Luis A Pérez-Jurado

Luis A Pérez-Jurado

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Luis A Pérez-Jurado

Luis A Pérez-Jurado

Publications by authors named "Luis A Pérez-Jurado"

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Novel KIT mutation presenting as marked lentiginosis.

Pediatr Dermatol 2019 Nov 9;36(6):922-925. Epub 2019 Sep 9.

Paediatric and Reproductive Genetic Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/pde.13952DOI Listing
November 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Int J Obes (Lond) 2019 Mar 29. Epub 2019 Mar 29.

Hospital Infantil Universitario Niño Jesús, Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Avenida Menéndez Pelayo, 65, 28009, Madrid, Spain.

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http://dx.doi.org/10.1038/s41366-019-0357-5DOI Listing
March 2019

rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency.

Horm Res Paediatr 2018 16;89(3):200-204. Epub 2018 Feb 16.

Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.

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http://dx.doi.org/10.1159/000486336DOI Listing
September 2018

Genetic causes of proportionate short stature.

Best Pract Res Clin Endocrinol Metab 2018 08 6;32(4):499-522. Epub 2018 Jun 6.

Full Professor of Genetics. Genetics Unit, Universitat Pompeu Fabra, Barcelona, Spain, Hospital del Mar Research Institute (IMIM), Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain, SA Clinical Genetics, Women's and Children's Hospital, North Adelaide, SA, Australia, Clinical Professor, University of Adelaide, SA, Australia.

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http://dx.doi.org/10.1016/j.beem.2018.05.012DOI Listing
August 2018

Letter to the Editor: History and clinical implications of PAPP-A2 in human growth: When reflecting on idiopathic short stature leads to a specific and new diagnosis: Understanding the concept of "low IGF-I availability".

Growth Horm IGF Res 2018 06 5;40:17-19. Epub 2018 Apr 5.

Genetics Unit, Universitat Pompeu Fabra, Barcelona, Spain; Hospital del Mar Research Institute (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; SA Clinical Genetics, Women's and Children's Hospital, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/j.ghir.2018.04.001DOI Listing
June 2018

Provision of Genetic Services for Autism and its Impact on Spanish Families.

J Autism Dev Disord 2017 Oct;47(10):2947-2956

Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10803-017-3203-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602032PMC
October 2017

One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology.

EMBO Mol Med 2017 10;9(10):1338-1345

Department of Molecular Biology & Genetics, Aarhus University, Aarhus C, Denmark.

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http://dx.doi.org/10.15252/emmm.201707950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623872PMC
October 2017

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.

J Clin Endocrinol Metab 2016 Nov 20;101(11):3879-3883. Epub 2016 Sep 20.

Department of Pediatrics and Pediatric Endocrinology (M.T.M.-C., V.B., J.P., J.A.C., G.A.M.-M., J.A.) Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Centro de Investigación Biomédica en Red (CIBEROBN), Instituto de Salud Carlos III, 28009 Madrid, Spain; Department of Endocrinology (F.H.), Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, 28040 Madrid, Spain; Cincinnati Center for Growth Disorders (A.D.), Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (H.M.D.), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina; Department of Basic Science and Craniofacial Biology (S.Y.), New York University College of Dentistry, New York, New York 10010; Oregon Health and Science University (R.G.R.), Portland, Oregon 97239; Stat5 LLC (R.G.R.), Los Altos, California 94022; Genetics Unit (L.A.P.-J.), Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 08003 Barcelona, Spain; Department of Molecular Biology and Genetics (C.O.), Aarhus University, 8000 Aarhus, Denmark; and Medical Research Laboratory (J.F.), Department of Clinical Medicine, Faculty of Health, Aarhus University and Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000 Aarhus, Denmark.

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http://dx.doi.org/10.1210/jc.2016-2751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393598PMC
November 2016

A view on clinical genetics and genomics in Spain: of challenges and opportunities.

Mol Genet Genomic Med 2016 Jul 18;4(4):376-91. Epub 2016 Jul 18.

Neurometabolic Diseases LaboratoryInstitute of NeuropathologyIDIBELLBarcelonaSpain; Center for Biomedical Research on Rare Diseases CIBERER U759BarcelonaSpain; Catalan Institution of Research and Advanced Studies (ICREA)BarcelonaSpain.

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http://dx.doi.org/10.1002/mgg3.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947857PMC
July 2016

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Hum Mutat 2016 06 15;37(6):516-23. Epub 2016 Apr 15.

Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Women's Health, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.22989DOI Listing
June 2016

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Authors:
Mitchell J Machiela Weiyin Zhou Eric Karlins Joshua N Sampson Neal D Freedman Qi Yang Belynda Hicks Casey Dagnall Christopher Hautman Kevin B Jacobs Christian C Abnet Melinda C Aldrich Christopher Amos Laufey T Amundadottir Alan A Arslan Laura E Beane-Freeman Sonja I Berndt Amanda Black William J Blot Cathryn H Bock Paige M Bracci Louise A Brinton H Bas Bueno-de-Mesquita Laurie Burdett Julie E Buring Mary A Butler Federico Canzian Tania Carreón Kari G Chaffee I-Shou Chang Nilanjan Chatterjee Chu Chen Constance Chen Kexin Chen Charles C Chung Linda S Cook Marta Crous Bou Michael Cullen Faith G Davis Immaculata De Vivo Ti Ding Jennifer Doherty Eric J Duell Caroline G Epstein Jin-Hu Fan Jonine D Figueroa Joseph F Fraumeni Christine M Friedenreich Charles S Fuchs Steven Gallinger Yu-Tang Gao Susan M Gapstur Montserrat Garcia-Closas Mia M Gaudet J Michael Gaziano Graham G Giles Elizabeth M Gillanders Edward L Giovannucci Lynn Goldin Alisa M Goldstein Christopher A Haiman Goran Hallmans Susan E Hankinson Curtis C Harris Roger Henriksson Elizabeth A Holly Yun-Chul Hong Robert N Hoover Chao A Hsiung Nan Hu Wei Hu David J Hunter Amy Hutchinson Mazda Jenab Christoffer Johansen Kay-Tee Khaw Hee Nam Kim Yeul Hong Kim Young Tae Kim Alison P Klein Robert Klein Woon-Puay Koh Laurence N Kolonel Charles Kooperberg Peter Kraft Vittorio Krogh Robert C Kurtz Andrea LaCroix Qing Lan Maria Teresa Landi Loic Le Marchand Donghui Li Xiaolin Liang Linda M Liao Dongxin Lin Jianjun Liu Jolanta Lissowska Lingeng Lu Anthony M Magliocco Nuria Malats Keitaro Matsuo Lorna H McNeill Robert R McWilliams Beatrice S Melin Lisa Mirabello Lee Moore Sara H Olson Irene Orlow Jae Yong Park Ana Patiño-Garcia Beata Peplonska Ulrike Peters Gloria M Petersen Loreall Pooler Jennifer Prescott Ludmila Prokunina-Olsson Mark P Purdue You-Lin Qiao Preetha Rajaraman Francisco X Real Elio Riboli Harvey A Risch Benjamin Rodriguez-Santiago Avima M Ruder Sharon A Savage Fredrick Schumacher Ann G Schwartz Kendra L Schwartz Adeline Seow Veronica Wendy Setiawan Gianluca Severi Hongbing Shen Xin Sheng Min-Ho Shin Xiao-Ou Shu Debra T Silverman Margaret R Spitz Victoria L Stevens Rachael Stolzenberg-Solomon Daniel Stram Ze-Zhong Tang Philip R Taylor Lauren R Teras Geoffrey S Tobias David Van Den Berg Kala Visvanathan Sholom Wacholder Jiu-Cun Wang Zhaoming Wang Nicolas Wentzensen William Wheeler Emily White John K Wiencke Brian M Wolpin Maria Pik Wong Chen Wu Tangchun Wu Xifeng Wu Yi-Long Wu Jay S Wunder Lucy Xia Hannah P Yang Pan-Chyr Yang Kai Yu Krista A Zanetti Anne Zeleniuch-Jacquotte Wei Zheng Baosen Zhou Regina G Ziegler Luis A Perez-Jurado Neil E Caporaso Nathaniel Rothman Margaret Tucker Michael C Dean Meredith Yeager Stephen J Chanock

Nat Commun 2016 06 13;7:11843. Epub 2016 Jun 13.

Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ncomms11843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909985PMC
June 2016

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

EMBO Mol Med 2016 04;8(4):363-74

Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain

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http://dx.doi.org/10.15252/emmm.201506106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818753PMC
April 2016

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.

Mol Ther 2015 Nov 28;23(11):1691-1699. Epub 2015 Jul 28.

