Publications by authors named "Jordi Rosell"

55Publications

Preclinical Activity of PI3K Inhibitor Copanlisib in Gastrointestinal Stromal Tumor.

Mol Cancer Ther 2020 06 5;19(6):1289-1297. Epub 2020 May 5.

Sarcoma Translational Research Laboratory, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.

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http://dx.doi.org/10.1158/1535-7163.MCT-19-1069DOI Listing
June 2020

A neo-taphonomic approach to human campsites modified by carnivores.

Sci Rep 2020 04 20;10(1):6659. Epub 2020 Apr 20.

Centro Nacional de Investigación Sobre La Evolución Humana (CENIEH), Paseo Sierra de Atapuerca 3, 09002, Burgos, Spain.

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http://dx.doi.org/10.1038/s41598-020-63431-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170892PMC
April 2020

Shaped stone balls were used for bone marrow extraction at Lower Paleolithic Qesem Cave, Israel.

PLoS One 2020 9;15(4):e0230972. Epub 2020 Apr 9.

DANTE-Diet and Ancient Technology Laboratory, Department of Oral and Maxillofacial Sciences, Sapienza University of Rome (IT), Rome, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0230972PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145020PMC
July 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

A descriptive and comparative study of two Early Pleistocene immature scapulae from the TD6.2 level of the Gran Dolina cave site (Sierra de Atapuerca, Spain).

J Hum Evol 2020 02 2;139:102689. Epub 2020 Jan 2.

Centro Nacional de Investigación sobre la Evolución Humana (CENIEH), Paseo de la Sierra de Atapuerca 3, 09002 Burgos, Spain; Anthropology Department, University College London, 14 Taviton Street, London WC1 H 0BW, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jhevol.2019.102689DOI Listing
February 2020

Feathers and food: Human-bird interactions at Middle Pleistocene Qesem Cave, Israel.

J Hum Evol 2019 11 19;136:102653. Epub 2019 Sep 19.

Department of Archaeology, Tel-Aviv University, Institute of Archaeology, POB 39040, 69978 Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.jhevol.2019.102653DOI Listing
November 2019

Recommendations for the use of microarrays in prenatal diagnosis.

Med Clin (Barc) 2017 Apr 21;148(7):328.e1-328.e8. Epub 2017 Feb 21.

Grupo de Citogenética Molecular, Centro Nacional de Investigaciones Oncológicas, Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2016.12.028DOI Listing
April 2017

Early evidence of stone tool use in bone working activities at Qesem Cave, Israel.

Sci Rep 2016 11 25;6:37686. Epub 2016 Nov 25.

Department of Archaeology, Tel-Aviv University, Institute of Archaeology, POB 39040, 69978, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/srep37686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122879PMC
November 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

The earliest pigeon fanciers.

Sci Rep 2014 Aug 7;4:5971. Epub 2014 Aug 7.

Depto. Geodinámica y Paleontología, Facultad de Ciencias Experimentales, Campus del Carmen, Universidad de Huelva, Marine International Campus of Excellence - CEIMAR, 21071 Huelva, Spain.

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http://dx.doi.org/10.1038/srep05971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124739PMC
August 2014

Discontinuity of human presence at Atapuerca during the early Middle Pleistocene: a matter of ecological competition?

PLoS One 2014 23;9(7):e101938. Epub 2014 Jul 23.

Paleofisiología y Ecología Social de homínidos, Centro Nacional de Investigación sobre la Evolución Humana (CENIEH), Burgos, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0101938PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114206PMC
April 2015

The "bear" essentials: actualistic research on Ursus arctos arctos in the Spanish Pyrenees and its implications for paleontology and archaeology.

PLoS One 2014 16;9(7):e102457. Epub 2014 Jul 16.

Department of Anthropology, University of Wisconsin-Madison, Madison, Wisconsin, United States of America; Evolutionary Studies Institute, University of the Witwatersrand, Johannesburg, South Africa; Plio-Pleistocene Palaeontology Section, Department of Vertebrates, Ditsong National Museum of Natural History (Transvaal Museum), Pretoria, South Africa.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0102457PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100921PMC
November 2015

Genetics of lymphocytes influences the emergence of second cancer in chronic lymphocytic leukemia.

Anticancer Res 2014 May;34(5):2311-4

Hospital Universitari Son Espases, Genetics Department, Cra. Valldemossa 79, 07120 Palma de Mallorca, Mallorca, Balearic islands, Spain.

