfbc4a89a6e75f69689cee8
https://pubmed.ncbi.nlm.nih.gov/21920103

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Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

Autor: Cristina Tufarelli, Micheala A. Aldred, Richard C. Trembath, W. S. Winship, Esther Kinning

Publikováno v: Journal of medical genetics. 42(12)

Background: Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation. Direct sequencing of genomic DNA has identified causative mutations in the gene Dymeclin (chromosome 18q12–21)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc7e8c5147dd4cb415e45a6a381075fa
https://pubmed.ncbi.nlm.nih.gov/16326827

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Prader-Willi syndrome in South African patients--clinical and molecular diagnosis

Autor: A L, Christianson, D L, Viljoen, W S, Winship, M, de la Rey, E J, van Rensburg

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 88(6)

To assess clinically South African patients with the putative diagnosis of Prader-Willi syndrome (PWS) and confirm this diagnosis by DNA/molecular analysis.Prospective, nationally based, combined clinical and laboratory study.Thirty-seven patients wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e00954b72508dae55b92c8758601277
https://pubmed.ncbi.nlm.nih.gov/9687849

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Witness for the prosecution

Autor: W S, Winship, J A, Key, M E, Dawes

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 81(10)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5193bbf6ae86fc74dd61c872b9d72e6f
https://pubmed.ncbi.nlm.nih.gov/1585216

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Prenatal ultrasonographic diagnosis and successful management of mediastinal teratoma. A case report

Autor: H R, Dumbell, A C, Coleman, J M, Pudifin, W S, Winship

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 78(8)

A case of mediastinal teratoma, diagnosed in utero by realtime ultrasonography during a late 3rd trimester evaluation of polyhydramnios, is described. Prompt respiratory assistance to the infant at birth and early surgical intervention led to a succe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bf6889d25e98daaeb789d8aa3be7bc74
https://pubmed.ncbi.nlm.nih.gov/2218787

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Mitral valve replacement with mounted aortic valve homografts

Autor: M. A. Rogers, R. J. Chambers, W. S. Winship, Mervyn S. Gotsman

Publikováno v: Thorax. 27:304-311

The clinical results of isolated mitral valve replacement with mounted aortic valve homografts undertaken in 29 patients is presented. In 15 of these patients haemodynamic evaluations were made before and after operation. The results attest to the ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49f6cea69ccddd0e075a15ff2bb62cd
https://doi.org/10.1136/thx.27.3.304

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Letter: Metoclopramide therapy following Ramstedt pyloromyotomy

Autor: D, Nuss, W S, Winship

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 49(47)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::036ef484ee44d43461bded2059118b85
https://pubmed.ncbi.nlm.nih.gov/1198222

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Examination of sexually abused children

Autor: W S, Winship, J A, Key, M E, Dawes, W A, Jacob

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 71(7)

The approach to the examination of sexually abused children differs from that of normal for sick children and also from that of adults who have been the victims of rape. While the physical and psychological welfare of the patient must be the prime co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0835a2f9d124620541342212d9cb4527
https://pubmed.ncbi.nlm.nih.gov/3563792

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