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Concepcion Hernandez-Chico

Explore the profile of Concepcion Hernandez-Chico including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 20
Citations 726
Followers 0
Related Specialties
Genetics
Neurology
Molecular Biology
Top 10 Co-Authors
Yolanda Martin
Eduardo F Tizzano
Elizabeth Siqveland
Eric Legius
Alicia Gomes
Tom Callens
Angela Sharp
Yunjia Chen
Sandra Janssens
Elaine Zackai
Published In
Hum Genet
Hum Mutat
Genet Med
Neuromuscul Disord
BMC Cancer
Affiliations
Soon will be listed here.
Recent Articles
1.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, et al.
J Med Genet . 2022 Feb; 59(10):1017-1023. PMID: 35121649
Methods: 829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1. Genotyping and segregation analysis of familial variants was determined...
2.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks A, Sharp A, et al.
Hum Mutat . 2019 Oct; 41(1):299-315. PMID: 31595648
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort,...
3.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Estan M, Fernandez-Nunez E, Zaki M, Esteban M, Donkervoort S, Hawkins C, et al.
Nat Commun . 2019 Feb; 10(1):797. PMID: 30770808
FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that...
4.
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
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks A, et al.
Genet Med . 2018 Oct; 21(3):764-765. PMID: 30275510
A correction has been published to this Article. The PDF and HTML have been updated accordingly.
5.
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
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks A, et al.
Genet Med . 2018 Sep; 21(4):867-876. PMID: 30190611
Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the...
6.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Calucho M, Bernal S, Alias L, March F, Vencesla A, Rodriguez-Alvarez F, et al.
Neuromuscul Disord . 2018 Feb; 28(3):208-215. PMID: 29433793
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are classified...
7.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, et al.
Am J Hum Genet . 2018 Jan; 102(1):69-87. PMID: 29290338
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype...
8.
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing
Hernandez-Imaz E, Martin Y, De Conti L, Melean G, Valero A, Baralle M, et al.
PLoS One . 2015 Oct; 10(10):e0141735. PMID: 26509978
Neurofibromatosis type 1 (NF1) is one of the most common human hereditary disorders, predisposing individuals to the development of benign and malignant tumors in the nervous system, as well as...
9.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, et al.
Hum Mutat . 2015 Jul; 36(11):1052-63. PMID: 26178382
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive...
10.
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain
Tejada M, Glover G, Martinez F, Guitart M, de Diego-Otero Y, Fernandez-Carvajal I, et al.
Biomed Res Int . 2014 Jul; 2014:195793. PMID: 24987673
Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic...