S. Arias

发表

IVIC syndrome Is caused by a c.2607delA mutation in the SALL4 locus

I. Paradisi, S. Arias, 2007, American journal of medical genetics. Part A.

The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.

J. Opitz, V. Penchaszadeh, S. Arias, 1980, American journal of medical genetics.

Probable loose linkage between the AB0 locus and Waardenburg syndrome type I

S. Arias, M. Mota, Aurora de Yánez, 1975, Humangenetik.

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent

I. Paradisi, S. Arias, Vassiliki Ikonomu, 2015, Journal of Human Genetics.

Genetic heterogeneity in the Waardenburg syndrome.

S. Arias, 1971, Birth defects original article series.

Consanguinity in colonia tovar, a Venezuelan isolate of German origin (1843–1977)

S. Arias, J. Pinto-Cisternas, L. Pineda, 1985 .

Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin

I. Paradisi, S. Arias, Vassiliki Ikonomu, 2012, Journal of Human Genetics.

BIOMEDICINA ALLELIC FREQUENCIES FOR ALA 213 / VAL 213 POLYMORPHISM OF THE PI ( ALPHA-1-ANTITRYPSIN ) LOCUS IN A MOUNTAINOUS REGION OF MÉRIDA – VENEZUELA

Elvis, F., Pérez, 2015 .

ALLELIC FREQUENCIES FOR ALA213/VAL213 POLYMORPHISM OF THE PI (ALPHA-1-ANTITRYPSIN) LOCUS IN A MOUNTAINOUS REGION OF MÉRIDA–VENEZUELA. ESTIMATION OF THE CAUCASOID CONTRIBUTION

S. Arias, T. Fonseca, Mercedes González, 2009 .

Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes

I. Paradisi, S. Arias, Y. Yépez, 2020, Egyptian Journal of Medical Human Genetics.

GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies

I. Paradisi, S. Arias, G. Gómez, 2017, Journal of Genetics.

Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia.

I. Paradisi, S. Arias, Alba Hernández, 2010, Investigacion clinica.

PI locus (alpha-1-antitrypsin) allelic frequencies in an Andean Venezuelan population.

M. González-Coira, S. Arias, T. Fonseca-Pérez, 1996, Gene geography : a computerized bulletin on human gene frequencies.

Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate

I. Paradisi, S. Arias, D. Kanzler, 2021, Egyptian Journal of Medical Human Genetics.

Mutations of PAX3 unlikely in Waardenburg syndrome type 2

S. Arias, 1993, Nature Genetics.

Waardenburg syndrome--two distinct types.

S. Arias, 1980, American journal of medical genetics.

Waardenburg's syndrome.

S. Arias, 1980, Journal of medical genetics.

Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum.

S. Arias, M. Mota, 1978, Journal de genetique humaine.

Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation

I. Paradisi, S. Arias, Alba Hernández, 2008, Journal of Human Genetics.

Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

I. Paradisi, S. Arias, L. de Freitas, 2015, European journal of medical genetics.

Most Martin–Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity

I. Paradisi, S. Arias, Yasser Vega, 2016, Journal of Human Genetics.

Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Z. Layrisse, E. Yunis, C. Alper, 2004, Immunogenetics.

Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations

I. Paradisi, S. Arias, 2010, Journal of Inherited Metabolic Disease.

Diagnosis and penetrance of dystopia canthorum in Waardenburg syndrome type I (WS1)

S. Arias, 1984, American journal of medical genetics.

A Note on the Attempt to Ascertain Inbreeding through Dermatoglyphics

S. Arias, 1971 .

GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies

I. Paradisi, S. Arias, G. Gómez, 2017, Journal of Genetics.

Current status of the ABO-Waardenburg syndrome type I linkage.

S. Arias, M. Mota, 1978, Cytogenetics and cell genetics.

Inherited congenital profound deafness in a genetic isolate.

S. Arias, 1974, Birth defects original article series.

Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia.

I. Paradisi, S. Arias, Alba Hernández, 2010, Investigacion clinica.