Výsledky vyhledávání - "Diana S. Johnson"

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

Autor: Jessica M. Bowen, Monica Hernandez, Diana S. Johnson, Claire Green, Tammy Kammin, Duncan Baker, Sylvia Keigwin, Seiko Makino, Naomi Taylor, Oliver Watson, Nigel M. Wheeldon, Glenda J. Sobey

Publikováno v: European Journal of Human Genetics.

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 connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e50f603bcfb46647fe68865cad42d372
https://doi.org/10.1038/s41431-023-01343-7

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Arterial complications in classical Ehlers-Danlos syndrome: a case series

Autor: Harveer Cheema, Hanadi Kazkaz, Angela F. Brady, Glenda Sobey, Anthony Vandersteen, Diana S. Johnson, Neeti Ghali, Kate von Klemperer, Duncan Baker, F Michael Pope, Fleur S van Dijk, Chloe Angwin

Publikováno v: Journal of Medical Genetics. 57:769-776

BackgroundThe Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vasc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f545826771053f537e3bdec4427b8a
https://doi.org/10.1136/jmedgenet-2019-106689

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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Publikováno v: Web of Science
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8
Genetics in Medicine
Genetics in Medicine, 23, 7, pp. 1202-1210
Genetics in Medicine, 23, 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8

Contains fulltext : 237823.pdf (Publisher’s version ) (Open Access) PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individua

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A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

Autor: Anna E. von Bohlen, Ralf Stücker, Ramona Pop, Gerd Scherer, Deborah J. Morris-Rosendahl, Diana S. Johnson, John Tolmie, Johann Böhm

Publikováno v: Molecular Genetics & Genomic Medicine

Background Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently hav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08a7e9e32ea946c795df5544ed07609
https://doi.org/10.1002/mgg3.282

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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Autor: Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

Publikováno v: Genetics in Medicine, 21, 2723. Lippincott Williams and Wilkins
Genetics in medicine, 21(12), 2723-2733. Lippincott Williams and Wilkins
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21(12), 2723-2733. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 2723-2733
Genetics in Medicine, 21(12), 2723-2733. Nature Publishing Group
Genetics in Medicine, 21, 12, pp. 2723-2733
Genetics in Medicine

PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9479b09188c08a5817cfef39764495
https://dspace.library.uu.nl/handle/1874/391976

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Pathogenicity and selective constraint on variation near splice sites

Publikováno v: 2019, ' Pathogenicity and selective constraint on variation near splice sites ', Genome Research . https://doi.org/10.1101/gr.238444.118

Mutations which perturb normal pre-mRNA splicing are significant contributors to human disease. We used exome sequencing data from 7,833 probands with developmental disorders (DD) and their unaffected parents, as well as >60,000 aggregated exomes fro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6f7d11a0a9cfc80ab9a7b3b54e27d0

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Autor: Alistair T, Pagnamenta, Yoshiko, Murakami, John M, Taylor, Consuelo, Anzilotti, Malcolm F, Howard, Venessa, Miller, Diana S, Johnson, Shereen, Tadros, Sahar, Mansour, I Karen, Temple, Rachel, Firth, Elisabeth, Rosser, Rachel E, Harrison, Bronwen, Kerr, Niko, Popitsch, Taroh, Kinoshita, Jenny C, Taylor, Usha, Kini

Publikováno v: European Journal of Human Genetics

Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0415a366de11e9c831316b75300cb9e4
https://pubmed.ncbi.nlm.nih.gov/28327575

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