Neurosciences Program, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Unitat de Genètica, Barcelona, Spain; Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15250016163018
Publisher Site
http://dx.doi.org/10.1038/mt.2015.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817950PMC
November 2015

DNA methylation abnormalities in congenital heart disease.

Epigenetics 2015 ;10(2):167-77

a Department of Experimental and Health Sciences ; Universitat Pompeu Fabra ; Barcelona , Spain.

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http://dx.doi.org/10.1080/15592294.2014.998536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622722PMC
October 2015

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

BMC Bioinformatics 2015 May 20;16:167. Epub 2015 May 20.

Center for Research in Environmental Epidemiology (CREAL), Doctor Aiguader 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12859-015-0608-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438530PMC
May 2015

Characterization of large structural genetic mosaicism in human autosomes.

Authors:
Mitchell J Machiela Weiyin Zhou Joshua N Sampson Michael C Dean Kevin B Jacobs Amanda Black Louise A Brinton I-Shou Chang Chu Chen Constance Chen Kexin Chen Linda S Cook Marta Crous Bou Immaculata De Vivo Jennifer Doherty Christine M Friedenreich Mia M Gaudet Christopher A Haiman Susan E Hankinson Patricia Hartge Brian E Henderson Yun-Chul Hong H Dean Hosgood Chao A Hsiung Wei Hu David J Hunter Lea Jessop Hee Nam Kim Yeul Hong Kim Young Tae Kim Robert Klein Peter Kraft Qing Lan Dongxin Lin Jianjun Liu Loic Le Marchand Xiaolin Liang Jolanta Lissowska Lingeng Lu Anthony M Magliocco Keitaro Matsuo Sara H Olson Irene Orlow Jae Yong Park Loreall Pooler Jennifer Prescott Radhai Rastogi Harvey A Risch Fredrick Schumacher Adeline Seow Veronica Wendy Setiawan Hongbing Shen Xin Sheng Min-Ho Shin Xiao-Ou Shu David VanDen Berg Jiu-Cun Wang Nicolas Wentzensen Maria Pik Wong Chen Wu Tangchun Wu Yi-Long Wu Lucy Xia Hannah P Yang Pan-Chyr Yang Wei Zheng Baosen Zhou Christian C Abnet Demetrius Albanes Melinda C Aldrich Christopher Amos Laufey T Amundadottir Sonja I Berndt William J Blot Cathryn H Bock Paige M Bracci Laurie Burdett Julie E Buring Mary A Butler Tania Carreón Nilanjan Chatterjee Charles C Chung Michael B Cook Michael Cullen Faith G Davis Ti Ding Eric J Duell Caroline G Epstein Jin-Hu Fan Jonine D Figueroa Joseph F Fraumeni Neal D Freedman Charles S Fuchs Yu-Tang Gao Susan M Gapstur Ana Patiño-Garcia Montserrat Garcia-Closas J Michael Gaziano Graham G Giles Elizabeth M Gillanders Edward L Giovannucci Lynn Goldin Alisa M Goldstein Mark H Greene Goran Hallmans Curtis C Harris Roger Henriksson Elizabeth A Holly Robert N Hoover Nan Hu Amy Hutchinson Mazda Jenab Christoffer Johansen Kay-Tee Khaw Woon-Puay Koh Laurence N Kolonel Charles Kooperberg Vittorio Krogh Robert C Kurtz Andrea LaCroix Annelie Landgren Maria Teresa Landi Donghui Li Linda M Liao Nuria Malats Katherine A McGlynn Lorna H McNeill Robert R McWilliams Beatrice S Melin Lisa Mirabello Beata Peplonska Ulrike Peters Gloria M Petersen Ludmila Prokunina-Olsson Mark Purdue You-Lin Qiao Kari G Rabe Preetha Rajaraman Francisco X Real Elio Riboli Benjamín Rodríguez-Santiago Nathaniel Rothman Avima M Ruder Sharon A Savage Ann G Schwartz Kendra L Schwartz Howard D Sesso Gianluca Severi Debra T Silverman Margaret R Spitz Victoria L Stevens Rachael Stolzenberg-Solomon Daniel Stram Ze-Zhong Tang Philip R Taylor Lauren R Teras Geoffrey S Tobias Kala Viswanathan Sholom Wacholder Zhaoming Wang Stephanie J Weinstein William Wheeler Emily White John K Wiencke Brian M Wolpin Xifeng Wu Jay S Wunder Kai Yu Krista A Zanetti Anne Zeleniuch-Jacquotte Regina G Ziegler Mariza de Andrade Kathleen C Barnes Terri H Beaty Laura J Bierut Karl C Desch Kimberly F Doheny Bjarke Feenstra David Ginsburg John A Heit Jae H Kang Cecilia A Laurie Jun Z Li William L Lowe Mary L Marazita Mads Melbye Daniel B Mirel Jeffrey C Murray Sarah C Nelson Louis R Pasquale Kenneth Rice Janey L Wiggs Anastasia Wise Margaret Tucker Luis A Pérez-Jurado Cathy C Laurie Neil E Caporaso Meredith Yeager Stephen J Chanock

