Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Marie Pierre Papasavvas"'
Autor:
Shuichi Asakawa, S. Qasim Mehdi, Marie Pierre Papasavvas, Uppala Radhakrishna, Batsheva Bonne-Tamir, Stylianos E. Antonarakis, Nobuyoshi Shimizu, Roman Chrast, Marie Wattenhofer, Michael Korostishevsky, Corinne Gehrig, Kazuhiko Kawasaki, Farah Younus, Kazunori Shibuya, Andreas Gal, Michel Guipponi, Hamish S. Scott, Jun Wang, Asher Berry, Colette Rossier, Shinsei Minoshima, Jun Kudoh
Publikováno v:
Nature Genetics, Vol. 27, No 1 (2001) pp. 59-63
Approximately 50% of childhood deafness is caused by mutations in specific genes. Autosomal recessive loci account for approximately 80% of nonsyndromic genetic deafness. Here we report the identification of a new transmembrane serine protease (TMPRS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c56cf18df27154cfb3deaa8b982e99
https://pubmed.ncbi.nlm.nih.gov/11137999
https://pubmed.ncbi.nlm.nih.gov/11137999
Publikováno v:
Human Genetics, Vol. 109, No 1 (2001) pp. 40-47
To estimate the error rate of the gene expression machinery and its possible age-related increase, we compared the occurrence of polymerase errors during replication and transcription in (A)/(T) runs, in DNA and RNA of young and old individuals and o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91856c8e4f3421dad4c2f3f2c4cf162b
https://archive-ouverte.unige.ch/unige:8955
https://archive-ouverte.unige.ch/unige:8955
Autor:
Emmanuel S. Antonarakis, Muriel T. Davisson, Melanie April Pritchard, Xavier Estivill, Colette Rossier, Stylianos E. Antonarakis, Marie Pierre Papasavvas, Roman Chrast, Cecilia Schmidt, Hamish S. Scott, Mara Dierssen, Christine Barras
Publikováno v:
Karolinska Institutet
Genome Research, Vol. 10, No 12 (2000) pp. 2006-2021
Genome Research, Vol. 10, No 12 (2000) pp. 2006-2021
Trisomy 21, or Down syndrome (DS), is the most common genetic cause of mental retardation. Changes in the neuropathology, neurochemistry, neurophysiology, and neuropharmacology of DS patients' brains indicate that there is probably abnormal developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12de0116cc17e22c0590d4c49450aa05
https://europepmc.org/articles/PMC313062/
https://europepmc.org/articles/PMC313062/
Autor:
Pärt Peterson, Lauréane Mittaz, U. Maebpaa, Marie Pierre Papasavvas, Q. Chen, Noel K. Maclaren, Kai Krohn, Stylianos E. Antonarakis, Jun Kudoh, Maarit Heino, Christine Barras, Nobuyoshi Shimizu, Hamish S. Scott, Colette Rossier, Kentaro Nagamine, Constantine A. Stratakis, George P. Chrousos
Publikováno v:
Human Mutation, Vol. 13, No 1 (1999) pp. 69-74
Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands. The gene responsible for APS-1, known as AIRE (for autoimmune r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e532b95716e56ee70fc98f2f263f363e
https://archive-ouverte.unige.ch/unige:8800
https://archive-ouverte.unige.ch/unige:8800
Autor:
Anthony Weetman, Amnon Cohen, Matti Salo, Maria D. Lalioti, Pärt Peterson, Maarit Heino, Pekka Collin, Nobuyoshi Shimizu, Russell A. Metcalfe, Colette Rossier, Giovanni Romeo, Kentaro Nagamine, Marco Seri, Stylianos E. Antonarakis, Hamish S. Scott, Marie-Pierre Papasavvas, Corrado Betterle, Margherita Lerone, Kai Krohn, Jun Kudoh, Lauréane Mittaz
Publikováno v:
Molecular Endocrinology, Vol. 12, No 8 (1998) pp. 1112-1119
Scopus-Elsevier
Scopus-Elsevier
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM *240300, also called APS 1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is generally characterized by two of the three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f37a364996a15c5213554eb14c7a32
https://archive-ouverte.unige.ch/unige:9028
https://archive-ouverte.unige.ch/unige:9028