Zobrazeno 1 - 10
of 193
pro vyhledávání: '"G. Gyapay"'
Autor:
K Aliferis, Corinne Stoetzel, S Duchatelet, Sophie Hellé, G Gyapay, J L Mandel, Hélène Dollfus
Publikováno v:
Ophthalmic Genetics. 33:18-22
Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical overlap between Bardet-Biedl syndrome (BBS) and Alström syndrome has been described, although the two entities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208211b9653017bf17ef321c2929e981
https://doi.org/10.3109/13816810.2011.620055
https://doi.org/10.3109/13816810.2011.620055
Autor:
C. Ben Hamida, N. Doerflinger, S. Belal, C. Linder, L. Reutenauer, C. Dib, G. Gyapay, A. Vignal, D. Le Paslier, D. Cohen, M. Pandolfo, V. Mokini, G. Novelli, F. Hentati, M. Ben Hamida, J.-L. Mandel, M. Kœnig
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 1993, 5 (2), pp.195-200. ⟨10.1038/ng1093-195⟩
Nature Genetics, Nature Publishing Group, 1993, 5 (2), pp.195-200. ⟨10.1038/ng1093-195⟩
Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to our knowledge the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce001e587f53b9270450719fa1ee5256
https://doi.org/10.1038/ng1093-195
https://doi.org/10.1038/ng1093-195
Autor:
Steve Rozen, N. Chiannilkulchai, James R. Hudson, L. D. Stein, D. Muselet, James M. Sikela, Caleb Webber, Charles Auffray, M. R. James, R. Staples, B. B. Birren, M.-T. Bihoreau, Gregory D. Schuler, A. Peck, H. C. Nusbaum, C. Louis-Dit-Sully, L. Hui, Jianpeng Ma, S. Duprat, N. Nomura, N. Vega-Czarny, J. Morissette, A. B. Castle, G. Gyapay, E. Holloway, Paul Harrison, P. J. R. Day, Jacques S. Beckmann, J. Browne, A. Mendis, Eric S. Lander, Thomas J. Hudson, Richard M. Myers, Philip Lijnzaad, Donna K. Slonim, S. Bentolila, D. R. Bentley, Panos Deloukas, Mark S. Boguski, Jean Weissenbach, C. Fizames, T. Thangarajah, E. A. Stewart, Marc A. Suchard, N. Drouot, E. M. Beasley, J.H. Miller, C. Clee, S. Gelling, K. B. McKusick, R. Hocking, D. Simon, Sarah E. Hunt, P. Rodriguez-Tomé, Anindya Dehejia, D. R. Cox, Mihael H. Polymeropoulos, Carol Soderlund, Xufeng S. Wu, L. Green, S. Keil, Tara C. Matise, T. Dibling, Sidney W. Fox, Adam Butler
Publikováno v:
Science. 282:744-746
A map of 30,181 human gene–based markers was assembled and integrated with the current genetic map by radiation hybrid mapping. The new gene map contains nearly twice as many genes as the previous release, includes most genes that encode proteins o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43375193c5888bef6efc3afc6b6d25d5
https://doi.org/10.1126/science.282.5389.744
https://doi.org/10.1126/science.282.5389.744
Autor:
J.L. Haines, M. Ter-Minassian, A. Bazyk, J.F. Gusella, D.J. Kim, H. Terwedow, M.A. PericakVance, J.B. Rimmler, C.S. Haynes, A.D. Roses, A. Lee, B. Shaner, M. Menold, E. Seboun, R-P. Fitoussi, C. Gartioux, C. Reyes, F. Ribierre, G. Gyapay, J. Weissenbach, S.L. Hauser, D.E. Goodkin, R. Lincoln, K. Usuku, A. Garcia-Merino, N. Gatto, S. Young, J.R. Oksenberg
Publikováno v:
Nature Genetics. 13:469-471
Multiple sclerosis (MS), an inflammatory autoimmune demyelinating disorder of the central nervous system, is the most common cause of acquired neurological dysfunction arising in the second to fourth decades of life1,2. A genetic component to MS is i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ed77f23202aba9f84dbc3fb077075c3
https://doi.org/10.1038/ng0896-469
https://doi.org/10.1038/ng0896-469
Publikováno v:
FEBS letters. 434(3)
