David Salgado

David Salgado

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David Salgado

David Salgado

Publications by authors named "David Salgado"

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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 May;12(5):e002500

Département de génétique médicale, APHM, Hôpital d'enfants de la Timone, Marseille, France. Aix Marseille University, INSERM, Marseille Medical Genetics, Faculté de Médecine, France (K.N., S.R., D.S., J.-P.D., M.C., F.M., C.B., N.L.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002500DOI Listing
May 2019

Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl.

J Pediatr Gastroenterol Nutr 2018 05;66(5):e132-e134

Faculty of Medicine, University of Ottawa.

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http://dx.doi.org/10.1097/MPG.0000000000001899DOI Listing
May 2018

[OISO, automatic treatment of patients management in oncogenetics].

Bull Cancer 2017 Jul - Aug;104(7-8):602-607. Epub 2017 Jul 8.

Aix-Marseille université, Inserm, GMGF UMR_S 910, 27, boulevard Jean-Moulin, 13385 Marseille, France; RGDS, hôpital Clairval, 317, boulevard du Redon, 13009 Marseille, France; AP-HM Timone, département de génétique médicale, 264, rue Saint-Pierre, 13005 Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.bulcan.2017.06.003DOI Listing
August 2017

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

Hum Mutat 2016 12 26;37(12):1272-1282. Epub 2016 Sep 26.

Aix Marseille University, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1002/humu.23110DOI Listing
December 2016

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Blood 2015 Sep 6;126(11):1273-80. Epub 2015 Jul 6.

Aix-Marseille Université, INSERM, Unité Mixte de Recherche S910, Marseille, France; Assistance Publique-Hopitaux de Marseille, Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France; Assistance Publique-Hopitaux de Marseille, Laboratoire de Biochimie, Hôpital Conception, Marseille, France;

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http://dx.doi.org/10.1182/blood-2015-04-642496DOI Listing
September 2015

Identification of splicing defects caused by mutations in the dysferlin gene.

Hum Mutat 2014 Dec;35(12):1532-41

Aix Marseille Université, GMGF, Marseille, 13385, France; Inserm, UMR_S 910, Marseille, 13385, France.

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http://dx.doi.org/10.1002/humu.22710DOI Listing
December 2014

The quail anatomy portal.

Database (Oxford) 2014 7;2014(0):bau028. Epub 2014 Apr 7.

School of Biological Sciences, Monash University, Melbourne, Victoria 3800, Australia, The Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia, Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia, Aix Marseille Université, Inserm, GMGF UMR_S 910, 13385 Marseille, France, Instituto Gulbenkian de Ciencia, Rua da Avenida Grande 6, 2780-156 Oeiras, Portugal and Centre for Environmental Biology, Faculdade de Ciencias da Universidade de Lisboa, Campo Grande, 1749-016 Lisbon, Portugal.

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http://dx.doi.org/10.1093/database/bau028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978374PMC
October 2014

Cytohesin-associated scaffolding protein (CASP) is involved in migration and IFN-γ secretion in natural killer cells.

Biochem Biophys Res Commun 2014 Aug 21;451(2):165-70. Epub 2014 Jul 21.

Department of Biology, Dalhousie University, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.07.065DOI Listing
August 2014

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

The Zebrafish Anatomy Portal: a novel integrated resource to facilitate zebrafish research.

Dev Biol 2012 Dec 8;372(1):1-4. Epub 2012 Sep 8.

Australian Regenerative Medicine Institute, Monash University, Melbourne, Victoria 3800, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00121606120049
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http://dx.doi.org/10.1016/j.ydbio.2012.08.031DOI Listing
December 2012

MyMiner: a web application for computer-assisted biocuration and text annotation.

Bioinformatics 2012 Sep 12;28(17):2285-7. Epub 2012 Jul 12.

Australian Regenerative Medicine Institute (ARMI), Monash University, Clayton, Victoria 3800, Australia.

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http://dx.doi.org/10.1093/bioinformatics/bts435DOI Listing
September 2012

Neural crest regulates myogenesis through the transient activation of NOTCH.

Nature 2011 May 15;473(7348):532-5. Epub 2011 May 15.

EMBL Australia, Australian Regenerative Medicine Institute, Monash University, Building 75, Clayton, Victoria 3800, Australia.

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http://dx.doi.org/10.1038/nature09970DOI Listing
May 2011

COMPARE, a multi-organism system for cross-species data comparison and transfer of information.

Bioinformatics 2008 Feb 1;24(3):447-9. Epub 2007 Dec 1.

Developmental Biology Institute of Marseille Luminy (IBDML), CNRS UMR 6216, Université de la Méditerranée, Campus de Luminy, case 907. 13288 Marseille, France.

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http://dx.doi.org/10.1093/bioinformatics/btm599DOI Listing
February 2008