Search Results - "Da Silva, Elias O."

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome by Baldwin, Clinton T, Hoth, Christopher F, Amos, Jean A, da-Silva, Elias O, Milunsky, Aubrey

“…Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This…”
Get full text

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16 by Polymeropoulos, Mihael H., Ide, Susan E., Wright, Michael, Goodship, Judith, Weissenbach, Jean, Pyeritz, Reed E., Da Silva, Elias O., Ortiz De Luna, Rosa Isela, Francomano, Clair A.

“…Ellis–van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This…”
Get full text

Oto‐facio‐osseous‐gonadal syndrome: a new form of syndromic deafness? by Da‐Silva, Elias O., Duarte, Andréa R., Lins, Thereza S. S.

“…In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal…”
Get full text

Multiple synostosis syndrome: study of a large Brazilian kindred by da-Silva, E O, Filho, S M, de Albuquerque, S C

“…We report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and…”
Get more information

Craniofacial anthropometric studies in Waardenburg syndrome type I by da-Silva, E O, Batista, J E, Medeiros, M A, Fonteles, S M

“…A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A…”
Get more information

Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs by da-Silva, E O

“…This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation,…”
Get more information

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations by DESTEFANO, A. L, CUPPLES, L. A, LALWANI, A. K, MILUNSKY, A, NANCE, W. E, PANDYA, A, RAMESAR, R. S, READ, A. P, TASSABEJHI, M, WILCOX, E. R, FARRER, L. A, ARNOS, K. S, ASHER, J. H, BALDWIN, C. T, BLANTON, S, CAREY, M. L, DA SILVA, E. O, FRIEDMAN, T. B, GREENBERG, J

“…Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and…”
Get full text

Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review by da-Silva, E O

“…Two large kindreds with Waardenburg I syndrome are described. The total number of affected individuals is 73. The major manifestations are telecanthus (the…”
Get more information

A new case of the acromegaloid facial appearance syndrome? by da-Silva, E O, Duarte, A R, Andrade, E J, Furtado, G J

“…An apparently new case of the acromegaloid facial appearance syndrome is reported. The main clinical findings were coarse facies and thickened lips, oral…”
Get more information

Preaxial polydactyly and other defects associated with Klippel-Feil anomaly by da-Silva, E O

“…A 5-year-old girl with Klippel-Feil anomaly and bimanual polydactyly of triphalangeal thumb is described. The main findings include--in addition to the…”
Get more information

The hypertelorism-hypospadias syndrome by da Silva, E O

Get more information

Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred by LEAL, GABRIELA F, DA-SILVA, ELIAS O

“…On immunohistochemical staining of frozen muscle sections using double labelling reactions for dystrophin + [GAMMA]-SG, α-SG + β-SG, and [GAMMA]-SG + δ-SG,…”
Get full text

The Roberts syndrome by da Silva, E O, Bezerra, L H

Get full text

Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness? by Da-Silva, Elias O., Duarte, Andréa R., Lins, Thereza S. S.

Get full text