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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

American journal of human genetics, 2007-11, Vol.81 (5), p.906-912

2007

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The natural history of Noonan syndrome: a long-term follow-up study

Archives of disease in childhood, 2007-02, Vol.92 (2), p.128-132

2007

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Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

Clinical genetics, 2009-03, Vol.75 (3), p.271-276

2009

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TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

Neurology, 2011-03, Vol.76 (10), p.887-894

2011

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Diagnostic strategies in CADASIL

Neurology, 2002-10, Vol.59 (8), p.1134-1138

2002

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Correction: Castanea sativa (European Chestnut) Leaf Extracts Rich in Ursene and Oleanene Derivatives Block Staphylococcus aureus Virulence and Pathogenesis without Detectable Resistance

PloS one, 2016-09, Vol.11 (9), p.e0163655-e0163655

2016

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Evidence for equilibrium iron isotope fractionation by nitrate-reducing iron(II)-oxidizing bacteria

Geochimica et cosmochimica acta, 2010-05, Vol.74 (10), p.2826-2842

2010

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Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

Heart (British Cardiac Society), 2008-10, Vol.94 (10), p.1326-1330

2008

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A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

Neurology, 2008-07, Vol.71 (4), p.248-252

2008

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Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

Cardiology, 2009-01, Vol.113 (1), p.28-34

2009

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The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype

American journal of human genetics, 2001-07, Vol.69 (1), p.209-215

2001

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Expression of the stem cell factor receptor c‐kit in normal and diseased pediatric liver: Identification of a human hepatic progenitor cell?

Hepatology (Baltimore, Md.), 1999-07, Vol.30 (1), p.112-117

1999

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Immunolocalization of putative human liver progenitor cells in livers from patients with end-stage primary biliary cirrhosis and sclerosing cholangitis using the monoclonal antibody OV-6

The American journal of pathology, 1998-03, Vol.152 (3), p.771-779

1998

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Staphylococcus aureus Aggregation and Coagulation Mechanisms, and Their Function in Host–Pathogen Interactions

Advances in Applied Microbiology, 2016, Vol.96, p.1-41

2016

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Hepatic stem cells

Gut, 2000-06, Vol.46 (6), p.743-745

2000

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A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

Neurology, 2003-07, Vol.61 (2), p.235-238

2003

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Characterization and Isolation of Ductular Cells Coexpressing Neural Cell Adhesion Molecule and Bcl-2 from Primary Cholangiopathies and Ductal Plate Malformations

The American journal of pathology, 2000-05, Vol.156 (5), p.1599-1612

2000

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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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A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members

Journal of neurology, neurosurgery and psychiatry, 2001-12, Vol.71 (6), p.788-791

2001

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SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

Journal of the neurological sciences, 2003-12, Vol.216 (1), p.43-45

2003

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A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

Human molecular genetics, 2014-12, Vol.23 (23), p.6345-6355

2014

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Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families

Clinical genetics, 2007-09, Vol.72 (3), p.261-263

2007

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Adult liver stem cells: bone marrow, blood, or liver derived?

Gut, 2001-02, Vol.48 (2), p.153-154

2001

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Immunolocalization of OV‐6, a putative progenitor cell marker in human fetal and diseased pediatric liver

Hepatology (Baltimore, Md.), 1998-10, Vol.28 (4), p.980-985

1998

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Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset

Neuropediatrics, 2005-08, Vol.36 (4), p.274

2005

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

The natural history of Noonan syndrome: a long-term follow-up study

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

Diagnostic strategies in CADASIL

Correction: Castanea sativa (European Chestnut) Leaf Extracts Rich in Ursene and Oleanene Derivatives Block Staphylococcus aureus Virulence and Pathogenesis without Detectable Resistance

Evidence for equilibrium iron isotope fractionation by nitrate-reducing iron(II)-oxidizing bacteria

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype

Expression of the stem cell factor receptor c‐kit in normal and diseased pediatric liver: Identification of a human hepatic progenitor cell?

Immunolocalization of putative human liver progenitor cells in livers from patients with end-stage primary biliary cirrhosis and sclerosing cholangitis using the monoclonal antibody OV-6

Staphylococcus aureus Aggregation and Coagulation Mechanisms, and Their Function in Host–Pathogen Interactions

Hepatic stem cells

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

Characterization and Isolation of Ductular Cells Coexpressing Neural Cell Adhesion Molecule and Bcl-2 from Primary Cholangiopathies and Ductal Plate Malformations

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

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families

Adult liver stem cells: bone marrow, blood, or liver derived?

Immunolocalization of OV‐6, a putative progenitor cell marker in human fetal and diseased pediatric liver

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset

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