Domingo González-Lamuño

Domingo González-Lamuño

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Domingo González-Lamuño

Domingo González-Lamuño

Publications by authors named "Domingo González-Lamuño"

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[Neonatal abstinence syndrome: Management and therapy in 25 hospitals in Spain].

An Pediatr (Barc) 2019 Sep 11;91(3):215-216. Epub 2019 Mar 11.

Servicio de Pediatría, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España; Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.02.003DOI Listing
September 2019

[Newborn screening for metabolic disorders in Spain and worldwide].

An Pediatr (Barc) 2019 Aug 21;91(2):128.e1-128.e14. Epub 2019 Jun 21.

Comisión de Diagnóstico Perinatal, Sociedad Española de Medicina de Laboratorio, Barcelona, España; Unidade de Rastreio Neonatal, Metabolismo e Genética, Departamento de Genética Humana do Instituto Nacional de Saúde Doutor Ricardo Jorge, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.anpedi.2019.05.007DOI Listing
August 2019

GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.

Stem Cell Res 2019 05 22;37:101446. Epub 2019 Apr 22.

Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research-Pfizer, University of Granada, Junta de Andalucía, PTS, 18016 Granada, Spain; Department of Biochemistry and Molecular Biology I, Faculty of Science, University of Granada, 18016 Granada, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101446DOI Listing
May 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Factors associated with grip strength among adolescents: An observational study.

J Hand Ther 2018 Nov 29. Epub 2018 Nov 29.

Department of Pediatrics, University of Cantabria, Santander, Cantabria, Spain.

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http://dx.doi.org/10.1016/j.jht.2018.10.005DOI Listing
November 2018

Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening.

Medicine (Baltimore) 2018 Aug;97(32):e11819

Neonatal Service. Department of Pediatrics, Santiago de Compostela University Hospital, IDIS (Health Research Institute of Santiago de Compostela), CIBERER, Travesia Choupana.

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http://Insights.ovid.com/crossref?an=00005792-201808100-0004
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http://dx.doi.org/10.1097/MD.0000000000011819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133615PMC
August 2018

Impact of APOE2allele on lipid profile change after a weight loss program.

Nutr Hosp 2018 03 1;35(2):305-311. Epub 2018 Mar 1.

Department of Physical Activity and Sport Sciences. Faculty of Health Sciences. Camilo José Cela University. Urb. Villafranca del Castillo, Calle Castillo de Alarcón, 49, 28692 Villanueva de la Cañada, Madrid. Spain.

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http://dx.doi.org/10.20960/nh.1278DOI Listing
March 2018

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

J Hum Genet 2016 Aug 28;61(8):731-44. Epub 2016 Apr 28.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1038/jhg.2016.38DOI Listing
August 2016

Relapses in patients with Henoch-Schönlein purpura: Analysis of 417 patients from a single center.

Medicine (Baltimore) 2016 Jul;95(28):e4217

aDivision of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria bDivision of Internal Medicine, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria cDivision of Pathology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria dDivision of Pediatrics, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria eDivision of Dermatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1097/MD.0000000000004217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4956820PMC
July 2016

Role of the monocarboxylate transporter MCT1 in the uptake of lactate during active recovery.

Eur J Appl Physiol 2016 May 29;116(5):1005-10. Epub 2016 Mar 29.

Laboratory of Pediatrics, Facultad de Medicina, Universidad de Cantabria, Avda. Cardenal Herrera Oria s/n, 39011, Santander, Cantabria, Spain.

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http://dx.doi.org/10.1007/s00421-016-3365-3DOI Listing
May 2016

Influence of ADRB2 Gln27Glu and ADRB3 Trp64Arg polymorphisms on body weight and body composition changes after a controlled weight-loss intervention.

