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pro vyhledávání: '"D, Donnai"'
Akademický článek
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Akademický článek
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Autor:
A, Lumaka, N, Cosemans, A, Lulebo Mampasi, G, Mubungu, N, Mvuama, T, Lubala, S, Mbuyi-Musanzayi, J, Breckpot, M, Holvoet, T, de Ravel, G, Van Buggenhout, H, Peeters, D, Donnai, L, Mutesa, A, Verloes, P, Lukusa Tshilobo, K, Devriendt
Publikováno v:
Clinical genetics. 92(2)
The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::45f4b9c32cb009d92854e7d05676f724
https://pubmed.ncbi.nlm.nih.gov/27925162
https://pubmed.ncbi.nlm.nih.gov/27925162
Autor:
S, Douzgou, E, Chervinsky, Y, Gyftodimou, S, Kitsiou-Tzeli, S, Shalev, E, Kanavakis, D, Donnai, J, Clayton-Smith
Publikováno v:
Clinical genetics. 89(1)
Dysmorphology concerns the recognition and management of rare, multiple anomaly syndromes. Genomic technologies and software for gestalt recognition will re-shape dysmorphology services. In order to reflect on a model of the service in the post-genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::65b7671f974c5bbb4ba67202f5586c9a
https://pubmed.ncbi.nlm.nih.gov/25683496
https://pubmed.ncbi.nlm.nih.gov/25683496
Autor:
D Donnai
Publikováno v:
Clinical Genetics. 61:1-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b27f6b42196ac6b786199aaa5347b460
https://doi.org/10.1034/j.1399-0004.2002.610101.x
https://doi.org/10.1034/j.1399-0004.2002.610101.x
Autor:
S, Banka, D, Lederer, V, Benoit, E, Jenkins, E, Howard, S, Bunstone, B, Kerr, S, McKee, I C, Lloyd, D, Shears, H, Stewart, S M, White, R, Savarirayan, G M S, Mancini, D, Beysen, R D, Cohn, B, Grisart, I, Maystadt, D, Donnai
Publikováno v:
Clinical genetics. 87(3)
We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX) mutations, a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the first time, germ-line missense and splice-site mutations in the gene. We demonstrate that less
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57a725bf9e2ffa9eabfd4cc4c8857e66
https://pubmed.ncbi.nlm.nih.gov/24527667
https://pubmed.ncbi.nlm.nih.gov/24527667
Autor:
M. Smith, Janet Eyre, D. Donnai, S. Kenwrick, S Miller, F. Villagra, C. B. Dobson, Gavin J. Clowry
Publikováno v:
Scopus-Elsevier
L1 cell adhesion molecule (L1CAM) gene mutations are associated with X-linked 'recessive' neurological syndromes characterized by spasticity of the legs. L1CAM knock-out mice show hypoplasia of the corticospinal tract and failure of corticospinal axo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3324e87224c7e9867c7690963c8a0f21
https://doi.org/10.1093/brain/124.12.2393
https://doi.org/10.1093/brain/124.12.2393
Autor:
Takanori Yamagata, Swaroop Aradhya, H. Stewart, Pierre Vabres, T. Jakins, David L. Nelson, Alain Israël, Gilles Courtois, Petra Kioschis, Hayley Woffendin, Arnold Munnich, A. Smahi, Michael J. Levy, T. Bardaro, Alfredo Ciccodicola, Nina S. Heiss, Teresa Esposito, Shoji Yamaoka, D. Donnai, Susan Kenwrick, Sabine M. Klauck, Annemarie Poustka, S. Heuertz, Richard A. Lewis, Stefan Wiemann, Fernando Gianfrancesco, Michele D'Urso
Publikováno v:
Nature. 405:466-472
Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, tee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62e9ef71662e156df35405ceb6b8dcf
https://doi.org/10.1038/35013114
https://doi.org/10.1038/35013114
Publikováno v:
European journal of neurology. 4(1)
A novel mutation of the SOD-1 gene which encodes the enzyme copper-zinc superoxide dismutase was identified in a family manifesting amyotrophic lateral sclerosis (ALS) in three generations. The mutation is a heterozygote point mutation in exon 4, cod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bee395e5d9691a9e596656fcaae8830
https://pubmed.ncbi.nlm.nih.gov/24283821
https://pubmed.ncbi.nlm.nih.gov/24283821