Julian Nevado

Julian Nevado

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Julian Nevado

Julian Nevado

Publications by authors named "Julian Nevado"

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Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

Am J Med Genet A 2019 Aug 12;179(8):1525-1530. Epub 2019 Jun 12.

Department of Molecular Medicine, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61259DOI Listing
August 2019

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.

Appl Clin Genet 2019 30;12:141-150. Epub 2019 Jul 30.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia.

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http://dx.doi.org/10.2147/TACG.S190661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679697PMC
July 2019

Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.

J Allergy Clin Immunol Pract 2017 Jul - Aug;5(4):1146-1148. Epub 2017 Mar 21.

Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jaip.2017.01.018DOI Listing
June 2019

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Clin Genet 2019 Jun 29;95(6):726-731. Epub 2019 Apr 29.

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.

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http://doi.wiley.com/10.1111/cge.13504
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http://dx.doi.org/10.1111/cge.13504DOI Listing
June 2019

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.

Mol Genet Genomic Med 2019 04 19;7(4):e00568. Epub 2019 Feb 19.

La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/mgg3.568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465731PMC
April 2019

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Rev Esp Cardiol (Engl Ed) 2018 Jul 14;71(7):545-552. Epub 2017 Nov 14.

Instituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Unidad de Genética Clínica, Hospital Universitario HM Montepríncipe, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2017.10.013DOI Listing
July 2018

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

Eur J Med Genet 2018 Jul 22;61(7):393-398. Epub 2018 Feb 22.

Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173068
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http://dx.doi.org/10.1016/j.ejmg.2018.02.007DOI Listing
July 2018

[16p11.2 Microdeletion: first report in Argentina].

Arch Argent Pediatr 2017 Dec;115(6):e449-e453

Centro Nacional de Genética Médica "Dr. Eduardo E. Castilla", Ciudad Autónoma de Buenos Aires.

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http://dx.doi.org/10.5546/aap.2017.e449DOI Listing
December 2017

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

PLoS One 2017 23;12(2):e0172363. Epub 2017 Feb 23.

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172363PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952PMC
August 2017

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.

BMC Med Genet 2017 08 31;18(1):97. Epub 2017 Aug 31.

Nephrology Department, La Paz University Hospital, IdiPAZ, Autonomous University, Madrid, Spain.

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http://dx.doi.org/10.1186/s12881-017-0457-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579934PMC
August 2017

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Mol Syndromol 2017 Jan 17;8(1):30-35. Epub 2016 Nov 17.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Multidisciplinary Unit for Skeletal Dysplasias (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Hospital Universitario Doce de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1159/000452609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260510PMC
January 2017

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

Clin Endocrinol (Oxf) 2016 10 12;85(4):673-5. Epub 2016 Jul 12.

Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/cen.13126DOI Listing
October 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

Am J Med Genet A 2016 Apr 11;170A(4):986-91. Epub 2016 Jan 11.

Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/ajmg.a.37532DOI Listing
April 2016

New microdeletion and microduplication syndromes: A comprehensive review.

Genet Mol Biol 2014 Mar;37(1 Suppl):210-9

Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain . ; Section of Molecular Endocrinology, Overgrowth Disordes Laboratory, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983590PMC
March 2014

A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.

Int Urol Nephrol 2013 Dec 21;45(6):1767-71. Epub 2012 Jul 21.

Servicio de Nefrología, Hospital Universitario La Paz. IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain,

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http://dx.doi.org/10.1007/s11255-012-0246-5DOI Listing
December 2013

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Am J Med Genet A 2013 Aug 24;161A(8):1950-60. Epub 2013 Jun 24.

Section of Functional and Structural Genomics of Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35960DOI Listing
August 2013

Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients.

Genet Mol Biol 2012 Dec 9;35(4):714-24. Epub 2012 Nov 9.

Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil. ; Programa de Genética, Instituto Nacional de Câncer, Rio de Janeiro, RJ, Brazil.

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http://dx.doi.org/10.1590/S1415-47572012005000073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526076PMC
December 2012

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

Am J Med Genet A 2012 Nov 17;158A(11):2963-8. Epub 2012 Sep 17.

Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35595DOI Listing
November 2012

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.

Am J Med Genet A 2011 Apr 15;155A(4):915-9. Epub 2011 Mar 15.

AbaCid-Genética, Grupo Hospital de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.33924DOI Listing
April 2011

Endogenous protection against oxidative stress caused by cisplatin: role of superoxide dismutase.

Acta Otolaryngol 2010 Apr;130(4):453-7

Servicio de Otorrinolaringología, Instituto Oncológico Kutxa-Onkologikoa, Paseo Dr Begiristain 119, San Sebastián, Guipúzcoa.

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http://dx.doi.org/10.3109/00016480903311203DOI Listing
April 2010

The deleterious effect of high concentrations of D-glucose requires pro-inflammatory preconditioning.

J Hypertens 2008 Mar;26(3):478-85

Departamento de Farmacología y Terapéutica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain.

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http://dx.doi.org/10.1097/HJH.0b013e3282f331fbDOI Listing
March 2008

Activation of the human immunodeficiency virus type I long terminal repeat by 1 alpha,25-dihydroxyvitamin D3.

J Mol Endocrinol 2007 Jun;38(6):587-601

Instituto de Investigaciones Biomédicas--Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1677/JME-06-0065DOI Listing
June 2007

Ageing evokes an intrinsic pro-apoptotic signalling pathway in rat cochlea.

Acta Otolaryngol 2006 Dec;126(11):1134-9

Unidad de Investigación, Hospital Universitario de Getafe, Madrid, Spain.

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http://dx.doi.org/10.1080/00016480600672592DOI Listing
December 2006

hSrb7, an essential human Mediator component, acts as a coactivator for the thyroid hormone receptor.

Mol Cell Endocrinol 2004 Jul;222(1-2):41-51

Unidad de Investigación, Hospital Universitario de Getafe, 28905 Getafe, Madrid, Spain.

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http://dx.doi.org/10.1016/j.mce.2004.05.003DOI Listing
July 2004

Glycosylated human oxyhaemoglobin activates nuclear factor-kappaB and activator protein-1 in cultured human aortic smooth muscle.

Br J Pharmacol 2003 Oct 22;140(4):681-90. Epub 2003 Sep 22.

Departamento de Farmacología y Terapéutica, Facultad de Medicina, Universidad, Autónoma de Madrid, c/Arzobispo Morcillo 4, Madrid 28029, Spain.

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http://dx.doi.org/10.1038/sj.bjp.0705483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1574072PMC
October 2003

The TBP-inhibitory domain of TAF145 limits the effects of nonclassical transcriptional activators.

Curr Biol 2002 Jun;12(11):934-7

Molecular Biology Program, Sloan-Kettering Institute, New York, NY 10021, USA.

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http://dx.doi.org/10.1016/s0960-9822(02)00866-7DOI Listing
June 2002