Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sarah, Boissel"'
Autor:
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
Publikováno v:
Journal of Medical Genetics. 60:294-300
BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which
Autor:
Samir, Bouasker, Nisha, Patel, Rebecca, Greenlees, Diana, Wellesley, Lucas, Fares Taie, Naif A, Almontashiri, Julia, Baptista, Malak Ali, Alghamdi, Sarah, Boissel, Jelena, Martinovic, Ivan, Prokudin, Samantha, Holden, Hardeep-Singh, Mudhar, Lisa G, Riley, Christina, Nassif, Tania, Attie-Bitach, Marguerite, Miguet, Marion, Delous, Sylvain, Ernest, Julie, Plaisancié, Patrick, Calvas, Jean-Michel, Rozet, Arif O, Khan, Fadi F, Hamdan, Robyn V, Jamieson, Fowzan S, Alkuraya, Jacques L, Michaud, Nicolas, Chassaing
Publikováno v:
Journal of medical genetics.
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inWe sequenced the exome of pat
Autor:
Sandra Darilek, Victoria Mok Siu, Carrie A. Mohila, Patrick Shannon, Ebba Alkhunaizi, Anne-Marie Laberge, Catherine Fallet-Bianco, Julianne Zandberg, Marie Injeyan, David Chitayat, Benjamin Ellezam, Shirley Shuster, Sarah Boissel, Lili-Naz Hazrati, Fadi F. Hamdan
Publikováno v:
Paediatrics Publications
The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad4d7ba40c155ec37ad4f901b4869123
https://ir.lib.uwo.ca/paedpub/386
https://ir.lib.uwo.ca/paedpub/386
Autor:
Jacques L. Michaud, Guy A. Rouleau, Pierre Drapeau, Edna Brustein, Christina Nassif, Sarah Pickles, Meijiang Liao, Lysanne Patry, Sarah Boissel, Catherine Fallet-Bianco, Jose-Mario Capo-Chichi, Mark E. Samuels, Christine Vande Velde, Damian Labuda, Fadi F. Hamdan, Sylvia Dobrzeniecka
Publikováno v:
Journal of Medical Genetics. 52:303-311
Background The heterogeneous group of 3-methylglutaconic aciduria disorders includes several inborn errors of metabolism that affect mitochondrial function through poorly understood mechanisms. We describe four newborn siblings, from a consanguineous
Autor:
William D. Fraser, Elisabeth Flori, Guy A. Rouleau, Valérie Kremer, Natalie Patey, David A. Dyment, Sarah Boissel, François Audibert, Françoise Rypens, Aspasia Karalis, Dorothée Dal Soglio, Jacques L. Michaud, David Chitayat, Philippe M. Campeau, Emmanuelle Lemyre, Mireille Cloutier, Luc L. Oligny, Sonia Nizard, Fadi F. Hamdan, Zoha Kibar, Christina Nassif, Catherine Fallet-Bianco, Marie-Ange Delrue
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(7)
Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented p
Autor:
Mohammed Zarhrate, Satoru Hashimoto, Sarah Boissel, Laurence Colleaux, Marlène Rio, Jean-Marc Egly, Arnold Munnich
Publikováno v:
médecine/sciences
médecine/sciences, EDP Sciences, 2012, 28 (2), pp.128-129. ⟨10.1051/medsci/2012282003⟩
médecine/sciences, EDP Sciences, 2012, 28 (2), pp.128-129. ⟨10.1051/medsci/2012282003⟩
Deregulation de l’expression des genes a reponse precoce et deficience intellectuelle Sarah Boissel1, Satoru Hashimoto2, Marlene Rio1, Mohammed Zarhrate1, Arnold Munnich1, Laurence Colleaux1, Jean-Marc Egly2 1 Inserm U781 et departement de genetiqu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eae10945d033f9b0d3681059a768fbf
https://hal.archives-ouvertes.fr/hal-02142336
https://hal.archives-ouvertes.fr/hal-02142336
Autor:
Sarah Boissel, Michel Vekemans, Laurence Colleaux, Catherine Turleau, Arnold Munnich, Marlène Rio, Stéphanie Gobin, Valérie Malan, Nicole Morichon-Delvallez, Jean-Paul Bonnefont, Ghislaine Royer, Annick Toutain
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2010, 18 (3), pp.285-290. ⟨10.1038/ejhg.2009.159⟩
European Journal of Human Genetics, Nature Publishing Group, 2010, 18 (3), pp.285-290. ⟨10.1038/ejhg.2009.159⟩
X-linked mental retardation is a common disorder that accounts for 5–10% of cases of mental retardation in males. Fragile X syndrome is the most common form resulting from a loss of expression of the FMR1 gene. On the other hand, partial duplicatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795e38dbaa9dc45c1141fbbe06479dc7
https://hal.archives-ouvertes.fr/hal-02044698/file/dupXq27.3q28.pdf
https://hal.archives-ouvertes.fr/hal-02044698/file/dupXq27.3q28.pdf
Autor:
Christelle Golzio, Tomas Lindahl, Hiroko Kawagoe-Takaki, Laurence Colleaux, Giles S.H. Yeo, Stephen O'Rahilly, I. Sadaf Farooqi, Noman Kadhom, Orit Reish, Philippe Froguel, Heather C. Etchevers, Vladimir Saudek, Sarah Boissel, David Meyre, Florence Molinari, Karine Proulx, Barbara Sedgwick, Arnold Munnich
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
International audience; FTO is a nuclear protein belonging to the AlkB-related non-haem iron-and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been associated with obesity, the physio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49585ee98fbd98ee0c7ae31f3e7760c0
https://hal.archives-ouvertes.fr/hal-02044723/document
https://hal.archives-ouvertes.fr/hal-02044723/document
Autor:
Sarah Edkins, Florence Molinari, Sarah Boissel, Jon W. Teague, Patrick S. Tarpey, Michael R. Stratton, François Foulquier, Gert Matthijs, Willy Morelle, Arnold Munnich, Laurence Colleaux, Gillian Turner, P. Andrew Futreal, Jozef Gecz
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩
American Journal of Human Genetics, 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩
American Journal of Human Genetics, 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩
Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39abc6886856f69a65d5cbd1012f4c91
https://hal.archives-ouvertes.fr/hal-02142197
https://hal.archives-ouvertes.fr/hal-02142197