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Hypophosphatasia

Orphanet journal of rare diseases, 2007-10, Vol.2 (1), p.40-40, Article 40

Mornet, Etienne

2007

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Hypophosphatasia

Best practice & research. Clinical rheumatology, 2008-03, Vol.22 (1), p.113-127

Mornet, Etienne, PhD

2008

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Hypophosphatasia

Metabolism, clinical and experimental, 2018-05, Vol.82, p.142-155

Mornet, Etienne

2018

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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.289-299

2021

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Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

The Journal of biological chemistry, 2014-08, Vol.289 (35), p.24168-24179

2014

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A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Annals of human genetics, 2011-05, Vol.75 (3), p.439-445

2011

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Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1160-1164

2014

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Diagnostic Techniques in Genetics

1. Aufl., 2007

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Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Orphanet journal of rare diseases, 2009-02, Vol.4 (1), p.6-6, Article 6

2009

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Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

Human mutation, 2000-04, Vol.15 (4), p.309-315

Mornet, Etienne

2000

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Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

BMC medical genetics, 2009-06, Vol.10 (51), p.51-51, Article 51

2009

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Genetic analysis of adults heterozygous for ALPL mutations

Journal of bone and mineral metabolism, 2018-11, Vol.36 (6), p.723-733

2018

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Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

Cell and tissue research, 2011-03, Vol.343 (3), p.521-536

2011

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Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

BMC pediatrics, 2007-01, Vol.7 (1), p.3-3, Article 3

2007

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Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

European journal of pediatrics, 2013-06, Vol.172 (6), p.851-853

2013

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Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations

Sub-cellular biochemistry, 2015, Vol.76, p.25

Mornet, Etienne

2015

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Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization

The Journal of biological chemistry, 2001-08, Vol.276 (33), p.31171-31178

2001

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Specific ultrasonographic features of perinatal lethal hypophosphatasia

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1200-1204

2008

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Clinical utility gene card for: hypophosphatasia

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.4-5

2011

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Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Human mutation, 2020-07, Vol.41 (7), p.1250-1262

2020

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Genetics of Hypophosphatasia

Clinical reviews in bone and mineral metabolism, 2013-06, Vol.11 (2), p.71-77

Mornet, Etienne

2013

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Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

The journal of obstetrics and gynaecology research, 2011-10, Vol.37 (10), p.1470-1473

2011

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Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase

Bone (New York, N.Y.), 2020-04, Vol.133, p.115262-115262, Article 115262

2020

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Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

Molecular genetics and metabolism, 2005-03, Vol.84 (3), p.273-277

2005

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Clinical utility gene card for: hypophosphatasia - update 2013

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.572-572

2014

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Hypophosphatasia

Hypophosphatasia

Hypophosphatasia

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

Diagnostic Techniques in Genetics

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Genetic analysis of adults heterozygous for ALPL mutations

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations

Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization

Specific ultrasonographic features of perinatal lethal hypophosphatasia

Clinical utility gene card for: hypophosphatasia

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Genetics of Hypophosphatasia

Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

Clinical utility gene card for: hypophosphatasia - update 2013

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