E. Mornet

发表

Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR‐based metabolomics analysis

L. Nowak, C. Fonta, J. Millán, 2017, Journal of neurochemistry.

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

S. Mansour, S. Holder, A. Norman, 2003, Human mutation.

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

M. Gerard-Blanluet, F. Encha-Razavi, M. le Merrer, 2007, Prenatal diagnosis.

Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment

C. De Leonibus, F. Chiarelli, A. Mohn, 2011, Acta paediatrica.

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

D. Charron, V. Tardy, Y. Morel, 2001, The Journal of clinical endocrinology and metabolism.

[Childhood hypophosphatasia: a case report due to a novel mutation].

Y. Gillerot, E. Mornet, C. Draguet, 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

S. Mehta, S. Sharif, G. Oǧur, 2006, Genetic testing.

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

I. Brun-Heath, B. Utsch, E. Mornet, 2007, European journal of medical genetics.

Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss.

J. Gris, P. de Mazancourt, P. Laissue, 2014, The American journal of pathology.

Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes

F. Muller, J. Boué, A. Boué, 1989, Clinical genetics.

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

M. Palkovits, C. Fonta, R. Lyck, 2011, Cell and Tissue Research.

Correlations of genotype and phenotype in hypophosphatasia.

J. Gibrat, F. Muller, B. Simon‐Bouy, 1999, Human molecular genetics.

Hypophosphatasia

E. Mornet, 2007, Orphanet journal of rare diseases.

Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.

K. Potočki, Danijela Petković Ramadža, I. Barić, 2009, Collegium antropologicum.

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

P. White, M. Raux-Demay, P. Crété, 1991, American journal of human genetics.

A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.

J. Gibrat, E. Mornet, 2000 .

A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations

J. Gibrat, E. Mornet, 2000, Human Genetics.

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

B. Simon‐Bouy, E. Mornet, A. Dufour, 2020, European Journal of Human Genetics.

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

M. Topcu, A. Alikaşifoğlu, Y. Alanay, 2012, Journal of clinical research in pediatric endocrinology.

Hypophosphatasia may lead to bone fragility: don’t miss it

J. Salles, E. Bieth, C. Baunin, 2009, European Journal of Pediatrics.

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

R. Brenner, F. Muller, O. Boute, 1999 .

A molecular approach to dominance in hypophosphatasia

J. Gibrat, A. Aylsworth, E. Bieth, 2001, Human Genetics.

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

D. Charron, V. Tardy, Y. Morel, 2001, The Journal of clinical endocrinology and metabolism.

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

F. Jakob, D. Schneider, B. Mentrup, 2014, European Journal of Human Genetics.

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

D. Fauvert, B. Simon‐Bouy, E. Mornet, 2011, Annals of human genetics.

Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency

J. Dausset, D. Cohen, P. White, 1986, Human Genetics.

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

J. Dausset, J. Oury, D. Cohen, 1986, Human Genetics.

Extensive genomic polymorphism in mouse 21-hydroxylase region

D. Cohen, M. Pla, L. Degos, 2004, Immunogenetics.

Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures.

P. Fardellone, M. Cohen-Solal, F. Debiais, 2017, Joint, bone, spine : revue du rhumatisme.

The ΔF508 mutation in mild adult forms of cystic fibrosis (CF)

J. Boué, A. Boué, B. Simon‐Bouy, 1991 .

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

J. Golmard, C. Bellanné-Chantelot, P. Touraine, 2009, The Journal of clinical endocrinology and metabolism.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

C. Mathew, F. Rousseau, A. Barnicoat, 1994, American journal of human genetics.

Characterization of a family with dominant hypophosphatasia.

J. Simmer, Chuhua Zhang, E. Mornet, 2000, European journal of oral sciences.

Fifteen new mutations (‐195C>T, L‐12X, 298‐2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

R. Hennekam, F. Fellmann, E. Bieth, 2000, Human mutation.

Severe cleidocranial dysplasia can mimic hypophosphatasia

S. Mundlos, D. Cole, S. Blaser, 2002, European Journal of Pediatrics.

PSEUDOTUMOR CEREBRI AS A RARE PRESENTATION OF INFANTILE HYPOPHOSPHATASIA: A CASE REPORT

A. Masri, A. Alassaf, R. Odeh, 2015 .

Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism

L. Tsui, J. Zieleński, J. Boué, 1992, Human Genetics.

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

I. Brun-Heath, B. Simon‐Bouy, E. Mornet, 2008, Human Genetics.

A polymorphic poly-A sequence in the 5′ region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11β-hydroxylase genes defects

M. Jager, F. Clot, B. Simon‐Bouy, 1994, Human Genetics.

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21‐hydroxylase deficiency

M. Raux-Demay, J. Boué, A. Boué, 1995, Human Mutation.

Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

J. Oury, M. Raux-Demay, J. Boué, 1989, Prenatal diagnosis.

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

E. Chouery, A. Mégarbané, R. Slim, 2001, American journal of medical genetics.

Definition and diagnostic criteria

E. Mornet, 2007 .

Hypophosphatasia.