Appl Physiol Nutr Metab 2016 Mar 25;41(3):307-14. Epub 2015 Nov 25.

a Laboratory of Exercise Physiology Research Group, Department of Health and Human Performance, Faculty of Physical Activity and Sport Sciences, Technical University of Madrid, Ciudad Universitaria de Madrid, Calle Martín Fierro 7. 28040 Madrid, Spain.

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http://dx.doi.org/10.1139/apnm-2015-0425DOI Listing
March 2016

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.

Clin Nutr 2014 Aug 26;33(4):702-17. Epub 2013 Sep 26.

Gastroenterology and Pediatric Nutrition Unit, Virgen del Camino Hospital, Irunlarrea Street 4, 31008 Pamplona, Navarra, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.clnu.2013.09.011DOI Listing
August 2014

Henoch-Schönlein purpura in northern Spain: clinical spectrum of the disease in 417 patients from a single center.

Medicine (Baltimore) 2014 Mar;93(2):106-13

From Divisions of Rheumatology (VC-R, JL, CM, FO-S, JR-G, EP, MAG-G, RB), Nephrology (LM, MA), Pediatrics (LA, DG-L), Pathology (MCG-V), and Dermatology (HF-L, MAG-L, SA), Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain.

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http://dx.doi.org/10.1097/MD.0000000000000019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4616305PMC
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

The spectrum of paraneoplastic cutaneous vasculitis in a defined population: incidence and clinical features.

Medicine (Baltimore) 2013 Nov;92(6):331-43

From the Divisions of Rheumatology (JL, VC-R, FO-S, JR-G, CM, VMM-T, MAG-G, RB), Dermatology (MAG-L, HF-L), Pathology (MCG-V), and Pediatrics (LA, DG-L), Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain.

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http://dx.doi.org/10.1097/MD.0000000000000009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553993PMC
November 2013

SpO/FiO as a predictor of non-invasive ventilation failure in children with hypoxemic respiratory insufficiency.

J Pediatr Intensive Care 2013 Sep;2(3):111-119

Pediatric Intensive Care Unit, Hospital Sant Joan de Déu, University of Barcelona, Esplugues de Llobregat, Spain.

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http://dx.doi.org/10.3233/PIC-13059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530725PMC
September 2013

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

J Hum Genet 2013 May 21;58(5):279-84. Epub 2013 Mar 21.

Unit of Metabolophaties and Nutrition, Department of Pediatrics, Hospital Universitario Virgen del Rocio, Seville, Spain.

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http://dx.doi.org/10.1038/jhg.2013.16DOI Listing
May 2013

Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

PLoS One 2012 17;7(9):e44962. Epub 2012 Sep 17.

Instituto de Biomedicina y Biotecnología de Cantabria-IBBTEC, CSIC-SODERCAN-Universidad de Cantabria, Santander, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0044962PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444499PMC
March 2013

New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.

Metabolism 2012 Dec 24;61(12):1809-16. Epub 2012 Aug 24.

Metabolic Disorders, Dietetics and Nutrition Unit, Virgen del Rocío Teaching Hospital, s/n, 41013, Sevilla, Spain.

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http://dx.doi.org/10.1016/j.metabol.2012.07.015DOI Listing
December 2012

Influence of the MCT1-T1470A polymorphism (rs1049434) on blood lactate accumulation during different circuit weight trainings in men and women.

J Sci Med Sport 2012 Nov 17;15(6):541-7. Epub 2012 Apr 17.

Department of Health and Human Performance, Universidad Politécnica de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jsams.2012.03.009DOI Listing
November 2012

Inflammation markers, chronic kidney disease, and renal replacement therapy.

Adv Perit Dial 2011 ;27:33-7

Department of Clinical Biochemistry (Dyslipidemia and Vascular Risk Unit), University Hospital Marqués de Valdecilla, IFIMAV, University of Cantabria, Santander, Spain.

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January 2012

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Dis Model Mech 2011 May 18;4(3):289-99. Epub 2011 Apr 18.

