Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Marylène Rousseau"'
Autor:
Xiaoyu Du, Steven Paraskevas, Houria Ounissi-Benkalha, Constantin Polychronakos, Marylène Rousseau, Luc Marchand, Arif Jetha, Cynthia G. Goodyer
Publikováno v:
Journal of Molecular Histology. 42:129-136
ZAC is a transcription factor and cofactor, a strong candidate for transient neonatal diabetes mellitus (TNDM). TNDM involves impaired beta-cell development and is probably due to a double dose of ZAC, which is normally expressed only from the patern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b9ff989f11716d26a89d45401e574f
https://doi.org/10.1007/s10735-011-9315-9
https://doi.org/10.1007/s10735-011-9315-9
Autor:
Manuela Fleming, Fátima Reto, Paula Coutinho, Marylène Rousseau, Susana Lêdo, Alice Lopes, Filomena Taborda, Patrícia Maciel, Ana Maria Fortuna, José Rocha, Guy A. Rouleau, Carlos Santos Jorge, Jorge Sequeiros
Publikováno v:
Prenatal Diagnosis. 18:611-617
MJD is the most frequent dominant ataxia and an incapacitating disorder. Onset is most frequently during the reproductive years, and genetic counselling is its only means of prevention. The causative mutation—an expansion of a (CAG)n on chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54f2053619992f5a343a915a4276c67b
https://doi.org/10.1002/(sici)1097-0223(199806)18:6<611::aid-pd289>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199806)18:6<611::aid-pd289>3.0.co
Autor:
Celia M. T. Greenwood, Alexandre Montpetit, J. Brent Richards, Si Yu Margaret Wu, Michael Pollak, Rui Li, Constantin Polychronakos, Marylène Rousseau, Tim D. Spector
Publikováno v:
Journal of medical genetics. 51(1)
The identification of somatic driver mutations in cancer has enabled therapeutic advances by identifying drug targets critical to disease causation. However, such genomic discoveries in oncology have not translated into advances for non-cancerous dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e1e0d01bf4627abe0ccbcfa78c3a45
https://pubmed.ncbi.nlm.nih.gov/24123875
https://pubmed.ncbi.nlm.nih.gov/24123875
Autor:
José Barros, Patrícia Maciel, Paula Coutinho, Cláudia Sofia Santos, Marylène Rousseau, Anabela Ferro, Guy A. Rouleau, Claudia Gaspar, Jorge Sequeiros, Maria do Carmo Costa
Publikováno v:
Archives of neurology. 58(11)
Background: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide. Objective: To address the main di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f368ffaac38457f89dbac8db897f4213
https://pubmed.ncbi.nlm.nih.gov/11708990
https://pubmed.ncbi.nlm.nih.gov/11708990
Autor:
Constantin Polychronakos, Cynthia G. Goodyer, Houria Ounissi-Benkalha, Rosemarie Grabs, Petros Vafiadis, Marylène Rousseau, Michael Palumbo
Publikováno v:
The Journal of clinical endocrinology and metabolism. 86(8)
Type 1 diabetes results from autoimmune destruction of the insulin-producing pancreatic β cells. The insulin gene (INS) is also expressed in human thymus, an ectopic expression site likely involved in immune tolerance. The IDDM2 diabetes susceptibil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f9b555c796f0c6338d33c3577e84ac
https://pubmed.ncbi.nlm.nih.gov/11502799
https://pubmed.ncbi.nlm.nih.gov/11502799
Autor:
P. C. Trevisol-Bittencourt, Maria Elisa Calcagnotto, Jaderson Costa da Costa, Guy A. Rouleau, Abelardo Q.C. Araújo, Helio Ghizoni Teive, Francisco Cardoso, Erika M. Viana, André S. Santos, Jayme Antunes Maciel, Marylène Rousseau, Iscia Lopes-Cendes
Publikováno v:
Brazilian Journal of Genetics, Volume: 20, Issue: 4, Pages: 717-724, Published: DEC 1997
Scopus-Elsevier
Brazilian Journal of Genetics v.20 n.4 1997
Brazilian Journal of Genetics
Sociedade Brasileira de Genética (SBG)
instacron:SBG
ResearcherID
Scopus-Elsevier
Brazilian Journal of Genetics v.20 n.4 1997
Brazilian Journal of Genetics
Sociedade Brasileira de Genética (SBG)
instacron:SBG
ResearcherID
Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c64fb326e8ce67fff4acfd11c7a3276
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400026&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400026&lng=en&tlng=en
Autor:
Quan Li, Houria Ounissi-Benkalha, Constantin Polychronakos, Tomi Pastinen, Rosemarie Grabs, Jerry Pelletier, Francis Robert, Yang Lu, Luc Marchand, Angeliki Makri, Marylène Rousseau, Thomas J. Hudson, Hui-Qi Qu, Eef Harmsen
Publikováno v:
Nature communications
The search for expression quantitative trait loci has traditionally centred entirely on the process of transcription, whereas variants with effects on messenger RNA translation have not been systematically studied. Here we present a high-throughput a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae111eb1ee080aafca76d9acb633b3d
http://europepmc.org/articles/PMC3749366
http://europepmc.org/articles/PMC3749366
Autor:
Marylène Rousseau, Samuel F. Berkovic, Ingrid E. Scheffer, Iscia Lopes-Cendes, Eva Andermann, Guy A. Rouleau
Publikováno v:
The American Journal of Human Genetics. (2):698-701
Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous epilepsy phenotypes. We genotyped 41 family members, including 21 affected individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f3383ca237ed8d207b0a0bf9810e657