E. Mornet, 2007, Orphanet journal of rare diseases.

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

M. Schwartz, A. Balassopoulou, J. Boué, 1990, Human Genetics.

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

D. Sillence, C. Ellaway, S. Balasubramaniam, 2010, Journal of Inherited Metabolic Disease.

Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.

I. Pin, G. Baujat, E. Mornet, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Clinical utility gene card for: Hypophosphatasia – update 2013

A. Bloch-Zupan, M. Merrer, E. Mornet, 2013, European Journal of Human Genetics.

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

P. de Mazancourt, I. Brun-Heath, E. Mornet, 2007, Clinical genetics.

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

F. Kaper, A. Superti-Furga, R. Brenner, 1998, European Journal of Human Genetics.

Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).

P. White, J. Dupont, A. Vítek, 1989, The Journal of biological chemistry.

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women

J. Dausset, H. Blanché, J. Fiet, 1997, Human Genetics.

Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase.

C. Fonta, J. Millán, E. Matera, 2020, Bone.

Genetic analysis of adults heterozygous for ALPL mutations

C. Roux, M. Laurent, P. Guggenbuhl, 2018, Journal of Bone and Mineral Metabolism.

Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations.

E. Mornet, 2015, Sub-cellular biochemistry.

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

J. Sire, E. Mornet, J. Silvent, 2014, The Journal of Biological Chemistry.

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

J. Sire, E. Mornet, J. Silvent, 2014 .

Genome wide expression profile in human HTR-8/Svneo trophoblastic cells in response to overexpression of placental alkaline phosphatase gene.

P. de Mazancourt, M. Dieudonné, G. Meurice, 2011, Placenta.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

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

I. Brun-Heath, E. Mornet, A. Taillandier, 2005, Molecular genetics and metabolism.

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

A. Ménez, E. Stura, M. Le Du, 2001, The Journal of Biological Chemistry.

A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta.

P. de Mazancourt, M. Dieudonné, I. Brun-Heath, 2010, Placenta.

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

M. Beer, M. Warmuth-Metz, P. Schneider, 2007, BMC pediatrics.

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia

J. Oury, F. Muller, I. Maire, 1999 .

Genetics of Hypophosphatasia

E. Mornet, 2013, Clinical Reviews in Bone and Mineral Metabolism.

Clinical utility gene card for: hypophosphatasia

A. Bloch-Zupan, M. Merrer, E. Mornet, 2011, European Journal of Human Genetics.

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

P. de Mazancourt, I. Brun-Heath, D. Fauvert, 2009, BMC Medical Genetics.

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

P. de Mazancourt, I. Brun-Heath, E. Mornet, 2005, The Journal of clinical endocrinology and metabolism.

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene

K. Koyama, E. Mornet, H. Sawai, 2003, Prenatal diagnosis.

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

K. Keppler-Noreuil, J. Bergoffen, R. Wallerstein, 2003, Journal of medical genetics.

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

G. Del Angel, J. Reynders, T. Steinbrecher, 2020, Human mutation.

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

E. Mornet, 2000, Human mutation.

Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

C. Sergi, E. Mornet, J. Troeger, 2001, American journal of medical genetics.

Twelve novel mutations in the tissue‐nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

I. Temple, M. Bonduelle, F. Muller, 2001, Human mutation.

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

E. Mornet, M. Spentchian, M. Hérasse, 2002, European Journal of Human Genetics.

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.

J. Oury, F. Muller, I. Maire, 1999, Prenatal diagnosis.

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

N. Suzumori, M. Sugiura-Ogasawara, Y. Ozaki, 2011, The journal of obstetrics and gynaecology research.

Specific ultrasonographic features of perinatal lethal hypophosphatasia

A. Zankl, S. Wong, E. Mornet, 2008, American journal of medical genetics. Part A.

Positive maternal serum triple test screening in severe early onset hypophosphatasia

J. Fryns, P. Moerman, E. Mornet, 2004, Prenatal diagnosis.

Neurosurgical aspects of childhood hypophosphatasia

S. Gattenlöhner, E. Mornet, H. Girschick, 2009, Child's Nervous System.

Biologie molculaire du syndrome de l'X fragile: donnes rcentes et applications diagnostiques

B. Simon‐Bouy, E. Mornet, 1996 .

Polymorphisms of human albumin gene after DNA restriction by Hae III endonuclease

M. Frain, J. Sala-Trepat, G. Lucotte, 2004, Human Genetics.

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

D. Droz, F. Clauss, M. Manière, 2009, Orphanet journal of rare diseases.

[Non-invasive prenatal diagnosis: a tool for the future? Which consequences for our practices?].

