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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

American journal of human genetics, 2004-11, Vol.75 (5), p.822-831

2004

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Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate

Child neuropsychology, 2021-01, Vol.27 (1), p.2-16

2021

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Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2170-2177

2019

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Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3164-3172

2010

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Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1688-1694

2010

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Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling

Human mutation, 2018-10, Vol.39 (10), p.1416-1427

2018

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22q11.2 deletion syndrome in diverse populations

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.879-888

2017

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Down syndrome in diverse populations

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.42-53

2017

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GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2571-2576

2006

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Sonic hedgehog ( SHH ) mutation in patients within the spectrum of holoprosencephaly

Brain & development (Tokyo. 1979), 2010-03, Vol.32 (3), p.217-222

2010

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Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

Molecular genetics and genomics : MGG, 2015-12, Vol.290 (6), p.2213-2216

2015

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Variable phenotypic manifestations of a K44N mutation in the TGIF gene

Brain & development (Tokyo. 1979), 2008-03, Vol.30 (3), p.203-205

2008

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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

American journal of human genetics, 2011-07, Vol.89 (1), p.44-55

2011

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Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.149-157

2010

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Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome

The Journal of craniofacial surgery, 2018-09, Vol.29 (6), p.1596-1600

2018

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Birth defects in Brazil: Outcomes of a population-based study

Genetics and molecular biology, 2020-01, Vol.43 (1), p.e20180186-e20180186

2020

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Nature genetics, 1999-06, Vol.22 (2), p.196-198

1999

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Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2134-2137

2008

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Waardenburg syndrome: Clinical differentiation between types I and II

American journal of medical genetics, 2003-03, Vol.117A (3), p.223-235

2003

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A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.2088-2094

2013

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Mandibulofacial dysostosis Bauru type: Refining the phenotype

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1747-1753

2017

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Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.320-325

2007

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Cover Image, Volume 173A, Number 9, September 2017

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.i-i

2017

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Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso

CoDAS (São Paulo), 2016-12, Vol.28 (6), p.823-827

2016

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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling

22q11.2 deletion syndrome in diverse populations

Down syndrome in diverse populations

GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?

Sonic hedgehog ( SHH ) mutation in patients within the spectrum of holoprosencephaly

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome

Birth defects in Brazil: Outcomes of a population-based study

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient

Waardenburg syndrome: Clinical differentiation between types I and II

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

Mandibulofacial dysostosis Bauru type: Refining the phenotype

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Cover Image, Volume 173A, Number 9, September 2017

Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso

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