Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Deborah, Osio"'
1
SOX5:Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum
Autor: Katharine Edgerley, Lisa Bryson, Lucy Hanington, Rachel Irving, Shelagh Joss, Anne Lampe, Isabelle Maystadt, Deborah Osio, Ruth Richardson, Miranda Split, Francis H. Sansbury, Ingrid Scurr, Helen Stewart, Alisdair McNeil, Karen Low
Publikováno v: Edgerley, K, Bryson, L, Hanington, L, Irving, R, Joss, S, Lampe, A, Maystadt, I, Osio, D, Richardson, R, Splitt, M, Sansbury, F H, Scurr, I, Stewart, H, McNeil, A & Low, K J 2023, ' SOX5 : Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum ', American Journal of Medical Genetics, Part A, vol. 191, no. 5, pp. 1447-1458 . https://doi.org/10.1002/ajmg.a.63124
To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. C
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da6de326869a93bcfd7db6c335f8e45
https://hdl.handle.net/1983/6500363b-00e6-4b51-a3f7-a2df3113c9f4
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3
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
Autor: Gabriela Jones, Katie Johnson, Jacqueline Eason, Mark Hamilton, Deborah Osio, Farah Kanani, Julia Baptista, Mohnish Suri
Publikováno v: European journal of medical genetics. 65(10)
Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated cryst
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dafe5e6e9900e002665829d2903721a1
https://pubmed.ncbi.nlm.nih.gov/35918038
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4
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants
Autor: Nicolas Chatron, Alexandre Vasiljevic, Eudeline Alix, Audrey Putoux, Gaetan Lesca, Deborah Osio, Phillip Cox, Laurent Guibaud, Damien Sanlaville, Annie Buenerd, Audrey Labalme, Peter Marks, Sara Cabet
Publikováno v: Brain. 142:3367-3374
Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding of the cortical mantle resulting in small gyri with a fused surface. Polymicrogyria is responsible for a wide range of neurological
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5be42c6cd02cc22ed0143594e41e8ae
https://doi.org/10.1093/brain/awz272
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5
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Autor: Andrew E. Fry, Vassilis Ragoussis, Alistair T. Pagnamenta, Martin A. McClatchey, Rebecca L Haines, Julian R. Sampson, Alice Gardham, Jan-Maarten Cobben, Edoardo Giacopuzzi, Mohnish Suri, Jenny C. Taylor, Deborah Osio
Publikováno v: Journal of medical genetics. BMJ Publishing Group
Defects in tubulin beta 2A class IIa (TUBB2A) are associated with a range of complex cerebral cortex dysplasias.1 Despite several studies reporting NM_001069.3:c.743C>T p.(Ala248Val) as a recurrent pathogenic mutation,1 2 it is listed in ClinVar with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208a57a45944be11193fa841d6406d7b
https://ora.ox.ac.uk/objects/uuid:cdef1d4e-5592-49a2-a1ae-5603a8fc4c76
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8
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Autor: Lelliott C, Wendy D Jones, Helen V. Firth, Sebastian S. Gerety, Daniel A. King, Ajith Kumar, Mary O'Regan, Diana Rajan, Nicola Foulds, Judith A. Goodship, Jenny Lord, Angela F. Brady, Dominic J. McMullan, James Whitworth, Cecilia W. Lo, Morad Ansari, Emma Hobson, David R. FitzPatrick, Nadia Akawi, Jeremy F. McRae, Alejandro Sifrim, Peter D. Turnpenny, Shelagh Joss, Deborah Osio, Tomas W Fitzgerald, Caroline F. Wright, Audrey Smith, Richard Francis, Melissa Lees, Elena Prigmore, Charu Deshpande, Jeffrey C. Barrett, Trevor Cole, Stephen Clayton, Meena Balasubramanian, Nikolai Klena, Moira Blyth, George C. Gabriel, Elisabeth Rosser, Ganesh J. Swaminathan, Matthew E. Hurles, Virginia Piombo
Publikováno v: Nature genetics
Akawi, N, McRae, J, Ansari, M, Balasubramanian, M, Blyth, M, Brady, A F, Clayton, S, Cole, T, Deshpande, C, Fitzgerald, T W, Foulds, N, Francis, R, Gabriel, G, Gerety, S S, Goodship, J, Hobson, E, Jones, W D, Joss, S, King, D, Klena, N, Kumar, A, Lees, M, Lelliott, C, Lord, J, McMullan, D, O'Regan, M, Osio, D, Piombo, V, Prigmore, E, Rajan, D, Rosser, E, Sifrim, A, Smith, A, Swaminathan, G J, Turnpenny, P, Whitworth, J, Wright, C F, Firth, H V, Barrett, J C, Lo, C W & FitzPatrick, D R & Hurles, M E 2015, ' Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families ', Nature Genetics, vol. 47, no. 11, pp. 1363-1369 . https://doi.org/10.1038/ng.3410
Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c91d0a6e441a9572fcf0cadca49592
https://doi.org/10.1038/ng.3410
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9
Improved final height with long-term growth hormone treatment in Noonan syndrome
Autor: Otto Westphal, Jovanna Dahlgren, Deborah Osio, Kerstin Albertsson Wikland
Publikováno v: Acta Paediatrica. 94:1232-1237
Aim To assess whether children with Noonan syndrome on long-term growth hormone (GH) therapy improve their final height to near mid-parental height. Methods Twenty-five prepubertal children (13 girls) with Noonan syndrome (NS) were studied. A single
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce11f063354e418d4f2979803da5fb11
https://doi.org/10.1111/j.1651-2227.2005.tb02081.x
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10
Improved final height with long-term growth hormone treatment in Noonan syndrome
Autor: Deborah, Osio, Jovanna, Dahlgren, Kerstin Albertsson, Wikland, Otto, Westphal
Publikováno v: Acta paediatrica (Oslo, Norway : 1992). 94(9)
To assess whether children with Noonan syndrome on long-term growth hormone (GH) therapy improve their final height to near mid-parental height.Twenty-five prepubertal children (13 girls) with Noonan syndrome (NS) were studied. A single clinician mad
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bb49c145735bfe779a0c3cc4a4a43fd4
https://pubmed.ncbi.nlm.nih.gov/16203673
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