Zobrazeno 1 - 10 of 33 pro vyhledávání: '"D R, McLeod"'
1
A pseudoisochromosome 18q and an isodicentric chromosome 18*
Autor: D. R. McLeod, Anne Robertson, J. J. Hoo, Nancy Williamson, Cynthia Floore, Iris Samuel, G. Hoganson
Publikováno v: Clinical Genetics. 35:450-454
A case of pseudoisochromosome 18q of prezygotic origin and a case of isodicentric chromosome 18 of postzygotic origin are presented to validate the differentiation between a true isochromosome and a pseudoisochromosome. This differentiation may be us
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b843c1a130ef18b6f67b40bb3dbefb
https://doi.org/10.1111/j.1399-0004.1989.tb02971.x
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3
Dental Abnormalities in Schimke Immuno-osseous Dysplasia
Autor: Kristi Dehaai, Joel Charrow, Alireza Baradaran-Heravi, Dominique Bonneau, Helen Fryssira, Radovan Bogdanovic, C. N. Semerci, Thomas Lücke, M. S. Fenkçi, Kory Keller, Pierre Frange, D. R. Mcleod, M. Gendronneau, Salman Kirmani, David B. Lewis, Laura Massella, François Nobili, Olivia Kérourédan, Sophie Taque, Cornelius F. Boerkoel, K. Kohler, Stefan Fründ, Christine Kobelka, Martine Bonnaure-Mallet, Pierre Cochat, Jonathan Zonana, Ann Haskins Olney, Marie Morimoto, Anja Stein, Glenda Hendson, C. Shuen, David V. Milford, Natasa Stajic, Yumi Asakura, Mitra Basiratnia, Anna Buck
Publikováno v: Journal of Dental Research
Journal of Dental Research, 2012, 91 (7 Suppl), pp.29S-37S. ⟨10.1177/0022034512450299⟩
Journal of Dental Research, SAGE Publications (UK and US), 2012, 91 (7 Suppl), pp.29S-37S. ⟨10.1177/0022034512450299⟩
Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anoma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f72f995c5767ad52e77d2dacd4231c
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84867916814
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4
Metacarpophalangeal pattern profile analysis in Williams syndrome
Autor: D. R. McLeod, M A Burns, L R Linton, Merlin G. Butler
Publikováno v: American Journal of Medical Genetics. 47:471-474
Many patients with Williams syndrome (WS) are not diagnosed until they are old enough to demonstrate the characteristic personality and facial changes. A number of these changes are quite subtle and none of them is present in all affected individuals
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad96f86ba7a6477352d8e5155dbd989c
https://doi.org/10.1002/ajmg.1320470407
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5
VACTERL manifestations in two generations of a family
Autor: M.M. Nezarati, D. R. McLeod
Publikováno v: American Journal of Medical Genetics. 82:40-42
Most cases of the VACTERL “association” [Martinez-Frias et al., Am. J. Med. Genet. 76:291–296, 1998] are sporadic, with an empiric recurrence risk of 1% or less. Rare families with recurrence of VACTERL-H association are described with patterns
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a797bf998cde226caf9015901981749
https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<40::aid-ajmg8>3.0.co
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6
Chromosome 6q deletions: A report of two additional cases and a review of the literature
Autor: D. Samcoe, I. Burgess, D. R. McLeod, A. Robertson, J. J. Hoo, S. B. Fowlow
Publikováno v: American Journal of Medical Genetics. 35:79-84
Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter----q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter----q23::q25----qte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02984825d1c4dfa43b73c26b9fc9ff8a
https://doi.org/10.1002/ajmg.1320350115
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7
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co‐chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome‐like condition
Autor: D. R. McLeod, R Casey, F. F. Snyder, A Chan, P Ferreira, Jillian S. Parboosingh, Francois P. Bernier, Peter Bridge, K M Davey
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5155793489d4b33389e1edf7c48b7755
https://europepmc.org/articles/PMC2564511/
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8
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
Autor: Wendy S. Rubinstein, D R McLeod, William H. Slattery, S A Savul, Bora E. Baysal, Carrie M. Drovdlic, Robert E. Ferrell, Derald E. Brackmann, Joan E. Willett-Brozick, Elizabeth C. Lawrence, H A Yee, Eugene N. Myers
Publikováno v: Journal of medical genetics. 39(3)
Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC , and SDHD , cause hereditary paragangliom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6593bac9534cfb3645c59a8fc2b12b
https://pubmed.ncbi.nlm.nih.gov/11897817
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9
VACTERL manifestations in two generations of a family
Autor: M M, Nezarati, D R, McLeod
Publikováno v: American journal of medical genetics. 82(1)
Most cases of the VACTERL "association" [Martinez-Frias et al., Am. J. Med. Genet. 76: 291-296, 1998] are sporadic, with an empiric recurrence risk of 1% or less. Rare families with recurrence of VACTERL-H association are described with patterns cons
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::001d57841aee531be5595f51aaafe87c
https://pubmed.ncbi.nlm.nih.gov/9916841
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10
Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain
Autor: S Pitkanen, F Merante, Brian H. Robinson, D Applegarth, D R McLeod, T Tong
Publikováno v: Pediatric research. 39(3)
Four patients in one generation of a multiply consanguineous pedigree died with cardiomyopathy, cataracts, and lactic acidemia. Postmortem heart and skeletal muscle tissues from one patient were analyzed. A low (12% control) activity of NADH-CoQ redu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13a72d6004368dc3acbd9c68799d10a
https://pubmed.ncbi.nlm.nih.gov/8929874
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