Loreto Martorell - Concepedia

Author

Loreto Martorell

Hospital Sant Joan de Déu Barcelona ORCID

Also Known As

L Martorell, L Martorell Sampol, L. Martorell, L. Martorell Sampol, L. Martorell‐Sampol, L. Sampol, Loreto Martorell, Loreto Martorell Sampol, Loreto Martorell-Sampol, Loreto Martorell‐Sampol

139

Publications

Citations

H-Index

Concepts

All Affiliations

Hospital Sant Joan de Déu Barcelona Centre for Biomedical Network Research on Rare Diseases Hospital de Sant Pau Instituto de Salud Carlos III Hospital Universitario La Paz

About

Loreto Martorell is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	29	1.3K
2	Public Health	5	5	179
3	Arts	1	1	18
4	Health Sciences	1	1	19
5	Natural Sciences	1	1	10

Loreto Martorell

Publications

4.3K

Citations

H-Index

Page 1

	Year	Citations
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations Nicole Revençu, Laurence M. Boon, John B. Mulliken, Human Mutation	2008	424
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek, Brain	2010	406
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, The American Journal of Human Genetics MechanobiologyDevelopmental AnomalyEither Enpp1Arterial CalcificationGenetics	2011	335
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Journal of Medical Genetics	2015	293
<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Nicole Revençu, Laurence M. Boon, Antonella Mendola, Human Mutation	2013	282
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling Mustapha Amyere, Nicole Revençu, Raphaël Helaers, Circulation	2017	282
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients Loreto Martorell Human Molecular Genetics	1998	154
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, European Journal of Human Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesis	2010	147
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson, Journal of Neurodevelopmental Disorders	2014	109
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Crystel Bonnet, Zied Riahi, Sandra Chantot‐Bastaraud, European Journal of Human Genetics	2016	106

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