Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Carla, Campagnolo"'
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract This report suggests that self‐resolving oligohydramnios is an early sign of malfunctioning kidney in individuals with renal coloboma syndrome (RCS) and demonstrates how a genetic diagnosis can impact patient and fetal management as it out
Externí odkaz:
https://doaj.org/article/b66b7283a099403984eb3ec4b19457e3
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Ectrodactyly‐ectodermal dysplasia‐clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly
Externí odkaz:
https://doaj.org/article/987c96a1f34042ce87929a5b50ae5770
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Paediatrics Publications
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Paediatrics Publications
This report suggests that self‐resolving oligohydramnios is an early sign of malfunctioning kidney in individuals with renal coloboma syndrome (RCS) and demonstrates how a genetic diagnosis can impact patient and fetal management as it outlines two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e184cee3640de004972251cf48ad87af
https://doi.org/10.22541/au.162408540.00146535/v1
https://doi.org/10.22541/au.162408540.00146535/v1
Autor:
Gavin Chapman, Carla Campagnolo, Josue Flores-Daboub, Ye Cao, Kwong Wai Choy, Tse Ngong Leung, Lauren E. Westerfield, Kavitha R Iyer, Pengfei Liu, Rui Xiao, Victoria Mok Siu, Thomas A. Drysdale, Sally L. Dunwoodie, Weimin Bi, Justin O. Szot, Hartmut Cuny
Publikováno v:
Paediatrics Publications
Am J Hum Genet
Am J Hum Genet
Birth defects occur in up to 3% of all live births and are the leading cause of infant death. Here we present five individuals from four unrelated families, individuals who share similar phenotypes with disease-causal bi-allelic variants in NADSYN1,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e1b038ea30dbbf86082aa89929c23e4
https://ir.lib.uwo.ca/paedpub/434
https://ir.lib.uwo.ca/paedpub/434
Autor:
W. Kim MacDonald, Alain Gagnon, Lola Cartier, Jo-Ann Brock, François Audibert, Carla Campagnolo, Melanie Pastuck, June C. Carroll, Jo-Ann Johnson, R. Douglas Wilson, David Chitayat, Vanessa Popa, Sylvie Langlois, Nanette Okun, Lynn Murphy-Kaulbeck
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 38:S496-S511
Resume Objectif Fournir, aux professionnels de la sante des domaines de l'obstetrique et de la genetique, des lignes directrices et des recommandations en ce qui a trait au depistage / diagnostic prenatal et a la prise en charge obstetricale du dysra
Autor:
R. Douglas Wilson, Alain Gagnon, François Audibert, Carla Campagnolo, June Carroll, Jo-Ann Brock, Karen Chong, Jo-Ann Johnson, William MacDonald, Nanette Okun, Melanie Pastuck, Karine Vallee-Pouliot
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 37:656-668
To provide maternity care providers and their patients with current evidence-based guidelines for maternal risk/benefit counselling for a prenatally identified at-risk pregnancy that requires ultrasound-guided prenatal diagnostic procedures and/or te
Autor:
Elias M. Dahdouh, Jacques Balayla, François Audibert, R. Douglas Wilson, Jo-Ann Brock, Carla Campagnolo, June Carroll, Karen Chong, Alain Gagnon, Jo-Ann Johnson, William MacDonald, Nanette Okun, Melanie Pastuck, Karine Vallée-Pouliot
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 37:451-463
Objective To update and review the techniques and indications of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Options Discussion about the genetic and technical aspects of preimplantation reproductive technique
Autor:
R. Douglas Wilson, Francois Audibert, Jo-Ann Brock, Carla Campagnolo, June Carroll, Lola Cartier, David Chitayat, Alain Gagnon, Jo-Ann Johnson, Sylvie Langlois, W. Kim MacDonald, Lynn Murphy-Kaulbeck, Nanette Okun, Melanie Pastuck, Vanessa Popa
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 36:927-939
Objective To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). Options This review include
Autor:
Alain Gagnon, Gregory Davies, R. Douglas Wilson, Francois Audibert, Jo-Ann Brock, Carla Campagnolo, June Carroll, David Chitayat, Jo-Ann Johnson, William MacDonald, Lynn Murphy-Kaulbeck, Nanette Okun, Melanie Pastuck
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 36:648-653
Objective To review the risk of in utero infection through prenatal invasive procedures in women with hepatitis B, hepatitis C, and/or human immunodeficiency virus (HIV) infections. Outcomes Fetal and neonatal morbidity and mortality. Evidence Publis
Publikováno v:
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC. 38(12S)
Resume Objectif Offrir aux fournisseurs de soins de maternite et a leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres a la tenue des i