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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Nature genetics, 2000-03, Vol.24 (3), p.283-286

2000

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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

Science (American Association for the Advancement of Science), 1996-11, Vol.274 (5290), p.1197-1199

1996

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RETURNING GENETIC RESEARCH RESULTS TO INDIVIDUALS: POINTS-TO-CONSIDER

Bioethics, 2006-02, Vol.20 (1), p.24-36

2006

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Mutation in the α-synuclein gene identified in families with Parkinson's disease

Science (American Association for the Advancement of Science), 1997-06, Vol.276 (5321), p.2045-2047

1997

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Stimulus MDS-US Trial in Progress: Evaluating Sabatolimab in Combination with Hypomethylating Agents (HMAs) in Patients with Intermediate-, High-, or Very High-Risk Myelodysplastic Syndrome (MDS)

Blood, 2022-11, Vol.140 (Supplement 1), p.4069-4070

2022

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The gene for pycnodysostosis maps to human chromosome 1cen-q21

Nature genetics, 1995-06, Vol.10 (2), p.238-239

1995

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Addiction and autonomy returning genetic research results o neuroethics

Bioethics, 2006-02, Vol.20 (1), p.1-52

2006

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Mutation in the (alpha)-synuclein gene identified in families with Parkinson's disease

Science (American Association for the Advancement of Science), 1997-06, Vol.276 (5321), p.2045-2047

1997

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Brachydactyly Type C Gene Maps to Human Chromosome 12q24

Genomics (San Diego, Calif.), 1996-11, Vol.38 (1), p.45-50

1996

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The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

Arquivos de neuro-psiquiatria, 2001-09, Vol.59 (3-B), p.722-724

2001

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Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish

Human genetics, 1996-11, Vol.98 (5), p.572-575

1996

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Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency

Clinical biochemistry, 1997-02, Vol.30 (1), p.79-81

1997

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Contig map of the Parkinson's disease region on 4q21-q23

DNA research, 1998-02, Vol.5 (1), p.19-23

1998

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The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease Mutação G209A no gene da alfa-sinucleína em famílias brasileiras com doença de Parkinson

Arquivos de neuro-psiquiatria, 2001-09, Vol.59 (3B), p.722-724

2001

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Dinucleotide repeat polymorphism at the D14S99E locus

Human molecular genetics, 1993-04, Vol.2 (4), p.490-490

1993

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Mutation in the α-Synuclein Gene Indentified in Families with Parkinson's Disease

Science (American Association for the Advancement of Science), 1997-06, Vol.276 (5321), p.2045-2047

1997

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Linkage and cytogenetic mapping of a CAG repeat containing human cDNA to 3p24.2-p22

Cancer genetics and cytogenetics, 1996-11, Vol.92 (1), p.46-49

1996

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Transcription Factor 21 Is Required for Branching Morphogenesis and Regulates the Gdnf-Axis in Kidney Development

Journal of the American Society of Nephrology, 2018-12, Vol.29 (12), p.2795-2808

2018

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

American journal of human genetics, 2023-05, Vol.110 (5), p.809-825

2023

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Stromal Transcription Factor 21 Is Critical for Development of the Interstitium and Nephron Progenitor Cells via Interaction with Wnt/β-Catenin Signaling: PO0610

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.227-228

2021

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Tolvaptan in Autosomal Dominant Polycystic Kidney Disease: Three Years' Experience

Clinical journal of the American Society of Nephrology, 2011-10, Vol.6 (10), p.2499-2507

2011

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Stromal Transcription Factor 21 Regulates Development of the Renal Stroma via Interaction with Wnt/ β -Catenin Signaling

Kidney360, 2022-07, Vol.3 (7), p.1228

2022

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Pharmacogenetics and Pharmacogenomics in Drug Development and Regulatory Decision Making: Report of the First FDA-PWG-PhRMA-DruSafe Workshop

Journal of clinical pharmacology, 2003-04, Vol.43 (4), p.342-358

2003

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Prevalence of obesity was related to HLA-DQ in 2-4-year-old children at genetic risk for type 1 diabetes

International Journal of Obesity, 2014-12, Vol.38 (12), p.1491-1496

2014

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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

RETURNING GENETIC RESEARCH RESULTS TO INDIVIDUALS: POINTS-TO-CONSIDER

Mutation in the α-synuclein gene identified in families with Parkinson's disease

Stimulus MDS-US Trial in Progress: Evaluating Sabatolimab in Combination with Hypomethylating Agents (HMAs) in Patients with Intermediate-, High-, or Very High-Risk Myelodysplastic Syndrome (MDS)

The gene for pycnodysostosis maps to human chromosome 1cen-q21

Efficacy, Safety, and Confirmation of the Recommended Phase 2 Dose of Ruxolitinib Plus Panobinostat in Patients with Intermediate or High-Risk Myelofibrosis

Addiction and autonomy returning genetic research results o neuroethics

Mutation in the (alpha)-synuclein gene identified in families with Parkinson's disease

Brachydactyly Type C Gene Maps to Human Chromosome 12q24

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish

Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency

Contig map of the Parkinson's disease region on 4q21-q23

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease Mutação G209A no gene da alfa-sinucleína em famílias brasileiras com doença de Parkinson

Dinucleotide repeat polymorphism at the D14S99E locus

Mutation in the α-Synuclein Gene Indentified in Families with Parkinson's Disease

Linkage and cytogenetic mapping of a CAG repeat containing human cDNA to 3p24.2-p22

Transcription Factor 21 Is Required for Branching Morphogenesis and Regulates the Gdnf-Axis in Kidney Development

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Stromal Transcription Factor 21 Is Critical for Development of the Interstitium and Nephron Progenitor Cells via Interaction with Wnt/β-Catenin Signaling: PO0610

Tolvaptan in Autosomal Dominant Polycystic Kidney Disease: Three Years' Experience

Stromal Transcription Factor 21 Regulates Development of the Renal Stroma via Interaction with Wnt/ β -Catenin Signaling

Pharmacogenetics and Pharmacogenomics in Drug Development and Regulatory Decision Making: Report of the First FDA-PWG-PhRMA-DruSafe Workshop

Prevalence of obesity was related to HLA-DQ in 2-4-year-old children at genetic risk for type 1 diabetes

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