Instituto de Biomedicina y Biotecnología de Cantabria, Universidad de Cantabria-CSIC-SODERCAN, C. Herrera Oria s/n, 39011 Santander, Spain.

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http://dx.doi.org/10.1242/dmm.007732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097451PMC
May 2011

Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.

Pediatr Cardiol 2011 Jan 28;32(1):102-4. Epub 2010 Oct 28.

Cardiology Division, Pediatric Department, University Hospital Marqués de Valdecilla, Cazoña s/n, 39008 Santander, Spain.

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http://dx.doi.org/10.1007/s00246-010-9821-7DOI Listing
January 2011

MCT1 genetic polymorphism influence in high intensity circuit training: a pilot study.

J Sci Med Sport 2010 Sep 22;13(5):526-30. Epub 2009 Oct 22.

Laboratory of Exercise Physiology, Department of Health and Human Performance, Universidad Politecnica de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jsams.2009.07.004DOI Listing
September 2010

Individual and combined effects of ApoE and MTHFR 677C/T polymorphisms on cognitive performance in Spanish adolescents: the AVENA study.

J Pediatr 2010 Jun 10;156(6):978-984.e1. Epub 2010 Mar 10.

Unit for Preventive Nutrition, Department of Biosciences and Nutrition at NOVUM, Karolinska Institutet, Huddinge, Sweden; Department of Medical Physiology, School of Medicine, University of Granada, Spain.

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http://dx.doi.org/10.1016/j.jpeds.2009.12.018DOI Listing
June 2010

[When rare diseases become urgent: inborn errors of metabolism in primary care].

Aten Primaria 2009 Apr 27;41(4):221-6. Epub 2009 Mar 27.

Hospital M. Valdecilla, Universidad de Cantabria, Santander, Spain.

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http://dx.doi.org/10.1016/j.aprim.2008.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021945PMC
April 2009

Essential fatty acid deficiency profile in patients with nephrotic-range proteinuria.

Pediatr Nephrol 2007 Apr 23;22(4):533-40. Epub 2006 Nov 23.

Division of Metabolism, Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain.

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http://dx.doi.org/10.1007/s00467-006-0366-1DOI Listing
April 2007

Aerobic physical fitness in relation to blood lipids and fasting glycaemia in adolescents: influence of weight status.

Nutr Metab Cardiovasc Dis 2006 May 21;16(4):285-93. Epub 2006 Apr 21.

Department of Medical Physiology, School of Medicine, University of Granada, Granada 18071, Spain.

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http://dx.doi.org/10.1016/j.numecd.2006.02.003DOI Listing
May 2006

Low doses of alpha particle irradiation modify the expression of genes regulating apoptosis in human MCF-7 breast cancer cells.

Oncol Rep 2006 Mar;15(3):577-81

Department of Medical Physics, School of Medicine, University of Cantabria, 39011 Santander, Spain.

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March 2006

Expression and regulation of the transcriptional repressor ZNF43 in Ewing sarcoma cells.

Pediatr Pathol Mol Med 2002 Nov-Dec;21(6):531-40

Pediatrics Division, Universidad de Cantabria and Hospital M. Valdecilla, Santander, Spain.

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http://www.informaworld.com/openurl?genre=article&doi=10
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http://dx.doi.org/10.1080/15227950290112789DOI Listing
June 2003

A new pentaplex system to study short tandem repeat markers of forensic interest on X chromosome.

Forensic Sci Int 2002 Sep;129(2):85-9

Unit of Legal Medicine, Faculty of Medicine, University of Cantabria, Av. Herrera Oria, s/n 30911 Santander, Spain.

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http://dx.doi.org/10.1016/s0379-0738(02)00228-1DOI Listing
September 2002

Does melatonin induce apoptosis in MCF-7 human breast cancer cells in vitro?

J Pineal Res 2002 Mar;32(2):90-6

Department of Physiology, School of Medicine, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1034/j.1600-079x.2002.1821.xDOI Listing
March 2002