E Mornet

Summary

Country: France

Publications

  1. doi request reprint Hypophosphatasia
    Etienne Mornet
    Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean Louis Forain, 78150 Le Chesnay, France
    Best Pract Res Clin Rheumatol 22:113-27. 2008
  2. pmc Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy
    Hermann J Girschick
    Children s Hospital, University of Wurzburg, Germany
    BMC Pediatr 7:3. 2007
  3. pmc Hypophosphatasia
    Etienne Mornet
    Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean Louis Forain, 78150 Le Chesnay, France
    Orphanet J Rare Dis 2:40. 2007
  4. ncbi request reprint [DNA, 50 years of the double helix: from the concept of molecular hybridization to microarrays]
    E Mornet
    Laboratoire SESEP, université de Versaille Saint Quentin en Yvelines, 45, Avenue des Etats Unis, 78035 Versailles, France
    Gynecol Obstet Fertil 31:895-9. 2003
  5. ncbi request reprint [Genetics of hypophosphatasia]
    E Mornet
    Centre d études de biologie prénatale, Laboratoire SESEP, Universite de Versailles Saint Quentin en Yvelines, Batiment Fermat, 45, Avenue des Etats Unis, 78035 Versailles, France
    Arch Pediatr 11:444-8. 2004
  6. ncbi request reprint A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
    E Mornet
    Centre d études de biologie prénatale, SESEP, Universite de Versailles Saint Quentin, Versailles, France
    Hum Genet 106:330-9. 2000
  7. ncbi request reprint Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles Saint Quentin en Yvelines, Versailles, France
    Hum Mutat 15:309-15. 2000
  8. ncbi request reprint Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, France
    Eur J Hum Genet 6:308-14. 1998
  9. ncbi request reprint Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, Versailles, France
    Prenat Diagn 19:755-7. 1999
  10. ncbi request reprint Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
    E Mornet
    Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Universite de Versailles Saint Quentin, France
    Hum Genet 100:512-4. 1997

