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Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

The New England journal of medicine, 2014-11, Vol.371 (22), p.2061-2071

2014

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Complex genetics and the etiology of human congenital heart disease

Cold Spring Harbor perspectives in medicine, 2014-07, Vol.4 (7), p.a013953-a013953

2014

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Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

Science (American Association for the Advancement of Science), 1996-08, Vol.273 (5279), p.1236-1238

1996

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CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

Human molecular genetics, 1999-11, Vol.8 (12), p.2311-2316

1999

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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Nature genetics, 2000-05, Vol.25 (1), p.42-46

2000

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PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Clinical genetics, 2009-02, Vol.75 (2), p.190-194

2009

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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Human molecular genetics, 2014-08, Vol.23 (16), p.4315-4327

2014

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Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Molecular syndromology, 2010-02, Vol.1 (1), p.2-26

2010

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Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts

Calcified tissue international, 2003-10, Vol.73 (4), p.380-386

2003

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Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

Nature genetics, 1999-07, Vol.22 (3), p.309-312

1999

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Noonan syndrome and related disorders: genetics and pathogenesis

Annual review of genomics and human genetics, 2005-01, Vol.6 (1), p.45-68

2005

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Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Nature genetics, 2003-06, Vol.34 (2), p.148-150

2003

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Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

Journal of medical genetics, 2005-02, Vol.42 (2), p.e11-e11

2005

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ORE identifies extreme expression effects enriched for rare variants

Bioinformatics, 2019-10, Vol.35 (20), p.3906-3912

2019

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Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

American journal of human genetics, 2006-02, Vol.78 (2), p.279-290

2006

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Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation

Journal of bone and mineral research, 1999-11, Vol.14 (11), p.1902-1908

1999

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Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Nature genetics, 2001-12, Vol.29 (4), p.465-468

2001

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Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes

Clinical genetics, 2003-05, Vol.63 (5), p.423-426

2003

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Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

Human mutation, 2004-03, Vol.23 (3), p.267-277

2004

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Collagenase Activity of Cathepsin K Depends on Complex Formation with Chondroitin Sulfate

The Journal of biological chemistry, 2002-08, Vol.277 (32), p.28669-28676

2002

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Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

American journal of human genetics, 1998-12, Vol.63 (6), p.1703-1711

1998

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PTPN11 mutations play a minor role in isolated congenital heart disease

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.146-151

2005

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Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis

American journal of human genetics, 1998-04, Vol.62 (4), p.848-854

1998

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Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

American journal of human genetics, 2004-09, Vol.75 (3), p.492-497

2004

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The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction

Cell, 2009-10, Vol.139 (1), p.186-198

2009

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Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

Complex genetics and the etiology of human congenital heart disease

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

Noonan syndrome and related disorders: genetics and pathogenesis

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

ORE identifies extreme expression effects enriched for rare variants

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

Collagenase Activity of Cathepsin K Depends on Complex Formation with Chondroitin Sulfate

Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

PTPN11 mutations play a minor role in isolated congenital heart disease

Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction

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