Zobrazeno 1 - 10
of 140
pro vyhledávání: '"McKinlay Gardner"'
Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little ov
Autor:
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M. Tankard, Claire Ewenczyk, Kayli C. Davies, Patricia Lino‐Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan R. E. Ansell, Ivo van der Stelt, Katherine B. Howell, Marie Coutelier, David J. Amor, Emeline Mundwiller, Lena Guillot‐Noël, Elsdon Storey, R. J. McKinlay Gardner, Mathew J. Wallis, Alfredo Brusco, Olga Corti, Agnès Rötig, Richard J. Leventer, Alexis Brice, Martin B. Delatycki, Giovanni Stevanin, Paul J. Lockhart, Alexandra Durr
Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the SCA25 locus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6371cb122ce41e675c28e9f8115847d5
http://hdl.handle.net/2318/1854166
http://hdl.handle.net/2318/1854166
Publikováno v:
Alzheimer Disease & Associated Disorders. 35:350-352
We report a case of familial dementia having some clinical features characteristic of dementia with Lewy bodies, in which a novel mutation Ala275Ser within the presenilin-1 (PSEN1) gene was identified. We review the association of PSEN1 mutation with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6eeea5eddb3bf45b6d0b26de928561
https://doi.org/10.1097/wad.0000000000000444
https://doi.org/10.1097/wad.0000000000000444
Autor:
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton
Publikováno v:
PLoS Genetics, Vol 3, Iss 6, p e108 (2007)
We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the s
Externí odkaz:
https://doaj.org/article/c07c3fcc18404aefa53f46f3f49c9ec0
Publikováno v:
Clinical Anatomy. 29:540-546
Chromosome abnormalities may cast light on the nature of mechanisms whereby normal anatomy evolves, and abnormal anatomy arises. Correlating genotype to phenotype is an exercise in which the geneticist and the anatomist can collaborate. The increasin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12ffdb7eb149cb1b64ec4ea2f376f9b6
https://doi.org/10.1002/ca.22714
https://doi.org/10.1002/ca.22714
Autor:
Elise Ruark, Andrea H. Németh, Rob L. M. van Montfort, Jennifer Campbell, Isaac M. Westwood, Anna Elliott, Shelagh Joss, Katrina Tatton-Brown, Chey Loveday, Nazneen Rahman, Anna Zachariou, Emma Ramsay, McKinlay Gardner, Anthony Renwick, Matthew Clarke
Publikováno v:
Human Molecular Genetics
Overgrowth syndromes comprise a group of heterogeneous disorders characterised by excessive growth parameters, often in association with intellectual disability. To identify new causes of human overgrowth, we have been undertaking trio-based exome se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3c8b89221f37f413f7967836a95ba2e
https://pubmed.ncbi.nlm.nih.gov/25972378
https://pubmed.ncbi.nlm.nih.gov/25972378
Autor:
R. J McKinlay Gardner, David J Amor
Insertions are a type of translocation, and indeed they are sometimes referred to as “insertional translocation,” “interstitial translocation,” or “nonreciprocal translocation.” Here, a segment of one chromosome is removed and inserted wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c32f0d32f97d9d69a1bb875ad709d679
https://doi.org/10.1093/med/9780199329007.003.0008
https://doi.org/10.1093/med/9780199329007.003.0008
Autor:
R. J McKinlay Gardner, David J. Amor
Publikováno v:
Oxford Medicine
To deal intelligently with common questions from “chromosomal families,” counselors need a broad knowledge of how gametes form, how chromosomes behave, and how the early conceptus grows. This chapter describes the ways in which chromosomes are tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5620892d6df87369173b42fd827f4576
https://doi.org/10.1093/med/9780199329007.003.0003
https://doi.org/10.1093/med/9780199329007.003.0003
Autor:
R. J McKinlay Gardner, David J. Amor
Publikováno v:
Oxford Medicine
The sex chromosomes (gonosomes) are different, and sex chromosome translocations need to be considered separately from translocations between autosomes. A sex chromosome can engage in translocation with an autosome, with the other sex chromosome, or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f85af965935666b1976454dba0862c7e
https://doi.org/10.1093/med/9780199329007.003.0006
https://doi.org/10.1093/med/9780199329007.003.0006
Autor:
R. J McKinlay Gardner, David J. Amor
Publikováno v:
Oxford Medicine
This chapter is a compendium of what is known about the susceptibility, or resistance, of the gonad to agents that might seem candidates for possibly causing damage, and with particular reference to chromosomal status of gametes. A main focus is on c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dee2964c1b44f5a8c8952ab64c0fcc16
https://doi.org/10.1093/med/9780199329007.003.0024
https://doi.org/10.1093/med/9780199329007.003.0024