Publications by authors named "Yolanda Martin"

30Publications

Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.

Mol Genet Genomic Med 2020 Aug 13;8(8):e1321. Epub 2020 Jun 13.

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

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http://dx.doi.org/10.1002/mgg3.1321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434601PMC
August 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Polyvinyl alcohol cryogel phantoms of biological tissues for wideband operation at microwave frequencies.

PLoS One 2019 25;14(7):e0219997. Epub 2019 Jul 25.

IACTec Medical Technology Group, Instituto de Astrofísica de Canarias (IAC), La Laguna, Santa Cruz de Tenerife, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0219997PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657873PMC
March 2020

Spanish survey on follow-up programmes for children born very preterm.

Acta Paediatr 2019 06 14;108(6):1042-1048. Epub 2018 Dec 14.

Division of Neonatology, University and Polytechnic Hospital La Fe, Valencia, Spain.

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http://doi.wiley.com/10.1111/apa.14647
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http://dx.doi.org/10.1111/apa.14647DOI Listing
June 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

PLoS One 2015 28;10(10):e0141735. Epub 2015 Oct 28.

Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0141735PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624989PMC
June 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

Two-weekly dose-adjusted (DA)-EPOCH-like chemotherapy with high-dose dexamethasone plus rituximab (DA-EDOCH14-R) in poor-prognostic untreated diffuse large B-cell lymphoma.

Br J Haematol 2013 Feb 11;160(4):510-4. Epub 2012 Dec 11.

Haematology Service, Department of Medicine, Príncipe de Asturias University Hospital, University of Alcalá, Alcalá de Henares, Madrid, Spain.

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http://dx.doi.org/10.1111/bjh.12144DOI Listing
February 2013

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.

Neurogenetics 2012 Aug 1;13(3):267-74. Epub 2012 Jul 1.

Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto de Investigación Sanitaria, Ctra Colmenar km 9.1, 28034 Madrid, Spain.

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http://dx.doi.org/10.1007/s10048-012-0335-8DOI Listing
August 2012

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.

BMC Cancer 2010 Aug 5;10:407. Epub 2010 Aug 5.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria and Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Spain.

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http://dx.doi.org/10.1186/1471-2407-10-407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924852PMC
August 2010

Satisfaction of patients with mechanical neck disorders attended to by primary care physical therapists.

J Eval Clin Pract 2010 Jun 10;16(3):445-50. Epub 2010 Mar 10.

Preventive Medicine and Public Health Specialist, Gerencia Atención Primaria Area 7, Madrid, Spain.

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http://dx.doi.org/10.1111/j.1365-2753.2009.01138.xDOI Listing
June 2010

Acute subdural hematoma secondary to distal middle cerebral artery aneurysm rupture in a newborn infant.

J Neurosurg Pediatr 2009 May;3(5):435-8

Department of Neurosurgery, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.3171/2009.1.PEDS08176DOI Listing
May 2009

Comparing methods of determining addition in presbyopes.

Clin Exp Optom 2008 May;91(3):313-8

Department of Optics II (Optometry and Vision), Universidad Complutense, Madrid, Spain.

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http://dx.doi.org/10.1111/j.1444-0938.2007.00159.xDOI Listing
May 2008

Dietary fat type (virgin olive vs. sunflower oils) affects age-related changes in DNA double-strand-breaks, antioxidant capacity and blood lipids in rats.

Exp Gerontol 2004 Aug;39(8):1189-98

Department of Physiology, Institute of Nutrition and Food Technology, University of Granada, C/Ramón y Cajal 4 Edificio Fray Luis, Granada 18071, Spain.

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http://dx.doi.org/10.1016/j.exger.2004.05.002DOI Listing
August 2004

Ageing-related tissue-specific alterations in mitochondrial composition and function are modulated by dietary fat type in the rat.

J Bioenerg Biomembr 2002 Dec;34(6):517-24

Department of Physiology, Institute of Nutrition and Food Technology, University of Granada, C/Ramón y Cajal 4, 18071 Granada, Spain.

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http://dx.doi.org/10.1023/a:1022530512096DOI Listing
December 2002

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.

Hum Genet 2002 Mar 8;110(3):257-63. Epub 2002 Feb 8.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Crta. Colmenar Km. 9,1, 28034 Madrid, Spain.

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http://dx.doi.org/10.1007/s00439-002-0681-yDOI Listing
March 2002