Lista de obras - Bettina Lorenz-Depiereux

An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease

artículo científico publicado en 2013

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

artículo científico publicado en 2004

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

artículo científico publicado en 2015

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

artículo científico publicado en 2007

Development of A Cell-Based Assay to Identify Small Molecule Inhibitors of FGF23 Signaling

artículo científico publicado en 2015

Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation

artículo científico publicado en 2007

Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

artículo científico publicado en 2014

Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism

artículo científico publicado en 2007

FGF23 is processed by proprotein convertases but not by PHEX.

artículo científico publicado en 2004

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

artículo científico publicado en 2005

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

artículo científico publicado en 2010

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

artículo científico publicado en 2010

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

scientific article

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

artículo científico publicado en 2004

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

artículo científico publicado en 2012

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

artículo científico publicado en 2006

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

artículo científico publicado en 2003

Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation

artículo científico publicado en 2016

Lista de obras de Bettina Lorenz-Depiereux

An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

Development of A Cell-Based Assay to Identify Small Molecule Inhibitors of FGF23 Signaling

Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation

Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism

FGF23 is processed by proprotein convertases but not by PHEX.

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation