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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

PloS one, 2017-11, Vol.12 (11), p.e0187630-e0187630

2017

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Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

PloS one, 2018-05, Vol.13 (5), p.e0197529-e0197529

2018

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Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients

Current pharmaceutical biotechnology, 2013-02, Vol.14 (2), p.194

2013

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Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis

BMC medicine, 2015-06, Vol.13 (1), p.139-139, Article 139

2015

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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

PloS one, 2017-08, Vol.12 (8), p.e0184065-e0184065

2017

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Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

PloS one, 2021-09, Vol.16 (9), p.e0251639

2021

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Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance

Gene, 2023-04, Vol.862, p.147281-147281, Article 147281

2023

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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

American journal of medical genetics. Part A, 2024-08, p.e63836

2024

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TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling

Familial cancer, 2019-10, Vol.18 (4), p.451-456

2019

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Leprosy in Southern Brazil: a twenty-year epidemiological profile

Revista da Sociedade Brasileira de Medicina Tropical, 2017-03, Vol.50 (2), p.251-255

2017

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Diagnosis and Management of Classical Homocystinuria in Brazil

Journal of inborn errors of metabolism and screening, 2018-08, Vol.6

2018

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Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

Cancer genetics, 2016-09, Vol.209 (9), p.417-422

2016

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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

Human genetics, 2023-11, Vol.142 (11), p.1571-1586

2023

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Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

Metabolic brain disease, 2009-09, Vol.24 (3), p.493-500

2009

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Inclusion of medical genetics in primary health care: report of a pilot project in Brazil

Journal of community genetics, 2013-01, Vol.4 (1), p.137-145

2013

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MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy

Arquivos de neuro-psiquiatria, 2010-08, Vol.68 (4), p.642-644

2010

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Germline mutational spectrum of Brazilian HBOC patients tested with hereditary cancer multigene panels

Journal of clinical oncology, 2016-05, Vol.34 (15_suppl), p.e13113-e13113

2016

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Prevalence of BRCA1 and BRCA2 mutations in patients fulfilling HBOC criteria in South Brazil

Journal of clinical oncology, 2015-05, Vol.33 (15_suppl), p.e12529-e12529

2015

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Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease

Arquivos de neuro-psiquiatria, 2010-10, Vol.68 (5), p.816-818

2010

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Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.357-362

2013

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Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer

PloS one, 2018-05, Vol.13 (5), p.e0197529

2018

Volltextzugriff (PDF)

Elevated holo‐transcobalamin in Gaucher disease type II: A case report

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2471-2476

2021

Volltextzugriff (PDF)

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Genetics and molecular biology, 2010-01, Vol.33 (4), p.589-604

2010

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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer

PloS one, 2017-11, Vol.12 (11), p.e0187630

2017

Volltextzugriff (PDF)

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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients

Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling

Leprosy in Southern Brazil: a twenty-year epidemiological profile

Diagnosis and Management of Classical Homocystinuria in Brazil

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

Inclusion of medical genetics in primary health care: report of a pilot project in Brazil

MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy

Germline mutational spectrum of Brazilian HBOC patients tested with hereditary cancer multigene panels

Prevalence of BRCA1 and BRCA2 mutations in patients fulfilling HBOC criteria in South Brazil

Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer

Elevated holo‐transcobalamin in Gaucher disease type II: A case report

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer

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