Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Mary J. Seller"'
Autor:
Richard Mott, Amarbirpal Mahal, Kirupa Sathasivam, Laura Mangiarini, Gillian P. Bates, Mary J. Seller
Six inherited neurodegenerative diseases are caused by a CAG/polyglutamine expansion, including spinal and bulbar muscular atrophy (SBMA), Huntington's disease (HD), spinocerebellar ataxia type 1 (SCA1), dentatorubral pallidoluysian atrophy (DRPLA) M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82de93d3984f5fae0e29c2cb9d98e2dc
https://ora.ox.ac.uk/objects/uuid:c03ae7c0-40b6-4e46-b00f-fd1ba5ac5595
https://ora.ox.ac.uk/objects/uuid:c03ae7c0-40b6-4e46-b00f-fd1ba5ac5595
Publikováno v:
Clinical Genetics. 35:285-288
Post-mortem examination of a 20-week fetus showed incompletely masculinised external genitalia, hypoplastic adrenal glands and minor physical stigmata suggestive of a chromosome abnormality. Gonad and skin were karyotyped and both were found to conta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3000dc99458b6988bab7b8f74bd014bb
https://doi.org/10.1111/j.1399-0004.1989.tb02945.x
https://doi.org/10.1111/j.1399-0004.1989.tb02945.x
Autor:
Mary J. Seller
Publikováno v:
Clinical Genetics. 20:74-77
Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only two of the three cardinal signs of Meckel syndrome - encephalocoele and polycystic kidneys, lacking Polydactyly. The l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1a12f142993e11ce608125c56edfd6
https://doi.org/10.1111/j.1399-0004.1981.tb01811.x
https://doi.org/10.1111/j.1399-0004.1981.tb01811.x
Autor:
Mary J. Seller
Publikováno v:
Clinical Genetics. 3:495-500
The plasma phenylalanine levels of adult and juvenile (18–22 days old) dilute mice were measured. No difference could be found between the levels of the dilute lethal mice and their normal litter-mates. However, in two dying dilute lethal mice the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c185b702076aff8214f6488838c722
https://doi.org/10.1111/j.1399-0004.1972.tb01487.x
https://doi.org/10.1111/j.1399-0004.1972.tb01487.x
Autor:
Josiane Demignon, Mary J. Seller, Raphaëlle Grifone, Christophe Houbron, Claire Niro, Ghislaine Hamard, Pascal Maire, Evelyne Souil
Publikováno v:
Development. 132:2235-2249
In mammals, Six5, Six4 and Six1 genes are co-expressed during mouse myogenesis. Six4 and Six5 single knockout (KO) mice have no developmental defects, while Six1 KO mice die at birth and show multiple organ developmental defects. We have generated Si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce25184e7f618d04e83e672be0dc1f9
https://doi.org/10.1242/dev.01773
https://doi.org/10.1242/dev.01773
Publikováno v:
Genomics. 72:213-216
The dominant optic atrophy gene (OPA1) has previously been mapped to chromosome 3q28–q29. We have now constructed a physical and transcriptional map across the OPA1 critical region between markers D3S3557 and D3S3346. It comprises 21 sequence-tagge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a27bf44ed7bbad40952470c85859eece
https://doi.org/10.1006/geno.2000.6471
https://doi.org/10.1006/geno.2000.6471
Publikováno v:
Ophthalmology. 106:123-128
Objective To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British families in which the diagnosis was confirmed by linkage analysis. Design and participants Case series; 92 subje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7585dcc5cc53ffaf7723f23d84487a02
https://doi.org/10.1016/s0161-6420(99)90013-1
https://doi.org/10.1016/s0161-6420(99)90013-1
Publikováno v:
Clinical Genetics. 36:141-143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9f658ebe06e523f5abe607e73a5bfd8
https://doi.org/10.1111/j.1399-0004.1989.tb03177.x
https://doi.org/10.1111/j.1399-0004.1989.tb03177.x
Autor:
Chandra Ward, Maria Luiza Pereria, Keir Lewis, Mary J. Seller, Anthony H. Fensom, Clive Holmes, Michael Philpot, Simon Lovestone
Publikováno v:
NeuroReport. 8:2613-2616
The carrier rates of a genetic marker for arylsulphatase A pseudodeficiency (ASA-PD) were determined in three series of patients with vascular dementia (VaD) or Alzheimer's disease (AD). In the first community-based sample, the 1524 + 95A--G mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6e5aef4c60c79641e097626a2fade3
https://doi.org/10.1097/00001756-199707280-00038
https://doi.org/10.1097/00001756-199707280-00038
Autor:
Mary J. Seller, Kulwinder S. Bnait
Publikováno v:
Reproductive Toxicology. 9:449-459
Pregnant C57BL or mutant curly tail mice were exposed to tobacco smoke in a smoking machine for 10 min, three times a day, either on the day of conception (day 0) and days 1 and 2, or on days 3, 4, and 5, or from day 0 through day 17. In the first tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099ae697236a16402fb75a42b51fba54
https://doi.org/10.1016/0890-6238(95)00037-b
https://doi.org/10.1016/0890-6238(95)00037-b