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The severity of Osteogenesis imperfecta and type I collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method

PloS one, 2013-07, Vol.8 (7), p.e69186-e69186

2013

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CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

Molecular genetics & genomic medicine, 2018-03, Vol.6 (2), p.160-170

2018

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Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I

Journal of medical ethics, 2011-04, Vol.37 (4), p.233-239

2011

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No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

Clinical dysmorphology, 2008-07, Vol.17 (3), p.181-185

2008

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Mesial temporal lobe abnormalities in a family with 15q26qter trisomy

Archives of neurology (Chicago), 2002-09, Vol.59 (9), p.1476

2002

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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Arquivos de neuro-psiquiatria, 1997-09, Vol.55 (3B), p.519-529

1997

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Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1

Arquivos de neuro-psiquiatria, 1996-09, Vol.54 (3), p.412-418

1996

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Efficacy and safety of treatment with biologicals (benralizumab, dupilumab, mepolizumab, omalizumab and reslizumab) for severe eosinophilic asthma. A systematic review for the EAACI Guidelines ‐ recommendations on the use of biologicals in severe asthma

Allergy (Copenhagen), 2020-05, Vol.75 (5), p.1023-1042

2020

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Safety of human immunisation with a live-attenuated Mycobacterium tuberculosis vaccine: a randomised, double-blind, controlled phase I trial

The lancet respiratory medicine, 2015-12, Vol.3 (12), p.953-962

2015

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Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

Proceedings of the National Academy of Sciences - PNAS, 2023-08, Vol.120 (33), p.e2300984120

2023

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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.385-394

2013

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Safety and Tolerability of SER-109 as an Investigational Microbiome Therapeutic in Adults With Recurrent Clostridioides difficile Infection: A Phase 3, Open-Label, Single-Arm Trial

JAMA network open, 2023-02, Vol.6 (2), p.e2255758-e2255758

2023

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Bioterrorism-related inhalational anthrax: the first 10 cases reported in the United States

Emerging infectious diseases, 2001-11, Vol.7 (6), p.933-944

2001

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The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility

American journal of respiratory cell and molecular biology, 2011-12, Vol.45 (6), p.1147-1153

2011

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Prevalence of diabetic peripheral neuropathy and relation to glycemic control therapies at baseline in the BARI 2D cohort

Journal of the peripheral nervous system, 2009-03, Vol.14 (1), p.1-13

2009

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Pulmonary nodular lesions in bone marrow transplant recipients: Impact of histologic diagnosis on patient management and prognosis

American journal of clinical pathology, 2004-02, Vol.121 (2), p.205-210

2004

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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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Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Arquivos de neuro-psiquiatria, 2003-06, Vol.61 (2A), p.176-180

2003

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Taste and smell in familial dysautonomia

Developmental medicine and child neurology, 1997-06, Vol.39 (6), p.393-397

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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Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)

American journal of medical genetics, 2002-12, Vol.113 (4), p.381-384

2002

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The severity of Osteogenesis imperfecta and type I collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method

CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

Mesial temporal lobe abnormalities in a family with 15q26qter trisomy

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1

Efficacy and safety of treatment with biologicals (benralizumab, dupilumab, mepolizumab, omalizumab and reslizumab) for severe eosinophilic asthma. A systematic review for the EAACI Guidelines ‐ recommendations on the use of biologicals in severe asthma

Safety of human immunisation with a live-attenuated Mycobacterium tuberculosis vaccine: a randomised, double-blind, controlled phase I trial

Efficacy and safety of treatment with dupilumab for severe asthma: A systematic review of the EAACI guidelines—Recommendations on the use of biologicals in severe asthma

Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Safety and Tolerability of SER-109 as an Investigational Microbiome Therapeutic in Adults With Recurrent Clostridioides difficile Infection: A Phase 3, Open-Label, Single-Arm Trial

Bioterrorism-related inhalational anthrax: the first 10 cases reported in the United States

The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility

Prevalence of diabetic peripheral neuropathy and relation to glycemic control therapies at baseline in the BARI 2D cohort

Pulmonary nodular lesions in bone marrow transplant recipients: Impact of histologic diagnosis on patient management and prognosis

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

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Taste and smell in familial dysautonomia

Spondylocarpotarsal synostosis with ocular findings

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)

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