P Labrune

Summary

Country: France

Publications

  1. ncbi request reprint Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid
    P Labrune
    Service de Pediatrie, Hopital Antoine Béclere AP HP, Clamart, France
    Am J Med Genet 87:324-8. 1999
  2. ncbi request reprint Glycogen storage disease type I: indications for liver and/or kidney transplantation
    Philippe Labrune
    Service de Pédiatrie et Consultation de Génétique, Hopital Antoine Béclere AP HP, BP 405, 92141 Clamart Cedex, France
    Eur J Pediatr 161:S53-5. 2002
  3. ncbi request reprint Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online
    P Trioche
    Service de Pédiatrie and UPRES EA 2704, Hopital Antoine Beclere, Clamart, France
    Hum Mutat 14:91. 1999
  4. ncbi request reprint Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency
    P Labrune
    Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    Eur J Pediatr 158:734-9. 1999
  5. doi request reprint Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
    N Guediche
    Univ Paris Sud, Service d Histologie Embryologie et Cytogénétique, APHP, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 152:464-71. 2010
  6. doi request reprint Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion
    M L Maurin
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Universite Paris Sud, Hopital Antoine Beclere, APHP, Clamart, France
    Am J Med Genet A 149:226-31. 2009
  7. ncbi request reprint Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases
    P Trioche
    Service de Pédiatrie and UPRES EA 2705, Hopital Antoine Béclere AP HP, Clamart Cedex, France
    J Inherit Metab Dis 27:621-3. 2004
  8. ncbi request reprint Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
    P Mabboux
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Hopital Antoine Beclere, APHP, Universite Paris Sud, Clamart, France
    Am J Med Genet A 143:727-33. 2007
  9. ncbi request reprint De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern
    G Tachdjian
    Biologie et Génétique de la Reproduction, AP HP Hôpital Antoine Béclère, 92140 Clamart, France
    Am J Med Genet A 131:273-80. 2004
  10. ncbi request reprint [Factors predicting serious bacterial infections in febrile infants less than three months old: multivariate analysis]
    V Gajdos
    Service de Pediatrie, Hopital Antoine Beclere, Assistance Publique Hopitaux de Paris, BP 405, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 12:397-403. 2005