We have identified a cDNA encoding a 212 amino acid protein (Nm23-H5) with 27-31% identity to the human members of the nm23/nucleoside diphosphate (NDP) kinase gene family. The nm23-H5 gene is located on chromosome 5q23-31 and is transcribed as one m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b5934e03734388c5e86e547f602ee56
https://pubmed.ncbi.nlm.nih.gov/9742940
https://pubmed.ncbi.nlm.nih.gov/9742940
Autor:
Christian Dina, J. Hager, G. Gyapay, Philippe Boutin, B. Guy-Grand, Karine Clément, C. Roche, Philippe Froguel, Arnaud Basdevant
Publikováno v:
Diabetologia. 40(6)
Synthesis and release of neuropeptide Y (NPY) are both regulated by leptin binding to its hypothalamic receptor mediating some of the effects of leptin on food intake. Moreover, NPY administration is a powerful stimulant of feeding behaviour. Thus, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9e561e705c9bdfeeebd0b69e04e0c1
https://pubmed.ncbi.nlm.nih.gov/9222646
https://pubmed.ncbi.nlm.nih.gov/9222646
Autor:
G D, Schuler, M S, Boguski, E A, Stewart, L D, Stein, G, Gyapay, K, Rice, R E, White, P, Rodriguez-Tomé, A, Aggarwal, E, Bajorek, S, Bentolila, B B, Birren, A, Butler, A B, Castle, N, Chiannilkulchai, A, Chu, C, Clee, S, Cowles, P J, Day, T, Dibling, N, Drouot, I, Dunham, S, Duprat, C, East, C, Edwards, J B, Fan, N, Fang, C, Fizames, C, Garrett, L, Green, D, Hadley, M, Harris, P, Harrison, S, Brady, A, Hicks, E, Holloway, L, Hui, S, Hussain, C, Louis-Dit-Sully, J, Ma, A, MacGilvery, C, Mader, A, Maratukulam, T C, Matise, K B, McKusick, J, Morissette, A, Mungall, D, Muselet, H C, Nusbaum, D C, Page, A, Peck, S, Perkins, M, Piercy, F, Qin, J, Quackenbush, S, Ranby, T, Reif, S, Rozen, C, Sanders, X, She, J, Silva, D K, Slonim, C, Soderlund, W L, Sun, P, Tabar, T, Thangarajah, N, Vega-Czarny, D, Vollrath, S, Voyticky, T, Wilmer, X, Wu, M D, Adams, C, Auffray, N A, Walter, R, Brandon, A, Dehejia, P N, Goodfellow, R, Houlgatte, J R, Hudson, S E, Ide, K R, Iorio, W Y, Lee, N, Seki, T, Nagase, K, Ishikawa, N, Nomura, C, Phillips, M H, Polymeropoulos, M, Sandusky, K, Schmitt, R, Berry, K, Swanson, R, Torres, J C, Venter, J M, Sikela, J S, Beckmann, J, Weissenbach, R M, Myers, D R, Cox, M R, James, D, Bentley, P, Deloukas, E S, Lander, T J, Hudson
Publikováno v:
Science (New York, N.Y.). 274(5287)
The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::86006a497bcd8cfe5fdda4c13cefc401
https://pubmed.ncbi.nlm.nih.gov/8849440
https://pubmed.ncbi.nlm.nih.gov/8849440
Autor:
A, Helbling-Leclerc, H, Topaloglu, F M, Tomé, C, Sewry, G, Gyapay, I, Naom, F, Muntoni, V, Dubowitz, A, Barois, B, Estournet
Publikováno v:
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie. 318(12)
The laminin alpha 2-chain gene mutations (LAMA2) are responsible for about 50% of the cases of classical congenital muscular dystrophy. These patients form a clinically homogenous group presenting merosin (laminin alpha 2-chain) deficiency in muscle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ed8c21d6d79a69c2bae68bbfa42cddd
https://pubmed.ncbi.nlm.nih.gov/8745640
https://pubmed.ncbi.nlm.nih.gov/8745640
Autor:
M, Kestilä, M, Männikkö, C, Holmberg, G, Gyapay, J, Weissenbach, E R, Savolainen, L, Peltonen, K, Tryggvason
Publikováno v:
American journal of human genetics. 54(5)
Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease that is characterized by massive proteinuria and nephrotic syndrome at birth. CNF represents a unique, apparently specific dysfunction of the renal basement mem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b19e16e754db71ca3b72d1a851440041
https://pubmed.ncbi.nlm.nih.gov/8178817
https://pubmed.ncbi.nlm.nih.gov/8178817
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.