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May 2014

Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9.

Mol Genet Genomic Med 2014 Mar;2(2):201-3

Laboratori de Genòmica de la Salut, Hospital Universitari Son Espases (HUSE) Palma de Mallorca, Spain ; Fundació d'Investigació Sanitària de les Illes Balears (FISIB) Palma de Mallorca, Spain.

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http://doi.wiley.com/10.1002/mgg3.56
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http://dx.doi.org/10.1002/mgg3.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960062PMC
March 2014

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

Mol Vis 2012 29;18:3070-8. Epub 2012 Dec 29.

Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS - La Fe, Valencia, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538041PMC
May 2013

Early Pleistocene human humeri from the Gran Dolina-TD6 site (Sierra de Atapuerca, Spain).

Am J Phys Anthropol 2012 Apr 10;147(4):604-17. Epub 2012 Feb 10.

Program of Paleobiología de Homínidos, Centro Nacional de Investigación Sobre Evolución Humana, Burgos, Spain.

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http://dx.doi.org/10.1002/ajpa.22020DOI Listing
April 2012

Carcass transport decisions in Homo antecessor subsistence strategies.

J Hum Evol 2011 Oct 28;61(4):425-46. Epub 2011 Jul 28.

IPHES, Institut Català de Paleoecologia Humana i Evolució Social, C/Escorxador s/n, 43003 Tarragona, Spain.

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http://dx.doi.org/10.1016/j.jhevol.2011.05.012DOI Listing
October 2011

Structural rearrangements of trisomies are a risk marker of clinical progression in hyperdiploid multiple myeloma.

Anticancer Res 2011 May;31(5):1599-602

Genetics Department, Son Espases University Hospital, Palma de Mallorca, Spain.

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May 2011

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

BMC Med Genet 2009 Dec 23;10:144. Epub 2009 Dec 23.

Genes and Disease Program, CIBER en Epidemiología y Salud Pública (CIBERESP), Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805625PMC
December 2009

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

Nephrol Dial Transplant 2009 Oct 20;24(10):3089-96. Epub 2009 May 20.

Fundació Puigvert, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

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http://ndt.oxfordjournals.org/content/24/10/3089.full.pdf
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http://ndt.oxfordjournals.org/cgi/doi/10.1093/ndt/gfp229
Publisher Site
http://dx.doi.org/10.1093/ndt/gfp229DOI Listing
October 2009

A new early Pleistocene hominin mandible from Atapuerca-TD6, Spain.

J Hum Evol 2008 Oct 26;55(4):729-35. Epub 2008 Jul 26.

Centro Nacional de Investigación sobre Evolución Humana, Avenida de la Paz 28, 09002 Burgos, Spain.

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http://dx.doi.org/10.1016/j.jhevol.2008.03.006DOI Listing
October 2008

Dissection of the ascending aorta in a patient with HLA-B27 associated ankylosing spondylitis.

J Rheumatol 2008 Apr 15;35(4):713-6. Epub 2008 Mar 15.

Department of Rheumatology, Hospital Son Llàtzer, Palma de Mallorca, Balearic Islands, Spain.

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April 2008

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Hum Mutat 2008 Feb;29(2):248-57

Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/humu.20639DOI Listing
February 2008

dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes.

Leuk Res 2008 Jan 16;32(1):159-61. Epub 2007 May 16.

Department of Genetics, Hospital Universitari Son Dureta, Andrea Doria 55, 07014 Palma de Mallorca, Illes Balears, Spain.

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http://dx.doi.org/10.1016/j.leukres.2007.03.033DOI Listing
January 2008

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

BMC Med Genet 2007 Apr 2;8:14. Epub 2007 Apr 2.

Secció de Genètica, Hospital Universitari Son Dureta, Andrea Doria 55, Palma de Mallorca 07014, Balears, Spain. Jordi Rosell

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http://dx.doi.org/10.1186/1471-2350-8-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1855045PMC
April 2007

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

Neuromuscul Disord 2006 Oct 1;16(9-10):541-7. Epub 2006 Sep 1.

Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.nmd.2006.07.018DOI Listing
October 2006

[Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling].

Med Clin (Barc) 2006 Mar;126(11):401-5

OncoLab, Departamento de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas (IIB) Alberto Sols, CSIC-UAM, Madrid, Spain.

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http://dx.doi.org/10.1157/13086125DOI Listing
March 2006