Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Isabelle, De Bie"'
Autor:
Valérie Larouche, Marie-Frédérique Paré, Pierre-Olivier Grenier, Anna Wieckowska, Eric Gagné, Rachel Laframboise, Nada Jabado, Isabelle De Bie
Publikováno v:
Current Oncology, Vol 30, Iss 10, Pp 8992-9003 (2023)
Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmenta
Externí odkaz:
https://doaj.org/article/7a85a845c31941a29b56dc5072539f4b
Publikováno v:
Journal of Health Science and Medical Research (JHSMR), Vol 39, Iss 3, Pp 257-262 (2021)
A large hepatic mixed echoic mass occupying the left fetal abdomen was identified at 266/7 weeks. The mass showed peripheral and internal vascularity. Other ultrasound findings included edema of the fetal head and face, macrosomia, shortened long bon
Externí odkaz:
https://doaj.org/article/b1bb40d3826d49c3bdfc90e668d9f250
Autor:
Charlotte Dubucs, Jacqueline Aziza, Agnès Sartor, François Heitz, Annick Sevely, Damien Sternberg, Claude Jardel, Tiscar Cavallé-Garrido, Steffen Albrecht, Chantal Bernard, Isabelle De Bie, Nicolas Chassaing
Publikováno v:
Molecular Syndromology. 14:101-108
Introduction: Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken. Methods: Two pregnancies with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc8a245c979c32fc5d3f4ab0dc78e1b1
https://doi.org/10.1159/000526022
https://doi.org/10.1159/000526022
Autor:
Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard
Publikováno v:
Neurogenetics, 23(4), 271-274. Springer-Verlag
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05b9edab3fd45f39698927ab6c0a5f6
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26cc
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26cc
Autor:
Jérémy Dana, Guillaume Dorval, Christine Saint Martin, Kahina Belhous, Raphael Levy, Sandrine Marlin, Isabelle De Bie, Manon Mautret‐Godefroy, Antonio Rausell, Marlène Rio, Elise Boucher‐Brischoux, Tania Attié‐Bitach, Nathalie Boddaert, Véronique Pingault
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8254d99d3462d1518dfaf35770b75a09
https://doi.org/10.1111/cge.14363
https://doi.org/10.1111/cge.14363
Autor:
Julian Delanne, Magaly Lecat, Patrick R. Blackburn, Eric W. Klee, Constance T.R.M. Stumpel, Sander Stegmann, Servi J.C. Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna C. Herkert, Pernille M. Torring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne M.C. Hendriks, Lilian Bomme Ousager, Renee Bend, Hannah Warren, Steven A. Skinner, Michael J. Lyons, Charlotte Pöe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
European Journal of Medical Genetics, 66(1):104670. Elsevier
Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.Using exome sequencing (ES) and international data sharing, we identified 14 addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176d48fb12847e342ce4cacae5fc3460
https://doi.org/10.1016/j.ejmg.2022.104670
https://doi.org/10.1016/j.ejmg.2022.104670
Autor:
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
Publikováno v:
Journal of Medical Genetics. :jmg-2023
BackgroundRNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d4df9637250501cc471a54e0491ff52
https://doi.org/10.1136/jmg-2023-109223
https://doi.org/10.1136/jmg-2023-109223
Autor:
Julian Delanne, Magali Lecat, Patrick Blackburn, Eric Klee, Constance Stumpel, Sander Stegmann, Servi Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna Herkert, Pernille Toerring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne Hendriks, Lilian Bomme Ousager, Renee Bend, Hannah Warren, Steve Skinner, Michael Lyons, Charlotte Poe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2087477483287af5ef65f28c5ea99e08
https://doi.org/10.2139/ssrn.4170054
https://doi.org/10.2139/ssrn.4170054
Autor:
Isabelle Boucoiran, Isabelle De Bie
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 41:862-869
Resume Objectif Informer les fournisseurs canadiens de soins de sante perinatale des criteres diagnostiques de la microcephalie fœtale et fournir l'information sur les analyses pertinentes, le pronostic, et la prise en charge prenatale et perinatale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3f8e15e73f5aaef53bb2cd396f673a1
https://doi.org/10.1016/j.jogc.2019.01.008
https://doi.org/10.1016/j.jogc.2019.01.008
Autor:
Chantal Bernard, Corinne Antignac, Nancy Braverman, Martin Bitzan, Miriam Blumenkrantz, Indra R. Gupta, Vincent Morinière, Marie Claire Gubler, K. Bridget Brosnihan, Ahmed Alfares, Avi Saskin, Isabelle De Bie
Publikováno v:
European Journal of Medical Genetics. 62:254-258
Renal tubular dysgenesis (RTD) is a developmental abnormality of the nephron characterized by fetal anuria, oligohydramnios, and severe postnatal hypotension. Genetic forms have an autosomal recessive inheritance and are caused by mutations in genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc5e6cb9f6fae6e7f5e4c655fd1a00f
https://doi.org/10.1016/j.ejmg.2018.07.024
https://doi.org/10.1016/j.ejmg.2018.07.024