Zobrazeno 1 - 10
of 233
pro vyhledávání: '"Louis Dallaire"'
Publikováno v:
Cégep Garneau. 50 ans de vie pédagogique et de passion pour l'excellence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1820b0f66dbc2c48bd59a218c9217b9
https://doi.org/10.2307/j.ctv1g244tv.13
https://doi.org/10.2307/j.ctv1g244tv.13
Publikováno v:
Clinical Genetics. 26:304-307
The authors studied the time of conception of 280 fetuses and liveborns with anencephaly or spina bifida seen in a French Canadian population during a period of six years. There is an evident seasonal variation in the conception of NTD fetuses. Using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae43556c224a9213293c3261a435797
https://doi.org/10.1111/j.1399-0004.1984.tb01064.x
https://doi.org/10.1111/j.1399-0004.1984.tb01064.x
Publikováno v:
American Journal of Medical Genetics. 87:302-305
Duplication of a portion of Xq has been observed in males with abnormalities. In some cases, their mothers or even grandmothers had the same duplication but did not show any phenotypic abnormalities. However, a few cases of females with a de novo Xq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523eb156c17f79838e737f4854480820
https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<302::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<302::aid-ajmg4>3.0.co
Autor:
J. Philip Welch, Hungshu Wang, Louis Dallaire, Jo Ann Johnson, R. Douglas Wilson, Patrice Eydoux, Darrell J. Tomkins, Elizabeth J. T. Winsor, Philip Wyatt, Dagmar K. Kalousek, Ronald F. Carter, Joel Singer, Jim C.C. Lin, Sandra A. Farrell, Yao Shan Fan, A. J. Dawson
Publikováno v:
Prenatal Diagnosis. 19:620-627
Cytogenetic results from a large multicentre randomized controlled study of 2108 amniotic fluids obtained at 11+0–12+6 weeks (EA) and 1999 fluids at 15+0–16+6 weeks (MA) were compared. There was no statistically significant difference in the rate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2fd437fc7d18e62933f88fa009f19a7
https://doi.org/10.1002/(sici)1097-0223(199907)19:7<620::aid-pd599>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199907)19:7<620::aid-pd599>3.0.co
Publikováno v:
American Journal of Medical Genetics. 82:149-154
Prenatal diagnosis of chromosomal disorders has been performed for more than 20 years, mainly for advanced maternal age. Chromosomal abnormality rates derived from second trimester amniocentesis have mainly come from a collection of small-scale studi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::132cf48e4677dfeb19a963289cac8627
https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<149::aid-ajmg10>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<149::aid-ajmg10>3.0.co
Publikováno v:
American Journal of Medical Genetics. 75:40-44
We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c792e3e7a84a5088f9635014ba05c6
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<40::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<40::aid-ajmg9>3.0.co
Autor:
Y. S. Fan, A. Dawson, H. S. Wang, Ronald F. Carter, J. Singer, S. Farrell, J. O'Farrell, Gail Robinson, R. D. Wilson, Elizabeth J.T. Winsor, M. DesRochers, J. C. C. Lin, Philip Wyatt, Louis Dallaire, Patrick Mohide, K. Babaian, B. MacLean, Jerome Dansereau, M. L. Beecroft, B. A. Armson, L. Cartier, H. Hogg, S. L. Drinnan, S. Soanes, J. P. Welch, S. Provencher, RonaldJ. Benzie, J. Brown, D. Kalousek, Nanette Okun, P. Eydoux, D. Chadwick, Anne Summers, C. Mitchell, M. Park, Jo-Ann Johnson, M. F. Ho, J. Hillier, Darrell J. Tomkins, R. Natale, Christopher Harman, F. Tihy
Publikováno v:
The Lancet. 351:242-247
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fa34b08dbd41df5ca0847336027604c
https://doi.org/10.1016/s0140-6736(97)12346-7
https://doi.org/10.1016/s0140-6736(97)12346-7
Autor:
Catherine Richard, Lorraine Michaud, Michel Potier, Alexey V. Pshezhetsky, Suleiman A. Igdoura, Shupei Wang, Daniel Leclerc, Roy A. Gravel, Marc-André Elsliger, Louis Dallaire, Jingyi Qu
Publikováno v:
Nature Genetics. 15:316-320
Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has been well studied in viruses and bacteria where it destroys the sialic acid-containing receptors at the surface of host c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14e295e1a26c01942f43719d8e7b3df
https://doi.org/10.1038/ng0397-316
https://doi.org/10.1038/ng0397-316
Publikováno v:
Human Genetics. 98:323-327
We describe a novel fragile site in a rearranged chromosome, associated with the presence of telomeric repeat sequences at the fusion point of a translocation between chromosomes 13 and Y. The case reported in this study shows a de novo (Y;13) transl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9859a1f192b88c8c7b76edfe7a219b0d
https://doi.org/10.1007/s004390050216
https://doi.org/10.1007/s004390050216
Autor:
Bruno Maranda, Serge Melancon, Elisabeth Holme, C. Ronald Scott, Jean Larochelle, A. Grenier, Véronique Phan, Piero Rinaldo, Luc Pelletier, Frédéric Faucher, Jean-François Bussières, Sven Lindstedt, Paul Goodyer, Josée Dubois, Louis Dallaire, John J. Mitchell, Aicha Merouani, Marie Lambert, Isabelle Chevalier, Daphna Fenyves, Fernando Alvarez, Guy Parizeault, Grant A. Mitchell, Charles Scriver, Rachel Laframboise
Publikováno v:
Molecular genetics and metabolism. 107(1-2)
Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1 screening is practiced. Nitisinone (NTBC, Orfadin ®) inhibi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f821fa07b5cc59ac16251512685962
https://pubmed.ncbi.nlm.nih.gov/22885033
https://pubmed.ncbi.nlm.nih.gov/22885033