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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

Journal of medical genetics, 2005-04, Vol.42 (4), p.292-298

2005

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OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences

Human reproduction (Oxford), 2011-12, Vol.26 (12), p.3450-3455

2011

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Sex dimorphism of weight and length at birth: evidence based on disorders of sex development

Annals of human biology, 2022-11, Vol.49 (7-8), p.274-279

2022

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Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia

Neurology, 2004-03, Vol.62 (5), p.799

2004

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A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal

Journal of endocrinological investigation, 2005-07, Vol.28 (7), p.651-656

2005

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Congenital perineal lipoma presenting as ambiguous genitalia

European journal of pediatric surgery, 2008-08, Vol.18 (4), p.269

2008

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Fragile X syndrome. Clinical, electroencephalographic and neuroimaging characteristics

Arquivos de neuro-psiquiatria, 1998-03, Vol.56 (1), p.18-23

1998

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Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia

Journal of pediatric endocrinology & metabolism : JPEM, 2000-06, Vol.13 (6), p.605

2000

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Mental retardation, hypotrichosis and syndactyly: a new entity?

Genetic counseling, 1996, Vol.7 (1), p.47

1996

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G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome

American journal of medical genetics. Part A, 2005-07, Vol.136A (3), p.282-284

2005

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A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome

Clinical dysmorphology, 2000-07, Vol.9 (3), p.199-204

2000

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True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile

Journal of pediatric endocrinology & metabolism : JPEM, 1998-07, Vol.11 (4), p.519

1998

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Brief Report: Acrocallosal Syndrome and Autism

Journal of autism and developmental disorders, 2004-12, Vol.34 (6), p.723-726

2004

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Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome

Clinical genetics, 1997-05, Vol.51 (5), p.351-353

1997

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Spondylocarpotarsal synostosis with ocular findings

American journal of medical genetics, 2000-03, Vol.91 (2), p.131-134

2000

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Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient

American journal of medical genetics, 2000-03, Vol.91 (2), p.95-98

2000

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Short tarsus - absence of lower eyelashes: an autosomal dominant condition

Clinical genetics, 1994-11, Vol.46 (5), p.344-346

1994

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Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique

Genetic testing and molecular biomarkers, 2011-12, Vol.15 (12), p.849

2011

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Clinical Genetics in Developing Countries: The Case of Brazil

Community genetics, 2004-01, Vol.7 (2/3), p.95-105

2004

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Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

Genetics and molecular biology, 2005, Vol.28 (2), p.181-190

2005

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A case of de novo i(12p) with 12q whole-arm translocation mosaicism

American journal of medical genetics, 1989-08, Vol.33 (4), p.453-456

1989

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On macrocephaly, epilepsy, autism, specific facial features, and mental retardation

American journal of medical genetics, 2003-08, Vol.120A (4), p.564-565

2003

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Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification

Genetic testing and molecular biomarkers, 2009-10, Vol.13 (5), p.701

2009

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True agonadism: Report of a case analyzed with Y-specific DNA probes

American journal of medical genetics, 1991-12, Vol.41 (4), p.444-445

1991

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Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

Genetics and molecular biology, 2003, Vol.26 (2), p.129-131

2003

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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development

Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal

Congenital perineal lipoma presenting as ambiguous genitalia

Fragile X syndrome. Clinical, electroencephalographic and neuroimaging characteristics

Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia

Mental retardation, hypotrichosis and syndactyly: a new entity?

G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome

A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome

True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile

Brief Report: Acrocallosal Syndrome and Autism

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome

Spondylocarpotarsal synostosis with ocular findings

Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient

Short tarsus - absence of lower eyelashes: an autosomal dominant condition

Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique

Clinical Genetics in Developing Countries: The Case of Brazil

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

A case of de novo i(12p) with 12q whole-arm translocation mosaicism

On macrocephaly, epilepsy, autism, specific facial features, and mental retardation

Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification

True agonadism: Report of a case analyzed with Y-specific DNA probes

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

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