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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Nature genetics, 2005-04, Vol.37 (4), p.353-355

2005

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Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

American journal of human genetics, 2003-03, Vol.72 (3), p.728-732

2003

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

Nature (London), 1992-02, Vol.355 (6361), p.637-638

1992

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van den Ende–Gupta syndrome: Evidence for genetic heterogeneity

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1293-1295

2009

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Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

American journal of medical genetics. Part A, 2008-04, Vol.146A (8), p.1059-1062

2008

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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Human mutation, 2000-10, Vol.16 (4), p.315-322

2000

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An unusual family with brachydactyly

American journal of medical genetics, 2003-03, Vol.117A (2), p.191-193

Silva, Elias O.

2003

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The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Genomics (San Diego, Calif.), 1996-07, Vol.35 (1), p.1-5

1996

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High mutation detection rate inTCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Human mutation, 2000-10, Vol.16 (4), p.315-322

2000

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Oto‐facio‐osseous‐gonadal syndrome: a new form of syndromic deafness?

Clinical genetics, 1997-07, Vol.52 (1), p.51-55

1997

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Craniofacial anthropometric studies in Waardenburg syndrome type I

Clinical genetics, 1993-07, Vol.44 (1), p.20-25

1993

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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

Human genetics, 1998-05, Vol.102 (5), p.499-506

1998

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Multiple synostosis syndrome: Study of a large Brazilian kindred

American journal of medical genetics, 1984-06, Vol.18 (2), p.237-247

1984

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Poland anomaly with foot symbrachydactyly

American journal of medical genetics, 2002-05, Vol.109 (4), p.333-334

2002

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Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred

Journal of medical genetics, 1999-09, Vol.36 (9), p.714-718

1999

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Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review

American journal of medical genetics, 1991-07, Vol.40 (1), p.65-74

Da-Silva, Elias O.

1991

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Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs

American journal of medical genetics, 1988-04, Vol.29 (4), p.837-843

1988

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Causes of pre-verbal deafness in an institutionalized population, emphasizing genetic etiology

Jornal de pediatria, 1997-07, Vol.73 (4), p.239-243

1997

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Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

Jornal de pediatria, 1999-09, Vol.75 (5), p.367-9

1999

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van den Ende-Gupta syndrome: Evidence for genetic heterogeneity

American Journal of Medical Genetics Part A, 2009, Vol.149A (6), p.1293-1295

2009

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Genetic deafness: a brief review

Jornal de pediatria, 1995-11, Vol.71 (6), p.297-302

1995

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Preaxial polydactyly and other defects associated with Klippel-Feil anomaly

Human heredity, 1993-11, Vol.43 (6), p.371-374

da-Silva, E O

1993

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A new case of the acromegaloid facial appearance syndrome?

Clinical dysmorphology, 1998-01, Vol.7 (1), p.75-76

1998

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Cockayne syndrome in two brothers

Jornal de pediatria, 1995-11, Vol.71 (6), p.344-348

1995

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Osteoporose induzida por uso de glicocorticóides e seus aspectos fisiopatológicos associados ao acometimento do tecido ósseo

International Journal of Development Research, 2022-03, p.54584-54588

Gustavo Hermilo Aguiar Macedo, Matheus Santos Marques, Iago Oliveira Braga, Amanda Carvalho de Lorenzo Barcia, João Pedro da Fonseca Sarmento, Vivian Pena Della Mea, Gabriela Ten Caten Oliveira, Sergio Fernando Lozano Chiquillo, Ryad Fayez Mehanna, Vinícius Dino Pozzebon, Maria Eugênia Carbonaro Silva, Maria Fernanda Carbonaro Silva, Victor Arantes Pinto, Vitória Elias Duarte, Irleide Soares da Silva and Pedro Gonçalves Carlos

2022

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

van den Ende–Gupta syndrome: Evidence for genetic heterogeneity

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

An unusual family with brachydactyly

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

High mutation detection rate inTCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Oto‐facio‐osseous‐gonadal syndrome: a new form of syndromic deafness?

Craniofacial anthropometric studies in Waardenburg syndrome type I

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

Multiple synostosis syndrome: Study of a large Brazilian kindred

Poland anomaly with foot symbrachydactyly

Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred

Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review

Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs

Causes of pre-verbal deafness in an institutionalized population, emphasizing genetic etiology

Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

van den Ende-Gupta syndrome: Evidence for genetic heterogeneity

Genetic deafness: a brief review

Preaxial polydactyly and other defects associated with Klippel-Feil anomaly

A new case of the acromegaloid facial appearance syndrome?

Cockayne syndrome in two brothers

Osteoporose induzida por uso de glicocorticóides e seus aspectos fisiopatológicos associados ao acometimento do tecido ósseo

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