Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Gail C. Jackson"'
Autor:
Michael D. Briggs, D Marcus-Soekarman, Irene Stolte-Dijkstra, Jacqueline A. Taylor, Aad Verrips, Gail C. Jackson
Publikováno v:
American Journal of Medical Genetics Part A, 152A(4), 863-869. Wiley
American Journal of Medical Genetics. Part A, 152A, 4, pp. 863-9
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part A, 152A, 863-9
American Journal of Medical Genetics. Part A, 152A(4), 863-869. Wiley
American Journal of Medical Genetics. Part A, 152A, 4, pp. 863-9
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part A, 152A, 863-9
American Journal of Medical Genetics. Part A, 152A(4), 863-869. Wiley
Item does not contain fulltext Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease that is characterized by mild short stature and early onset osteoarthritis. Autosomal dominant forms are caused by mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7982c40051bbc9b30270dc99558338
https://doi.org/10.1002/ajmg.a.33240
https://doi.org/10.1002/ajmg.a.33240
Autor:
Michael Wright, Dian Donnai, Gail C. Jackson, Simon C Ramsden, Rob Elles, William G. Newman, Jacky Taylor, Michael D. Briggs, Jason Kennedy
Publikováno v:
European Journal of Human Genetics. 13:547-555
The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9397c6738e9359c9680eafed4ec76b
https://doi.org/10.1038/sj.ejhg.5201374
https://doi.org/10.1038/sj.ejhg.5201374
Autor:
Sally L. Cotterill, Michael D. Briggs, Raimund Wagener, William G. Cole, Matthew Leighton, Gail C. Jackson, Outi Mäkitie
Publikováno v:
Human Mutation
Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1144ce661e4f9888383e946fe2e43b5e
https://doi.org/10.1002/humu.20263
https://doi.org/10.1002/humu.20263
Autor:
Malwina Czarny-Ratacjzak, Eveliina Jakkula, Michael D. Briggs, Rita Damignani, Outi Mäkitie, William G. Cole, Leena Ala-Kokko, Gail C. Jackson, Miki Susic
Publikováno v:
European Journal of Human Genetics. 13:292-301
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia. Mutations in six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3 and DTDST) have been reported, but the genotype-phenotype correlations and the proportions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48cbc7144bfffae5bed5212973f67b5
https://doi.org/10.1038/sj.ejhg.5201314
https://doi.org/10.1038/sj.ejhg.5201314
Autor:
Alistair J. Wallace, Leena Ala-Kokko, Outi Mäkitie, Malwina Czarny-Ratajczak, William G. Cole, Michael Wright, Clair Baldock, Geert Mortier, Gail C. Jackson, Mohnish Suri, Briggs, Sarah F. Smithson, Eveliina Jakkula, Piotr Rogala, Rob Elles, FS Barker
Publikováno v:
Journal of Medical Genetics. 41:52-59
Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia in which the hip and knee joints are most frequently affected. Both autosomal dominant and autosomal recessive forms of MED are recognised. The mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50eb09ebd0a389dc4608488ee12bf3af
https://doi.org/10.1136/jmg.2003.011429
https://doi.org/10.1136/jmg.2003.011429
Autor:
Leena Ala-Kokko, Outi Mäkitie, Margarida Freund, Michael D. Briggs, Malwina Czarny-Ratajczak, Michael Wright, Eveliina Jakkula, Piotr Rogala, William G. Cole, Mohnish Suri, Geert Mortier, Gail C. Jackson
Publikováno v:
American Journal of Medical Genetics Part A. :278-284
Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have identified disease-causing mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16ce39c58dd270883d015ff1ec313faf
https://doi.org/10.1002/ajmg.a.20486
https://doi.org/10.1002/ajmg.a.20486
Autor:
Ravi Savarirayan, Simon C Ramsden, Andreas Zankl, J. Spranger, Lauréane Mittaz-Crettol, Gail C. Jackson, Michael D. Briggs, Andrea Superti-Furga, Geert Mortier, Gen Nishimura, Michael Wright, Rob Elles, Jacqueline A. Taylor, Bernhard Zabel, Amaka C. Offiah, Luisa Bonafé, Valérie Cormier-Daire, Martine Le Merrer, Sheila Unger, Christine Hall
Publikováno v:
Human Mutation, vol. 33, no. 1, pp. 144-157
Human Mutation
Human mutation
Human Mutation
Human mutation
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED(AD-MED) results f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc774b9c7ec6cbbc019a98888ca9d783
https://serval.unil.ch/notice/serval:BIB_FDC8AEBBF369
https://serval.unil.ch/notice/serval:BIB_FDC8AEBBF369
Autor:
Baki Yagci, Gail C. Jackson, Savas Solak, N. Lale Satiroglu-Tufan, A. Cevik Tufan, C. Nur Semerci
Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ec15e0fe4d7ebc5f3483a20f56e1de
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/4146
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/4146
Autor:
Martine Le Merrer, Luisa Bonafé, Jacky Taylor, Rob Elles, Andrea Superti-Furga, Christine Hall, Sheila Unger, Bernhard Zabel, Michael D. Briggs, Valérie Cormier-Daire, Jürgen W. Spranger, Laureane Mittaz Crettol, Michael Wright, Geert Mortier, Gail C. Jackson, Andreas Zankl
Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93482c961f8618405eb029e8ff6a6a43
https://europepmc.org/articles/PMC2670452/
https://europepmc.org/articles/PMC2670452/
Publikováno v:
American journal of medical genetics. Part A. (1)
Pseudoachondroplasia (PA) is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, irregular epi-metaphyseal ossification, and vertebral anomalies that regress with age. It usually m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87d790f01da0ba01f9c337c98040c3c
https://pubmed.ncbi.nlm.nih.gov/15551305
https://pubmed.ncbi.nlm.nih.gov/15551305