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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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Alveolar Epithelial Cells Up-Regulate microRNA-17 & microRNA-548b in Response to Cold Ischemia - Ex Vivo Reperfusion of Human Lungs

The Journal of heart and lung transplantation, 2020-04, Vol.39 (4), p.S478-S478

2020

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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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Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

American journal of human genetics, 1994-07, Vol.55 (1), p.105-111

1994

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Sleep-Related Hypoxia, Right Ventricular Dysfunction, and Survival in Patients With Group 1 Pulmonary Arterial Hypertension

Journal of the American College of Cardiology, 2023-11, Vol.82 (21), p.1989-2005

2023

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Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera

Blood, 1996-10, Vol.88 (7), p.2690-2698

1996

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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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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Nature genetics, 2000-09, Vol.26 (1), p.81-84

2000

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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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A Detailed Physical and Transcriptional Map of the Region of Chromosome 20 That Is Deleted in Myeloproliferative Disorders and Refinement of the Common Deleted Region

Genomics (San Diego, Calif.), 1998-05, Vol.49 (3), p.351-362

1998

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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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Cleft lip and palate: new genetic clues

Trends in molecular medicine, 2001-12, Vol.7 (12), p.539-540

Aldred, Micheala A

2001

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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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Shedding light on endometrial cancer

Trends in molecular medicine, 2001-08, Vol.7 (8), p.335-335

Aldred, Micheala A

2001

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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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Pseudohypoparathyroidism: new insight into Gsα

Trends in molecular medicine, 2001, Vol.7 (1), p.8-8

Aldred, Micheala A

2001

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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Blood, 2020-10, Vol.136 (17), p.1907-1918

2020

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Analysis of Three Deletion Breakpoints in Xp21.1 and the Further Localization of RP3

Genomics (San Diego, Calif.), 1996-10, Vol.37 (2), p.200-210

1996

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Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Blood, 2024-05, Vol.143 (22), p.2314-2331

2024

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Linkage analysis in X-linked congenital stationary night blindness

Genomics (San Diego, Calif.), 1992-09, Vol.14 (1), p.99-104

1992

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

Alveolar Epithelial Cells Up-Regulate microRNA-17 & microRNA-548b in Response to Cold Ischemia - Ex Vivo Reperfusion of Human Lungs

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

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

Sleep-Related Hypoxia, Right Ventricular Dysfunction, and Survival in Patients With Group 1 Pulmonary Arterial Hypertension

Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera

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

Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

How safe is ERCP to the endoscopist ?

A Detailed Physical and Transcriptional Map of the Region of Chromosome 20 That Is Deleted in Myeloproliferative Disorders and Refinement of the Common Deleted Region

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

Cleft lip and palate: new genetic clues

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

Shedding light on endometrial cancer

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

Pseudohypoparathyroidism: new insight into Gsα

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Analysis of Three Deletion Breakpoints in Xp21.1 and the Further Localization of RP3

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Linkage analysis in X-linked congenital stationary night blindness

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

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