Publications by authors named "Concepcion Hernández-Chico"

19Publications

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

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
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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

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Neuromuscul Disord 2018 03 11;28(3):208-215. Epub 2018 Jan 11.

Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), 08035 Barcelona, Spain; CB06/07/0011 group, CIBERER, Barcelona, Spain; Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, 08035 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.01.003DOI Listing
March 2018

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

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

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.

Neuromuscul Disord 2011 Jun 4;21(6):413-9. Epub 2011 May 4.

Servicio de Genética, Hospital de la Santa Creu i Sant Pau, and CIBERER U-705, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2011.03.009DOI Listing
June 2011

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

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

Proc Natl Acad Sci U S A 2008 Nov 18;105(47):18608-13. Epub 2008 Nov 18.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Centro de Investigación Biomédica de Enfermedades Raras, ISCIII, 28034 Madrid, Spain.

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http://dx.doi.org/10.1073/pnas.0805831105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584577PMC
November 2008

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