Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Rebecca C. Pollitt"'
Autor:
Rory O'Sullivan, Mary Bull, Nicola Fa Peel, Paul Roschger, Rebecca Jones, Nick Bishop, Elizabeth Milne, Meena Balasubramanian, Klaus Klaushofer, Kath Smith, Nadja Fratzl-Zelman, Rebecca C. Pollitt
Publikováno v:
American Journal of Medical Genetics Part A. 176:1578-1586
BACKGROUND: Idiopathic Juvenile Osteoporosis (IJO) refers to significantly lower than expected bone mass manifesting in childhood with no identifiable aetiology. IJO classically presents in early pubertal period with multiple fractures including meta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5245bb1ffbfa3f2afe9e693638e17369
https://doi.org/10.1002/ajmg.a.38830
https://doi.org/10.1002/ajmg.a.38830
Autor:
Rebecca C. Pollitt, Raja Padidela, David J. Stephens, Janine McCaughey, M Zulf Mughal, Nick Bishop, Bart E. Wagner, Amaka C. Offiah, Meena Balasubramanian
Publikováno v:
Balasubramanian, M, Padidela, R, Pollitt, R C, Bishop, N J, Mughal, M Z, Offiah, A C, Wagner, B E, McCaughey, J & Stephens, D J 2017, ' P4HB recurrent missense mutation causing Cole-Carpenter syndrome ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2017-104899
BackgroundCole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b67364bd9e9431813d5dddc64d7a4d1
https://doi.org/10.1136/jmedgenet-2017-104899
https://doi.org/10.1136/jmedgenet-2017-104899
Autor:
Nick Bishop, Wolfgang Högler, Ann Dalton, M Zulf Mughal, Farhan Ali, Emma Hobson, Glenda Sobey, Meena Balasubramanian, Vrinda Saraff, Emma A Webb, Paul Arundel, Rebecca C. Pollitt, Nick Shaw
Publikováno v:
American Journal of Medical Genetics Part A. 170:3150-3156
Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes. Autosomal recessive mutations in a number of genes have also been described, including the B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d129c26902eac8f679994bc33a4a2c5
https://doi.org/10.1002/ajmg.a.37958
https://doi.org/10.1002/ajmg.a.37958
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-4 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective forma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28d10822ec81f011ca2b4ec72bc495a
Autor:
Adnan Y. Manzur, Jacek Pilch, Neeti Ghali, Jahannaz Dastgir, Diana Johnson, Cecilia Giunta, Nayana Lahiri, Anthony Vandersteen, Uschi Lindert, Christine Fauth, Angela F. Brady, Rebecca C. Pollitt, Bernarda Lozić, Gudrun Schreiber, Ebtesam M. Abdalla, Nora Shannon, Martina Witsch-Baumgartner, Glenda Sobey, Ariana Kariminejad, F. Michael Pope, James J. Collins, Marianne Rohrbach, Jenny Morton, Sandra Donkervoort, Johannes Koch, Johannes Zschocke, Fleur S van Dijk, Carsten G. Bönnemann, Marius E. Kraenzlin, Matthias Baumann
Publikováno v:
Genetics in Medicine
Purpose\ud In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7bfeb67d6143c933e1cc7fd8aeffb9
https://www.zora.uzh.ch/id/eprint/145773/
https://www.zora.uzh.ch/id/eprint/145773/
Autor:
Neeti Ghali, David J.S. Hulmes, Frances Elmslie, Anthony Vandersteen, Philip Sawle, Simon T. Holden, Alex Henderson, Natasha S. Stembridge, F. Michael Pope, Mandy Nesbitt, Rebecca C. Pollitt, David J. P. Ferguson
Publikováno v:
American Journal of Medical Genetics Part A. 167:1763-1772
Vascular Ehlers–Danlos syndrome (vEDS) is a heritable disorder of connective tissue caused by pathological variants in the COL3A1 gene, which encodes the α1 chain of type III collagen. Type III collagen is a major component of skin, arterial walls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2f1972466db0fbe42317d583ec8c76
https://doi.org/10.1002/ajmg.a.37081
https://doi.org/10.1002/ajmg.a.37081
Autor:
Meena Balasubramanian, Rebecca C. Pollitt, Amaka C. Offiah, M. Z. Mughal, Michael Parker, Nick Bishop, Paul Arundel, Kate Chandler, Ann Dalton
Publikováno v:
American Journal of Medical Genetics Part A. 167:587-591
In 1987, Cole and Carpenter reported two unrelated infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe osteogenesis imperfecta. In addition, these patients also had proptosis, blue sclerae, hydrocephal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd848280611fbef8201a39485606f1a2
https://doi.org/10.1002/ajmg.a.36916
https://doi.org/10.1002/ajmg.a.36916
Autor:
Timothy M. Skerry, Dasa Longman, David Hughes, Rebecca C. Pollitt, Catherine DeVile, Javier F. Cáceres, Amaka C. Offiah, Jane A. Hurst, Paul Arundel, Nick Bishop, Meena Balasubramanian
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f058931ec95f24e27f05161569d7417e
https://doi.org/10.1530/boneabs.6.oc1
https://doi.org/10.1530/boneabs.6.oc1
P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism
Autor:
Zulf Mughal, Meena Balasubramanian, Amaka C. Offiah, Raja Padidela, Nick Bishop, David J. Stephens, Rebecca C. Pollitt, Bart E. Wagner, Janine McCaughey
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61b03c7761911c4af366d76d24e74a1c
https://doi.org/10.1530/boneabs.6.lb14
https://doi.org/10.1530/boneabs.6.lb14
Autor:
Paul Arundel, Anand Saggar, Amaka C. Offiah, Sivagamy Sithambaram, Rebecca C. Pollitt, Nick Bishop, Meena Balasubramanian, Lata Shankar
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bff8e8bdc8522302065e5053c0144ef6
https://doi.org/10.1530/boneabs.6.p042
https://doi.org/10.1530/boneabs.6.p042