Collaborators

Detail Information

Publications41

  1. ncbi request reprint Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid
    P Labrune
    Service de Pediatrie, Hopital Antoine Béclere AP HP, Clamart, France
    Am J Med Genet 87:324-8. 1999
    ..In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction...
  2. ncbi request reprint Glycogen storage disease type I: indications for liver and/or kidney transplantation
    Philippe Labrune
    Service de Pédiatrie et Consultation de Génétique, Hopital Antoine Béclere AP HP, BP 405, 92141 Clamart Cedex, France
    Eur J Pediatr 161:S53-5. 2002
    ..It is hoped that improving long-term metabolic control will prevent renal involvement from evolving to terminal renal failure. Finally, combined liver and kidney transplantation may be indicated in a few patients...
  3. ncbi request reprint Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online
    P Trioche
    Service de Pédiatrie and UPRES EA 2704, Hopital Antoine Beclere, Clamart, France
    Hum Mutat 14:91. 1999
    ..Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition...
  4. ncbi request reprint Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency
    P Labrune
    Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    Eur J Pediatr 158:734-9. 1999
    ....
  5. doi request reprint Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
    N Guediche
    Univ Paris Sud, Service d Histologie Embryologie et Cytogénétique, APHP, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 152:464-71. 2010
    ..This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis...
  6. doi request reprint Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion
    M L Maurin
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Universite Paris Sud, Hopital Antoine Beclere, APHP, Clamart, France
    Am J Med Genet A 149:226-31. 2009
    ..This case and review of literature suggest that two genes ArgBP2 and PDLIM3, located at 4q35.1 and both involved in cardiac and muscle development, could be responsible for cardiac defects observed in terminal 4q35.1 deletions...
  7. ncbi request reprint Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases
    P Trioche
    Service de Pédiatrie and UPRES EA 2705, Hopital Antoine Béclere AP HP, Clamart Cedex, France
    J Inherit Metab Dis 27:621-3. 2004
    ..Among these, one is a novel mutation of G6PT: 855T>C (L229P)...
  8. ncbi request reprint Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
    P Mabboux
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Hopital Antoine Beclere, APHP, Universite Paris Sud, Clamart, France
    Am J Med Genet A 143:727-33. 2007
    ..We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation...
  9. ncbi request reprint De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern
    G Tachdjian
    Biologie et Génétique de la Reproduction, AP HP Hôpital Antoine Béclère, 92140 Clamart, France
    Am J Med Genet A 131:273-80. 2004
    ..1q25. This report and review of the literature suggest that functional disomy for chromosome X could explain the abnormal phenotype. In prenatal diagnosis, this can have implication for patient management and genetic counseling...
  10. ncbi request reprint [Factors predicting serious bacterial infections in febrile infants less than three months old: multivariate analysis]
    V Gajdos
    Service de Pediatrie, Hopital Antoine Beclere, Assistance Publique Hopitaux de Paris, BP 405, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 12:397-403. 2005
    ..To identify predictive factors of the presence of a serious bacterial infection (SBI) in febrile infants less than three months old...
  11. ncbi request reprint Crigler-Najjar type II disease inheritance: a family study
    P Labrune
    , , Clamart, France
    J Inherit Metab Dis 12:302-6. 1989
    ..The second infant of this couple was affected by the same disease and was treated with success by phenobarbital...
  12. ncbi request reprint Unusual cerebral manifestations in hereditary fructose intolerance
    P Labrune
    Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    Arch Neurol 47:1243-4. 1990
    ..Neurological impairment is not classic in hereditary fructose intolerance, but its occurrence in the acute phase of the disease is possible and does not constitute an argument against the diagnosis...
  13. doi request reprint [Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases]
    F Petit
    Laboratoire de génétique moléculaire des maladies métaboliques, Hopital Antoine Beclere, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Prog Urol 23:210-8. 2013
    ..To elaborate and validate in general population a survey built with self-administered questionnaires in French about evaluation of sexual health for an application to men and women with metabolic disease...
  14. ncbi request reprint [Hepatomegaly: diagnosis approach]
    P Labrune
    Service de Pediatrie, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hopital Antoine Beclere, Assistance Publique Hopitaux de Paris, BP 405, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 14:573-5. 2007
  15. ncbi request reprint Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis
    M Humbert
    Unité Propre de Recherche de l Enseignement Supérieur 2705, Centre des Maladies Vasculaires Pulmonaires, Hĵpital Antoine Béclère, Universite Paris Sud, Clamart, France
    Eur Respir J 20:59-65. 2002
    ..4 nmol x L(-1)). It is concluded that type-Ia glycogen-storage disease may be another condition in which abnormal handling of serotonin is one event in a multistep process leading to severe pulmonary arterial hypertension...
  16. ncbi request reprint Sweet syndrome as the presenting manifestation of chronic granulomatous disease in an infant
    D Sedel
    , , Clamart, France
    Pediatr Dermatol 11:237-40. 1994
    ..The precise relationship between the conditions remains to be determined. Granulocyte function should be evaluated in any infant with Sweet syndrome...
  17. ncbi request reprint [Influenza vaccination coverage rate in children with underlying chronic disorders in 7 French pediatric wards]
    C Weil-Olivier
    Service de Pediatrie, Hopital Louis Mourier, Assistance Publique Hopitaux de Paris, 178, rue des Renouillers, 92701 Colombes cedex 01, France
    Arch Pediatr 13:1287-93. 2006
    ..The national goal is to reach 75% influenza vaccination coverage by 2008, but data on coverage in high risk children are limited...
  18. ncbi request reprint Terminal 14q32.33 deletion: genotype-phenotype correlation
    M L Maurin
    Service d Histologie Embryologie Cytogénétique APHP, INSERM U782, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 140:2324-9. 2006
    ..6 Mb of chromosome 14...
  19. ncbi request reprint Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia
    M Odievre
    Service de Pediatrie, Hĵpital Antoine Béclère AP HP, Clamart, France
    J Inherit Metab Dis 24:507-8. 2001
    ....
  20. doi request reprint [What evidence for chest physiotherapy in infants hospitalized for acute viral bronchiolitis?]
    S Bailleux
    Service de Pediatrie Generale, Hopital Antoine Beclere, AP HP, 157, rue de Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 18:472-5. 2011
    ..Further trials are necessary for evaluating this technique in infants who are not hospitalized...
  21. ncbi request reprint Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells
    Gerard Tachdjian
    Service d Histologie Embryologie Cytogénétique, Hôpital Antoine Béclère APHP, Clamart, France
    Fetal Diagn Ther 21:428-32. 2006
    ..We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells...
  22. ncbi request reprint Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI
    Jocelyne De Laveaucoupet
    Department of Radiology, Hospital Antoine Beclere, 92140 Clamart, France
    Prenat Diagn 25:307-10. 2005
    ..The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome...
  23. ncbi request reprint Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter
    Nicolas Gruchy
    Laboratoire de Cytogenetique, AP HP, Hopital Saint Antoine, Universite Pierre et Marie Curie, Paris, France
    Am J Med Genet A 143:2417-22. 2007
    ..The phenotypic effects of the terminal deletion of 2p in addition to the trisomy are discussed. This is the third patient presenting with a severe clinical phenotype and a de novo inv dup del (2p)...
  24. ncbi request reprint Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study
    Vincent Gajdos
    Clin Chem 52:2313-4. 2006
  25. ncbi request reprint Is a polymorphism of the apolipoprotein E gene associated with preeclampsia?
    Jeanne Francoual
    Department of Biochemistry, Hospital Antoine Beclere, Clamart, 92141, France
    Hypertens Pregnancy 21:127-33. 2002
    ..Apolipoprotein E (apo E) is pivotal in lipid metabolism. In women with preeclampsia, an atherogenic state is observed. We hypothesized that a particular genotype of apo E may be associated with preeclampsia...
  26. ncbi request reprint Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
    ..This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases...
  27. ncbi request reprint Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome
    Philippe Labrune
    Hum Mutat 20:399-401. 2002
  28. ncbi request reprint Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP)
    Jeanne Francoual
    Laboratoire de Biochimie, Hopital Antoine Béclere AP HP, 92141 Clamart Cedex, France
    Prenat Diagn 22:914-6. 2002
    ..SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis...
  29. ncbi request reprint Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1
    Gepke Visser
    Beatrix Children s Hospital, Groningen, The Netherlands
    Eur J Pediatr 161:S120-3. 2002
    ....
  30. doi request reprint [Natural history of hepatic glycogen storage diseases]
    Philippe Labrune
    Service de Pediatrie, Centre de référence des maladies héréditaires du métabolisme hépatique, AP HP, Hopital Antoine Beclere, F 92141 Clamart Cedex, France
    Presse Med 37:1172-7. 2008
    ..It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. To reach this goal, collaboration between pediatric specialists and those who treat adults is essential...
  31. ncbi request reprint Abdominal pain and ketonuria in an 11-year-old girl five months after abdominal trauma
    Vincent Gajdos
    Service de Pediatrie, Service de Reanimation Medicale, and Service de Chirurgie, Hopital Antoine Beclere, Clamart Cedex, France
    J Pediatr Surg 37:1361-2. 2002
    ..The girl died soon after operation...
  32. ncbi request reprint Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene
    Jeanne Francoual
    Hum Mutat 19:570-1. 2002
  33. ncbi request reprint Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
    Jan Peter Rake
    Department of Paediatrics, Beatrix Children s Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Pediatr 161:S20-34. 2002
    ..2000, J Pediatr 137:187-191; Visser et al. 2002, Eur J Pediatr DOI 10.1007/s00431-002-1010-0)...
  34. ncbi request reprint Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al
    François M Petit
    Haematologica 92:e80. 2007
  35. ncbi request reprint Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1
    Gepke Visser
    Beatrix Children s Hospital, University Hospital, Groningen, The Netherlands
    Eur J Pediatr 161:S83-7. 2002
    ..In all patients treated, the number and severity of infections decreased and the severity of IBD improved subjectively. The most serious complication of GCSF treatment was marked splenomegaly (four patients)...
  36. ncbi request reprint Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)
    Jan Peter Rake
    Department of Paediatrics, Beatrix Children s Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Pediatr 161:S112-9. 2002
    ..management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up...
  37. ncbi request reprint Successful pregnancy in a Crigler-Najjar type I patient treated by phototherapy and semimonthly albumin infusions
    Vincent Gajdos
    Service de Pediatrie, Hôpital Antoine Béclère APHP, Clamart, France
    Gastroenterology 131:921-4. 2006
  38. ncbi request reprint Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia
    Anne Marfaing-Koka
    Service d Hematologie Biologique, Hopital Antoine Beclere, Clamart, France
    J Pediatr Gastroenterol Nutr 37:566-70. 2003
    ..The role of inflammation was investigated by the measurement of tumor necrosis factor alpha (TNF-alpha) and interleukin-6 (IL-6) levels in plasma...
  39. ncbi request reprint Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis
    Claire Colmant
    Prenat Diagn 26:750-2. 2006
  40. ncbi request reprint Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
    Celia J Angaroni
    Centro de Estudio de las Metabolopatias Congenitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Medicas, Universidad Nacional de Cordoba, Cordoba, Argentina
    Mol Genet Metab 88:96-9. 2006
    ..A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins...
  41. doi request reprint The Tunisian population history through the Crigler-Najjar type I syndrome
    François M Petit
    Department of Biochemistry, Antoine Beclere Hospital, Universite Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France
    Eur J Hum Genet 16:848-53. 2008
    ..After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities...