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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Journal of medical genetics, 2004-06, Vol.41 (6), p.433-439

2004

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Three decades of occupational individual monitoring at the University of São Paulo

Radiation protection dosimetry, 2017-12, Vol.177 (3), p.285-288

2017

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Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

Journal of medical genetics, 2005-12, Vol.42 (12), p.e70-e70

2005

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Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

Journal of medical genetics, 2000-11, Vol.37 (11), p.e35-35

2000

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Activating and inactivating mutations in the human GNAS1 gene

Human mutation, 2000-09, Vol.16 (3), p.183-189

2000

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The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations

Human molecular genetics, 2013-09, Vol.22 (18), p.3667-3679

2013

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How safe is ERCP to the endoscopist ?

Surgical endoscopy, 1997-06, Vol.11 (6), p.615-617

1997

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A54 GENETICS AND EPIGENETIC: The Effect Of Tgf-[Beta] Upregulation On Smad-Mediated Microrna Biogenesis In Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2015-01, Vol.191, p.1

2015

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A110 LATE BREAKING ABSTRACTS IN DISEASE SUSCEPTIBILITY AND PATHOGENESIS: Distribution Of A Functionally Significant Somatic Deletion Of Chromosome 13 In The Lung Of Associated Pulmonary Arterial Hypertension Suggests An Early Developmental Origin

American journal of respiratory and critical care medicine, 2014-01, Vol.189, p.1

2014

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A54 GENETICS AND EPIGENETIC: Increased Susceptibility To Dna Damaging Agents In Pulmonary Arterial Hypertension Patients And Their Relatives

American journal of respiratory and critical care medicine, 2015-01, Vol.191, p.1

2015

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Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas

Oncogene, 2003-05, Vol.22 (22), p.3412-3416

2003

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Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred

Journal of medical genetics, 1991-07, Vol.28 (7), p.453-457

1991

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B27 MITOCHONDRIA AND METABOLIC DYSFUNCTION IN PULMONARY HYPERTENSION: Mitochondrial Haplogroups In Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2014-01, Vol.189, p.1

2014

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C53 CLINICAL EVALUATION AND BIOMARKERS OF PULMONARY HYPERTENSION II: Levels Of Dna Damage Are Systemically Elevated In Patients With Pulmonary Arterial Hypertension And Can Be Suppressed With N-Acetylcysteine

American journal of respiratory and critical care medicine, 2014-01, Vol.189, p.1

2014

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The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations

Human molecular genetics, 2013-12, Vol.22 (25), p.5296-5296

2013

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PCR detection of existing and new polymorphism at the TIMP locus

Nucleic acids research, 1991-03, Vol.19 (5), p.1165-1165

1991

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Linkage analysis-in a family with complete type congenital stationary night blindness with and without myopia

Clinical genetics, 1993-05, Vol.43 (5), p.250-254

1993

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Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci

Journal of medical genetics, 1994-11, Vol.31 (11), p.848-852

1994

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Genetic Classification of Benign and Malignant Thyroid Follicular Neoplasia Based on a Three-Gene Combination

The journal of clinical endocrinology and metabolism, 2005-05, Vol.90 (5), p.2512-2521

2005

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Transforming growth factor-β receptor mutations and pulmonary arterial hypertension in childhood

Circulation (New York, N.Y.), 2005-02, Vol.111 (4), p.435-441

2005

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Papillary and Follicular Thyroid Carcinomas Show Distinctly Different Microarray Expression Profiles and Can Be Distinguished by a Minimum of Five Genes

Journal of clinical oncology, 2004-09, Vol.22 (17), p.3531-3539

2004

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Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension

Circulation (New York, N.Y.), 2005-02, Vol.111 (5), p.607-613

2005

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Characterization of the BMPR2 5'-Untranslated Region and a Novel Mutation in Pulmonary Hypertension

American journal of respiratory and critical care medicine, 2007-10, Vol.176 (8), p.819-824

2007

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Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)

Human molecular genetics, 1995-12, Vol.4 (12), p.2347-2353

1995

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Silencing of the Maternally Imprinted Tumor Suppressor ARHI Contributes to Follicular Thyroid Carcinogenesis

The journal of clinical endocrinology and metabolism, 2005-02, Vol.90 (2), p.1149-1155

2005

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Three decades of occupational individual monitoring at the University of São Paulo

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

Activating and inactivating mutations in the human GNAS1 gene

The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations

How safe is ERCP to the endoscopist ?

A54 GENETICS AND EPIGENETIC: The Effect Of Tgf-[Beta] Upregulation On Smad-Mediated Microrna Biogenesis In Pulmonary Arterial Hypertension

A110 LATE BREAKING ABSTRACTS IN DISEASE SUSCEPTIBILITY AND PATHOGENESIS: Distribution Of A Functionally Significant Somatic Deletion Of Chromosome 13 In The Lung Of Associated Pulmonary Arterial Hypertension Suggests An Early Developmental Origin

A54 GENETICS AND EPIGENETIC: Increased Susceptibility To Dna Damaging Agents In Pulmonary Arterial Hypertension Patients And Their Relatives

Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas

Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred

B27 MITOCHONDRIA AND METABOLIC DYSFUNCTION IN PULMONARY HYPERTENSION: Mitochondrial Haplogroups In Pulmonary Arterial Hypertension

C53 CLINICAL EVALUATION AND BIOMARKERS OF PULMONARY HYPERTENSION II: Levels Of Dna Damage Are Systemically Elevated In Patients With Pulmonary Arterial Hypertension And Can Be Suppressed With N-Acetylcysteine

The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations

PCR detection of existing and new polymorphism at the TIMP locus

Linkage analysis-in a family with complete type congenital stationary night blindness with and without myopia

Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci

Genetic Classification of Benign and Malignant Thyroid Follicular Neoplasia Based on a Three-Gene Combination

Transforming growth factor-β receptor mutations and pulmonary arterial hypertension in childhood

Papillary and Follicular Thyroid Carcinomas Show Distinctly Different Microarray Expression Profiles and Can Be Distinguished by a Minimum of Five Genes

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension

Characterization of the BMPR2 5'-Untranslated Region and a Novel Mutation in Pulmonary Hypertension

Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)

Silencing of the Maternally Imprinted Tumor Suppressor ARHI Contributes to Follicular Thyroid Carcinogenesis

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