Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jean Welssenbach"'
Autor:
Dale C. Peluso, Valerie V. Braden, Robert S. Fulton, Rose M. Mohr-Tldwell, Eric D. Green, Charles L. Magness, Barbara J. Trask, Jean Welssenbach, Hillary Massa, Jacquelyn R. ldol, Joe Kimura, Alllson M. Wllson
Publikováno v:
Human Molecular Genetics. 3:489-501
An important goal for the human genome project is to assemble fully integrated physical, genetic and cytogenetic maps for each human chromosome. Towards that end, we have isolated yeast artificial chromosome (YAC) clones containing 117 of the 119 gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d74683bb79e9949d77abb7256ae2fc1
https://doi.org/10.1093/hmg/3.3.489
https://doi.org/10.1093/hmg/3.3.489
Autor:
Danlel Cohen, llya Chumakov, Jean Welssenbach, Jennifer Lu-Kuo, Denis Le Pasller, David C. Ward
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 1994, 3 (1), pp.99-106. ⟨10.1093/hmg/3.1.99⟩
Human Molecular Genetics, Oxford University Press (OUP), 1994, 3 (1), pp.99-106. ⟨10.1093/hmg/3.1.99⟩
We have constructed a YAC contig containing 54 clones and a minimum of 7 Mbp of human DNA, that maps to bands q34 − 35 on chromosome 5. The contig was nucleated using FISH mapped cosmid clones shown to flank the t(2;5)(p23;q35) translocation breakp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a56655e83260acc2440b3fb7a8d6c6c
https://doi.org/10.1093/hmg/3.1.99
https://doi.org/10.1093/hmg/3.1.99
Autor:
Kemal Azlbi, Luclen Bachner, Jacques S.Beckmann, Kllchlro Matsumura, Elhadl Hamouda, Mallka Chaouch, Athmane Chaouch, Rachlda Alt-Ouarab, Alaln Vlgnal, Jean Welssenbach, Marie-Claude Vinet, France Leturcq, Huguette Collln, Fernando M.S.Tomé, Abderrezak Reghis, Michel Fardeau, Kevin P.Campbell, Jean-Claude Kaplan
Publikováno v:
Human Molecular Genetics. 2:1423-1428
We have recently demonstrated the specific deficiency for the 50 kDa dystrophin-associated glycoprotein (50DAG) in Algerian patients afflicted with severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype (SCARMD). A similar di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7b115908c49bac2061c1f88046e0b9
https://doi.org/10.1093/hmg/2.9.1423
https://doi.org/10.1093/hmg/2.9.1423
Autor:
Jamilé Hazan, Judith C.T. van Deutekom, George W. Padberg, Jean Welssenbach, Yves Agid, Catherine Lamy, Judith Melkl, Arnold Munnich, Richard P. M. Bruyn, Bertrand Fontaine, Olivier Lyon-Caen, Rune R. Frants, Alexandra Durr, Clalre-Sophie Rime, Alexis Brice, Jean de Recondo
Publikováno v:
Human molecular genetics. 3(9)
Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by a spasticity of the lower limbs. A locus causing AD-FSP (FSP1) has been previously mapped to chromosome 14q. We now rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13c8cf20d3b61058855bd96f8a61b94f
https://pubmed.ncbi.nlm.nih.gov/7833913
https://pubmed.ncbi.nlm.nih.gov/7833913
Autor:
Patricia Pasturaud, Catherine Devaud, Isabelle Richard, O. Broux, Valérie Allamand, Anete Perelra de Souza, Lydle Brenguler, Hung Bui, Jacques S. Beckmann, Ilya Chumakov, Jean Welssenbach, Carinne Roudaut, Nathalie Bourg, Daniel Cohen, Françoise Fougerousse, N. Chiannilkulchai, Dominique Hillaire, Dorra Cherif
Publikováno v:
Human molecular genetics. 3(2)
A gene responsible for an autosomal recessive form of limb girdle muscular dystrophy (LGMD2, MIM number 253600) has been localized on chromosome 15. After genotyping additional markers of this chromosome, two were found to flank the disease locus wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52c0ea80b4f24d83e80a8e3cea7a7a65
https://pubmed.ncbi.nlm.nih.gov/8004096
https://pubmed.ncbi.nlm.nih.gov/8004096
Autor:
Patrizia Malaspina, Cristoforo Morocutti, Andrea Novelletto, Francesca Persichetti, Howard M. Cann, Gluseppe Schinala, Rosaria Plasmati, Paola Glunti, Massimo Pandolfo, Luclano Terrenato, Marina Frontali, Caria Jodice, Jean Welssenbach, Stefano Dl Donato, Antonella Antonelli, P Lulli, Rosaria Tola, Maria Spadaro
Publikováno v:
Scopus-Elsevier
The gene for one form of autosomal dominant spinal cerebellar ataxia (SCA1), is mapped by linkage to chromosome 6p, very close to the microsatellite locus D6S89. Eight large Italian kindreds segregating SCA1, as defined by very close linkage to D6S89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::699529e0f8c54e46e61ac4447af0e5e7
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027257734&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027257734&partnerID=MN8TOARS
