C. Villarroel

发表

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification

R. Desnick, C. Durán-McKinster, D. Cervantes-Barragán, 2011, Journal of Medical Genetics.

Frequent copy number variants in a cohort of Mexican-Mestizo individuals

A. Carnevale, A. Martinez-Hernandez, S. Frías, 2023, Molecular Cytogenetics.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

C. Villanueva-Mendoza, J. Zenteno, C. E. Villarroel, 2018, Journal of Human Genetics.

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

S. Frías, E. Yokoyama, C. E. Villarroel, 2020, Molecular cytogenetics.

[First two Mexican cases of monosomy 1p36: possible diagnosis in patients with mental retardation and dysmorphism].

A. González-del Angel, S. Ramos, Laura Gómez-Laguna, 2011, Archivos argentinos de pediatria.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

J. Ganesh, P. Robinson, S. Mundlos, 2015, American journal of human genetics.

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

H. Mora-Montes, C. E. Villarroel, R. Salinas-Marín, 2021, Molecular genetics and metabolism reports.

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

J. Zenteno, O. Chacon-Camacho, Tania Barragán-Arévalo, 2020, European journal of medical genetics.

University of Groningen Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Fischer-Zirnsak,

J. Ganesh, P. Robinson, S. Mundlos, 2022 .

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

C. E. Villarroel, P. Pérez-Vera, C. Salas-Labadía, 2021, European Journal of Medical Genetics.

Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction

J. Castrillo, S. Frías, Leda Torres, 2014, American journal of medical genetics. Part A.

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

L. Orozco, C. Villanueva-Mendoza, D. F. Jiménez, 2008, Molecular vision.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

C. Villanueva-Mendoza, J. Zenteno, C. E. Villarroel, 2018, Journal of Human Genetics.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

Paula Leal-Anaya, L. Fernández-Hernández, N. López-Santiago, 2024, Frontiers in genetics.