Collaborators

Detail Information

Publications32

  1. doi request reprint Hypophosphatasia
    Etienne Mornet
    Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean Louis Forain, 78150 Le Chesnay, France
    Best Pract Res Clin Rheumatol 22:113-27. 2008
    ..Over the past 10 years, great progress has been made in understanding the structure of tissue non-specific alkaline phosphatase, its function in bone mineralization, and the effect of ALPL mutations responsible for hypophosphatasia...
  2. pmc Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy
    Hermann J Girschick
    Children s Hospital, University of Wurzburg, Germany
    BMC Pediatr 7:3. 2007
    ..The latter has been associated with chronic inflammation and hyperprostaglandinism...
  3. pmc Hypophosphatasia
    Etienne Mornet
    Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean Louis Forain, 78150 Le Chesnay, France
    Orphanet J Rare Dis 2:40. 2007
    ..Enzyme replacement therapy will be certainly the most promising challenge of the next few years...
  4. ncbi request reprint [DNA, 50 years of the double helix: from the concept of molecular hybridization to microarrays]
    E Mornet
    Laboratoire SESEP, université de Versaille Saint Quentin en Yvelines, 45, Avenue des Etats Unis, 78035 Versailles, France
    Gynecol Obstet Fertil 31:895-9. 2003
    ..The discovery of the double helix structure allowed to evidence the DNA property of molecular hybridization on which are based most of the molecular biology tools, from the old Southern blot method to the recently developed microarrays...
  5. ncbi request reprint [Genetics of hypophosphatasia]
    E Mornet
    Centre d études de biologie prénatale, Laboratoire SESEP, Universite de Versailles Saint Quentin en Yvelines, Batiment Fermat, 45, Avenue des Etats Unis, 78035 Versailles, France
    Arch Pediatr 11:444-8. 2004
    ....
  6. ncbi request reprint A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
    E Mornet
    Centre d études de biologie prénatale, SESEP, Universite de Versailles Saint Quentin, Versailles, France
    Hum Genet 106:330-9. 2000
    ..Our 3D human models provide a basic model for further studies of mutations responsible for 21-hydroxylase, and for identification of important residues involved in the specific activity of the enzyme...
  7. ncbi request reprint Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles Saint Quentin en Yvelines, Versailles, France
    Hum Mutat 15:309-15. 2000
    ..Screening is also the necessary first step in further studies to elucidate dominant transmission of the disease and of liver-, bone- and kidney-type alkaline phosphatase activity mechanism...
  8. ncbi request reprint Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, France
    Eur J Hum Genet 6:308-14. 1998
    ....
  9. ncbi request reprint Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, Versailles, France
    Prenat Diagn 19:755-7. 1999
    ..The results showed a good correlation between ALP assay and DNA analysis in all but one case, which suggested that in at least some cases low values of ALP may correspond to affected fetuses as well as to heterozygotes...
  10. ncbi request reprint Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
    E Mornet
    Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Universite de Versailles Saint Quentin, France
    Hum Genet 100:512-4. 1997
    ..In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD...
  11. ncbi request reprint The intermediate alleles of the fragile X CGG repeat in patients with mental retardation
    E Mornet
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles Saint Quentin, Versailles, France
    Clin Genet 53:200-1. 1998
    ..These data do not corroborate previous findings supporting the idea that intermediate alleles may have a deleterious effect on mental retardation...
  12. ncbi request reprint Correlations of genotype and phenotype in hypophosphatasia
    L Zurutuza
    Centre d Etude de Biologie Prénatale SESEP, Universite de Versailles Saint Quentin, Versailles, France
    Hum Mol Genet 8:1039-46. 1999
    ..They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene...
  13. ncbi request reprint A molecular approach to dominance in hypophosphatasia
    A S Lia-Baldini
    Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Batiment Fermat, Universite de Versailles Saint Quentin en Yvelines, 45 Avenue des Etats Unis, 78035 Versailles Cedex, France
    Hum Genet 109:99-108. 2001
    ..the active site and an area probably interacting with a region having a particular biological function such as dimerization, tetramerization, or membrane anchoring...
  14. ncbi request reprint Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
    A Taillandier
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, Versailles, France
    Hum Mutat 18:83-4. 2001
    ..Eleven of the 12 new mutations were missense mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, A382S, V406A), the last one (998-1G>T) was a mutation affecting acceptor splice site...
  15. ncbi request reprint 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
    A Taillandier
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, Versailles, France
    Hum Mutat 15:293. 2000
    ..Hum Mutat 15:293, 2000...
  16. ncbi request reprint A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene
    I Brun-Heath
    Equipe Structure Fonction et Génétique, EA 2493, CHU Paris Ile de France Ouest, Universite de Versailles Saint Quentin en Yvelines, France
    Clin Genet 73:245-50. 2008
    ..1133A>T (D361V) mutation by providing an increased level of normal mRNA. This may also explain the variable expression of hypophosphatasia observed in parents of patients with the perinatal benign form...
  17. ncbi request reprint 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
    A Taillandier
    Centre d Etudes de Biologie Prénatale SESEP, Universite de Versailles, France
    Hum Mutat 13:171-2. 1999
    ....
  18. doi request reprint Genome wide expression profile in human HTR-8/Svneo trophoblastic cells in response to overexpression of placental alkaline phosphatase gene
    L Bellazi
    Unité de pathologie cellulaire et génétique UPRES EA2493, UFR Paris Ile de France Ouest PRES Universud Paris, Universite de Versailles Saint Quentin en Yvelines, Versailles, France
    Placenta 32:771-7. 2011
    ..We showed that PLAP exerts a positive effect on DNA replication and acts as a proliferative factor in trophoblastic cells...
  19. doi request reprint A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta
    L Bellazi
    Unité de Pathologie Cellulaire et Génétique, UPRES EA2493, Faculté de Médecine Paris Ile de France Ouest PRES Universud Paris, Universite de Versailles Saint Quentin en Yvelines, 78035 Versailles, France
    Placenta 31:764-9. 2010
    ..The possible role of this allelic-specific expression in placenta-related pathology is discussed...
  20. ncbi request reprint Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene
    A Taillandier
    Laboratoire SESEP, Batiment Fermat, Universite de Versailles Saint Quentin en Yvelines, 45 Avenue des Etats Unis, F 78035 Versailles, France
    J Clin Endocrinol Metab 90:2436-9. 2005
    ..In conclusion, childhood hypophosphatasia in this patient is the result of compound heterozygosity for the moderate mutation E174K and a novel severe de novo mutation M45I...
  21. ncbi request reprint [Molecular genetic testing in amniotic fluid]
    B Simon-Bouy
    Laboratoire SESEP, Universite de Versailles, Saint Quentin, 45, Avenue des Etats Unis, 78000 Versailles, France
    Gynecol Obstet Fertil 30:325-30. 2002
    ..Microsatellites sequences can be used on amniotic cells as a rapid test for chromosomal aneuploidies...
  22. ncbi request reprint Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
    B Barbat
    Centre d études de biologie prénatale, SESEP Laboratoire, Chateau de Longchamp, Bois de Boulogne, Paris, France
    Hum Mutat 5:126-30. 1995
    ..In 65 informative meioses of CAH families, no de novo mutation was found...
  23. ncbi request reprint Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene
    M Spentchian
    Centre d Etudes de Biologie Prénatal SESEP, Universite de Versailles Saint Quentin en Yvelines, Versailles, France
    Hum Mutat 22:105-6. 2003
    ..This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations...
  24. ncbi request reprint Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients
    Muriel Herasse
    Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Universite de Versailles Saint Quentin en Yvelines, Versailles, France
    Eur J Hum Genet 10:666-8. 2002
    ....
  25. ncbi request reprint Positive maternal serum triple test screening in severe early onset hypophosphatasia
    Ingrid Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Prenat Diagn 24:494-7. 2004
    ..The clinical presentation of hypophosphatasia is variable ranging from early onset lethal short-limb dwarfism to a late-onset presentation with fractures in childhood or adulthood...
  26. ncbi request reprint Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia
    Isabelle Brun-Heath
    Equipe Structure Fonction et Génétique, EA 2493, CHU Paris Ile de France Ouest, Universite de Versailles Saint Quentin en Yvelines, France
    Eur J Med Genet 50:367-78. 2007
    ..We concluded that reduced ALP activity of these TNSALP mutants results from structural disturbances and delay in membrane anchoring, and not from compromised catalytic activity...
  27. ncbi request reprint Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments
    Marc Spentchian
    Laboratoire SESEP, Universite de Versailles Saint Quentin en Yvelines, Versailles, France
    Genet Test 10:252-7. 2006
    ..We conclude that QMPSF slightly reduces the proportion of undetected mutations in hypophosphatasia and improves genetic counselling in the affected families...
  28. ncbi request reprint Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations
    Isabelle Brun-Heath
    Equipe Structure Fonction et Génétique, EA 2493, CHU Paris Ile de France Ouest, Universite de Versailles Saint Quentin en Yvelines, France
    Mol Genet Metab 84:273-7. 2005
    ..Together, our results confirm the functional role of the calcium site and suggest that its function is likely to be specific to vertebrates...
  29. ncbi request reprint Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene
    Hideaki Sawai
    Laboratory of Developmental Biology and Reproduction, Institute for Advanced Medical Sciences, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan
    Prenat Diagn 23:743-6. 2003
    ..This disorder is caused by various mutations in the TNSALP gene. We report here hypophosphatasia in two siblings, both of them severely affected by the perinatal (lethal) type...
  30. ncbi request reprint [A novel mutation in infant hypophophatasia: a case report]
    Sonia Halioui-Louhaichi
    Service de pédiatrie et de néonatologie, l Hôpital Mongi Slim, La Marsa, Tunisie
    Tunis Med 85:433-6. 2007
    ..The child is homozygous for a new mutation L282P in the ninth exon of the gene. The parents and two brother and sister are heterozygous for the same mutation...
  31. ncbi request reprint Severe cleidocranial dysplasia can mimic hypophosphatasia
    Sheila Unger
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
    Eur J Pediatr 161:623-6. 2002
    ..However, no mutations were found on direct sequencing of the tissue-nonspecific alkaline phosphatase ( TNSALP) gene using a protocol that detects up to 94% of all mutations causing hypophosphatasia...
  32. doi request reprint Specific ultrasonographic features of perinatal lethal hypophosphatasia
    Andreas Zankl
    Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Australia
    Am J Med Genet A 146:1200-4. 2008
    ..Here we present a case of molecularly confirmed PL-HPH and illustrate specific ultrasonographic findings that help to distinguish PL-HPH from similar conditions...