Search Results - "Sobey, Glenda J."

Ehlers–Danlos syndrome, classical type by Bowen, Jessica M., Sobey, Glenda J., Burrows, Nigel P., Colombi, Marina, Lavallee, Mark E., Malfait, Fransiska, Francomano, Clair A.

“…Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading…”
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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield by Bowen, Jessica M, Hernandez, Monica, Johnson, Diana S, Green, Claire, Kammin, Tammy, Baker, Duncan, Keigwin, Sylvia, Makino, Seiko, Taylor, Naomi, Watson, Oliver, Wheeldon, Nigel M, Sobey, Glenda J

“…The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited…”
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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations by Pollitt, Rebecca C., Saraff, Vrinda, Dalton, Ann, Webb, Emma A., Shaw, Nick J., Sobey, Glenda J., Mughal, M. Zulf, Hobson, Emma, Ali, Farhan, Bishop, Nicholas J., Arundel, Paul, Högler, Wolfgang, Balasubramanian, Meena

“…Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes…”
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Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study by Balasubramanian, Meena, Wagner, Bart E., Peres, Luiz C., Sobey, Glenda J., Parker, Michael J., Dalton, Ann, Arundel, Paul, Bishop, Nicholas J.

“…Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity for…”
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Mosaic Chromosome 6 Trisomy in an Epidermal Nevus by Sobey, Glenda J., Quarrell, Oliver W., Williams, Steven, McGrath, Helen M.

“…:  We report a 2‐year‐old boy with a linear epidermal nevus. Mosaicism for chromosome 6 in skin fibroblasts of affected skin was discovered. Trisomy 6 has not…”
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The 2017 international classification of the Ehlers–Danlos syndromes by Malfait, Fransiska, Francomano, Clair, Byers, Peter, Belmont, John, Berglund, Britta, Black, James, Bloom, Lara, Bowen, Jessica M., Brady, Angela F., Burrows, Nigel P., Castori, Marco, Cohen, Helen, Colombi, Marina, Demirdas, Serwet, De Backer, Julie, De Paepe, Anne, Fournel‐Gigleux, Sylvie, Frank, Michael, Ghali, Neeti, Giunta, Cecilia, Grahame, Rodney, Hakim, Alan, Jeunemaitre, Xavier, Johnson, Diana, Juul‐Kristensen, Birgit, Kapferer‐Seebacher, Ines, Kazkaz, Hanadi, Kosho, Tomoki, Lavallee, Mark E., Levy, Howard, Mendoza‐Londono, Roberto, Pepin, Melanie, Pope, F. Michael, Reinstein, Eyal, Robert, Leema, Rohrbach, Marianne, Sanders, Lynn, Sobey, Glenda J., Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Wheeldon, Nigel, Zschocke, Johannes, Tinkle, Brad

“…The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint…”
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Mosaic Chromosome 6 Trisomy in an Epidermal Nevus by Sobey, Glenda J., Quarrell, Oliver W., Williams, Steven, McGrath, Helen M.

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