Y. Martín

发表

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases

C. Hernández-Chico, Y. Martín, I. Cusco, 2001, Human Genetics.

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

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

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

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

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

M. C. Valero, C. Hernández-Chico, Y. Martín, 2010, BMC Cancer.

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

C. Hernández-Chico, Y. Martín, G. Meleán, 2012, neurogenetics.

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

C. Hernández-Chico, Y. Martín, E. del Castillo, 2002, Human Genetics.

The X‐linked IAP gene does not contribute to the clinical phenotype of spinal muscular atrophy

J. López-Terradas, C. Hernández-Chico, Y. Martín, 2000, Clinical genetics.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

A. Pandya, C. Petit, D. Weil, 2005, Journal of Medical Genetics.

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

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1

C. Hernández-Chico, Y. Martín, B. Campos, 2013, Clinical genetics.

Progress and challenges in developing a molecular diagnostic test for neurofibromatosis type 1

A. Dopazo, C. Hernández-Chico, Y. Martín, 2011, Expert review of molecular diagnostics.

A highly sensitive genetic protocol to detect NF1 mutations.

M. C. Valero, C. Hernández-Chico, D. Tellería, 2011, The Journal of molecular diagnostics : JMD.

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

Marco Baralle, M. Baralle, L. De Conti, 2015, PloS one.

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)

F. Moreno, Y. Martín, C. Morera, 2003, Human mutation.

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

S. Bonache, E. Serra, C. Hernández-Chico, 2022, Journal of Medical Genetics.

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

E. Aller, J. Millán, S. Borrego, 2009, Human Genetics.

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss

F. Moreno, Y. Martín, R. Ramírez‐Camacho, 2003, Journal of medical genetics.

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

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

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

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

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

Y. Martín, G. Meleán, E. Hernández-Imaz, 2012, Neurogenetics.