Am J Hum Genet 2015 Mar;96(3):487-97

Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375431PMC
March 2015

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Hum Mol Genet 2014 Dec 15;23(24):6481-94. Epub 2014 Jul 15.

Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain, Neurosciences Program, Institut Hospital del Mar D'Investigacions Mèdiques (IMIM), Barcelona 08003, Spain,

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http://dx.doi.org/10.1093/hmg/ddu368DOI Listing
December 2014

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children.

Arch Dis Child 2014 Oct 1;99(10):965-7. Epub 2014 Aug 1.

Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain CIBER Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1136/archdischild-2014-307097DOI Listing
October 2014

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.

EMBO Mol Med 2014 03 30;6(3):299-306. Epub 2014 Jan 30.

Departments of Endocrinology and Pediatrics, Hospital Infantil Universitario Niño Jesús Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/emmm.201303573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958305PMC
March 2014

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

Am J Hum Genet 2014 Mar 20;94(3):361-72. Epub 2014 Feb 20.

Hospital del Mar Research Institute (IMIM), Barcelona 08003, Spain; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona 08003, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951940PMC
March 2014

TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif.

Gene 2013 Sep 3;527(2):529-36. Epub 2013 Jul 3.

Unitat de Genètica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.gene.2013.06.050DOI Listing
September 2013

Detectable clonal mosaicism and its relationship to aging and cancer.

Authors:
Kevin B Jacobs Meredith Yeager Weiyin Zhou Sholom Wacholder Zhaoming Wang Benjamin Rodriguez-Santiago Amy Hutchinson Xiang Deng Chenwei Liu Marie-Josephe Horner Michael Cullen Caroline G Epstein Laurie Burdett Michael C Dean Nilanjan Chatterjee Joshua Sampson Charles C Chung Joseph Kovaks Susan M Gapstur Victoria L Stevens Lauren T Teras Mia M Gaudet Demetrius Albanes Stephanie J Weinstein Jarmo Virtamo Philip R Taylor Neal D Freedman Christian C Abnet Alisa M Goldstein Nan Hu Kai Yu Jian-Min Yuan Linda Liao Ti Ding You-Lin Qiao Yu-Tang Gao Woon-Puay Koh Yong-Bing Xiang Ze-Zhong Tang Jin-Hu Fan Melinda C Aldrich Christopher Amos William J Blot Cathryn H Bock Elizabeth M Gillanders Curtis C Harris Christopher A Haiman Brian E Henderson Laurence N Kolonel Loic Le Marchand Lorna H McNeill Benjamin A Rybicki Ann G Schwartz Lisa B Signorello Margaret R Spitz John K Wiencke Margaret Wrensch Xifeng Wu Krista A Zanetti Regina G Ziegler Jonine D Figueroa Montserrat Garcia-Closas Nuria Malats Gaelle Marenne Ludmila Prokunina-Olsson Dalsu Baris Molly Schwenn Alison Johnson Maria Teresa Landi Lynn Goldin Dario Consonni Pier Alberto Bertazzi Melissa Rotunno Preetha Rajaraman Ulrika Andersson Laura E Beane Freeman Christine D Berg Julie E Buring Mary A Butler Tania Carreon Maria Feychting Anders Ahlbom J Michael Gaziano Graham G Giles Goran Hallmans Susan E Hankinson Patricia Hartge Roger Henriksson Peter D Inskip Christoffer Johansen Annelie Landgren Roberta McKean-Cowdin Dominique S Michaud Beatrice S Melin Ulrike Peters Avima M Ruder Howard D Sesso Gianluca Severi Xiao-Ou Shu Kala Visvanathan Emily White Alicja Wolk Anne Zeleniuch-Jacquotte Wei Zheng Debra T Silverman Manolis Kogevinas Juan R Gonzalez Olaya Villa Donghui Li Eric J Duell Harvey A Risch Sara H Olson Charles Kooperberg Brian M Wolpin Li Jiao Manal Hassan William Wheeler Alan A Arslan H Bas Bueno-de-Mesquita Charles S Fuchs Steven Gallinger Myron D Gross Elizabeth A Holly Alison P Klein Andrea LaCroix Margaret T Mandelson Gloria Petersen Marie-Christine Boutron-Ruault Paige M Bracci Federico Canzian Kenneth Chang Michelle Cotterchio Edward L Giovannucci Michael Goggins Judith A Hoffman Bolton Mazda Jenab Kay-Tee Khaw Vittorio Krogh Robert C Kurtz Robert R McWilliams Julie B Mendelsohn Kari G Rabe Elio Riboli Anne Tjønneland Geoffrey S Tobias Dimitrios Trichopoulos Joanne W Elena Herbert Yu Laufey Amundadottir Rachael Z Stolzenberg-Solomon Peter Kraft Fredrick Schumacher Daniel Stram Sharon A Savage Lisa Mirabello Irene L Andrulis Jay S Wunder Ana Patiño García Luis Sierrasesúmaga Donald A Barkauskas Richard G Gorlick Mark Purdue Wong-Ho Chow Lee E Moore Kendra L Schwartz Faith G Davis Ann W Hsing Sonja I Berndt Amanda Black Nicolas Wentzensen Louise A Brinton Jolanta Lissowska Beata Peplonska Katherine A McGlynn Michael B Cook Barry I Graubard Christian P Kratz Mark H Greene Ralph L Erickson David J Hunter Gilles Thomas Robert N Hoover Francisco X Real Joseph F Fraumeni Neil E Caporaso Margaret Tucker Nathaniel Rothman Luis A Pérez-Jurado Stephen J Chanock

Nat Genet 2012 May 6;44(6):651-8. Epub 2012 May 6.

Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), Rockville, Maryland, USA.

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http://dx.doi.org/10.1038/ng.2270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372921PMC
May 2012

Cellular crosstalk between TNF-α, NADPH oxidase, PKCβ2, and C2GNT in human leukocytes.

Cell Signal 2012 Apr 13;24(4):873-8. Epub 2011 Dec 13.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, Universities of Exeter & Plymouth, UK.

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http://dx.doi.org/10.1016/j.cellsig.2011.12.003DOI Listing
April 2012

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

J Med Genet 2011 Nov 3;48(11):776-8. Epub 2011 Oct 3.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100147
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2011-100147DOI Listing
November 2011

Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

Hum Genet 2010 Jul 17;128(1):27-37. Epub 2010 Apr 17.

Unitat de Genètica, Universitat Pompeu Fabra, y CIBER de Enfermedades Raras, Parc de Recerca Biomèdica de Barcelona, C/Dr Aiguader, 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s00439-010-0817-4DOI Listing
July 2010

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Eur J Hum Genet 2009 Jan 20;17(1):71-9. Epub 2008 Aug 20.

Medical and Molecular Genetics Center, IDIBELL, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2008.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985956PMC
January 2009

Direct tandem duplication in chromosome 19q characterized by array CGH.

Eur J Med Genet 2008 May-Jun;51(3):257-63. Epub 2008 Feb 2.

Sección de Genética Médica, Hospital Universitario La Paz, Madrid, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2008.01.003DOI Listing
August 2008

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Genome Res 2008 May 21;18(5):683-94. Epub 2008 Feb 21.

Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona 08003, Spain.

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http://dx.doi.org/10.1101/gr.073197.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2336808PMC
May 2008

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

Am J Med Genet A 2007 May;143A(10):1108-13

Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31709DOI Listing
May 2007

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

Am J Hum Genet 2006 Apr 31;78(4):533-42. Epub 2006 Jan 31.

Unitat de Genètica, Department de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Dr. Aiguader 80, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1086/501073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1424678PMC
April 2006

Mutational mechanisms of Williams-Beuren syndrome deletions.

Am J Hum Genet 2003 Jul 9;73(1):131-51. Epub 2003 Jun 9.

Unitat de Genètica, Departament Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003 Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180575PMC
http://dx.doi.org/10.1086/376565DOI Listing
July 2003