B. Simon‐Bouy, E. Mornet, 2010, Gynecologie, obstetrique & fertilite.

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

F. Muller, A. Delezoide, B. Simon‐Bouy, 1997, Human Genetics.

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.

J. Fiet, H. Galons, M. Raux-Demay, 1988, The Journal of clinical endocrinology and metabolism.

Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia.

M. Välimäki, A. Lamminen, C. Schalin-Jäntti, 2010, The Journal of clinical endocrinology and metabolism.

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

J. Millán, J. Roume, J. Salles, 2015, Molecular genetics and metabolism.

Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

M. Tejada, M. Baiget, E. Tizzano, 1994, Journal of medical genetics.

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

J. Mandel, C. Kretz, J. Boué, 1993, American journal of human genetics.

Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells.

P. Barbry, C. Gespach, E. Chastre, 1991, The Journal of biological chemistry.

General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype

J. Boué, A. Boué, B. Simon‐Bouy, 1993, European journal of human genetics : EJHG.

GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

X. Estivill, M. Farrall, R. Williamson, 1988, The Lancet.

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

B. Simon‐Bouy, E. Mornet, A. Taillandier, 1996, Human Genetics.

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range.

F. Thépot, E. Mornet, J. Serre, 1996, Human molecular genetics.

[Congenital adrenal hyperplasia (21-OH) in France. Population genetics].

J. Hochez, A. Chompret, J. Feingold, 1985, Archives francaises de pediatrie.

Genetics of hypophosphatasia.

E. Mornet, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Molecular analysis of a ring chromosome X in a family with fragile X syndrome

E. Leguern, M. Mathieu, F. Thépot, 1993, Human Genetics.

Transition from Normal to Premutated Alleles in Fragile X Syndrome Results from a Multistep Process

J. Boué, A. Boué, B. Simon‐Bouy, 1994, European journal of human genetics : EJHG.

Pregnancy failure and alkaline phosphatases: from mouse genetics to human disease.

J. Gris, P. Laissue, X. Montagutelli, 2012 .

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

A. Munnich, M. Thompson, Roberto Mendoza, 2010, American journal of medical genetics. Part A.

A longitudinal, prospective, long-term registry of patients with hypophosphatasia

C. Bedrosian, K. Ozono, A. Cole, 2015 .

Biphosphonates In Hypophosphatasia: Not The Evil?

E. Mornet, J. S. Gauzy, E. Mimoun, 2012 .

Growth Hormone Increases Growth Velocity And Alkaline Phosphatase Level In Children With Hypophosphatasia

E. Mornet, J. S. Gauzy, P. Moulin, 2012 .

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

J. Dötsch, H. Dörr, W. Rascher, 2008, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Adult hypophosphatasia. Current aspects.

F. Fellmann, D. Wendling, E. Mornet, 2001, Joint, bone, spine : revue du rhumatisme.

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

F. Jakob, D. Schneider, B. Mentrup, 2014, European Journal of Human Genetics.

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

R. Brenner, F. Muller, O. Boute, 1999, Human mutation.

Molecular Genetics of Hypophosphatasia

E. Mornet, 2012 .

Utility of genetic testing for prenatal presentations of hypophosphatasia.

E. Colin, A. Zankl, J. Salles, 2021, Molecular genetics and metabolism.

Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21

J. Oury, F. Muller, E. Mornet, 2000, Human Genetics.

Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies

K. Nicolaides, K. Nicolaides, F. Raymond, 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

P. Bartmann, E. Mornet, B. Gehring, 1999, Clinical genetics.

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

A. Bereket, S. Turan, S. Abalı, 2013, European Journal of Pediatrics.

The intermediate alleles of the fragile X CGG repeat in patients with mental retardation

B. Simon‐Bouy, E. Mornet, J. Serre, 1998, Clinical genetics.

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients

J. Boué, A. Boué, B. Simon‐Bouy, 1991, Clinical genetics.

Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot.

J. Boué, A. Boué, B. Simon‐Bouy, 1991, Genomics.

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

M. Warmuth-Metz, M. Beer, E. Mornet, 2015 .

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

M. Warmuth-Metz, E. Mornet, H. Girschick, 2007 .

Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment

C. De Leonibus, F. Chiarelli, A. Mohn, 2011, Acta paediatrica.

Direct DNA analysis of fragile X syndrome in Spanish pedigrees.

J. Mandel, V. Biancalana, J. Boué, 1992, American journal of medical genetics.