R Aquaron

Summary

Country: France

Publications

  1. ncbi Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families
    Aicha Ladjouze-Rezig
    Rheumatology Department, Ben Aknoun Hospital, Algiers, Algeria
    Joint Bone Spine 73:284-92. 2006
  2. ncbi Tradition of basic and applied pigment cell research in Marseilles
    R Aquaron
    Laboratoire de Biochimie, Faculte de Medecine, Marseille, France
    Cell Mol Biol (Noisy-le-grand) 45:877-82. 1999
  3. ncbi Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation
    Robert Aquaron
    Universite de la Mediterranee, Laboratoire de Biochimie et Biologie Moleculaire, Faculte de Medecine, Marseille, France
    Neuromuscul Disord 17:235-41. 2007
  4. ncbi [Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]
    R Aquaron
    Laboratoire de Biochimie et de Biologie Moleculaire, Faculte de Medecine, Marseille, France
    Med Trop (Mars) 65:584-91. 2005
  5. ncbi Simple, reliable and fast spectrofluorometric method for determination of plasma Verteporfin (Visudyne) levels during photodynamic therapy for choroidal neovascularization
    R Aquaron
    Université de la Méditeranée, Faculte de Medecine, Laboratoire de Biochimie et Biologie Moleculaire, 27 Boulevard Jean Moulin, 13385 Marseille, Cedex 05, France
    Cell Mol Biol (Noisy-le-grand) 48:925-30. 2002
  6. ncbi Bioavailability of seaweed iodine in human beings
    Robert Aquaron
    Universite de la Mediterranee, Faculte de Medecine, Laboratoire de Biochimie, Marseille, France
    Cell Mol Biol (Noisy-le-grand) 48:563-9. 2002
  7. ncbi Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene
    Robert Aquaron
    Laboratoire de Biochimie et Biologie Moleculaire, Faculte de Medecine, Universite de la Mediterranee Aix Marseille II, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    J Hum Genet 52:771-80. 2007
  8. ncbi New KIT mutations in patients with piebaldism
    Tomoko Murakami
    Department of Dermatology, Osaka City University Graduate School of Medicine, 1 4 3 Asahimachi Abeno ku, Osaka 545 8585, Japan
    J Dermatol Sci 35:29-33. 2004
  9. ncbi A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism
    Catherine Badens
    J Dermatol Sci 42:121-4. 2006
  10. ncbi Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism
    Tomoko Murakami
    J Invest Dermatol 124:670-2. 2005

Collaborators

Detail Information

Publications10

  1. ncbi Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families
    Aicha Ladjouze-Rezig
    Rheumatology Department, Ben Aknoun Hospital, Algiers, Algeria
    Joint Bone Spine 73:284-92. 2006
    ..To confirm alkaptonuria and ochronotic arthropathy diagnosis by mutation screening of the homogentisate 1,2-dioxygenase (HGD) gene. Try to establish a genotype-phenotype correlation in the five subjects with a molecular study on HGD gene...
  2. ncbi Tradition of basic and applied pigment cell research in Marseilles
    R Aquaron
    Laboratoire de Biochimie, Faculte de Medecine, Marseille, France
    Cell Mol Biol (Noisy-le-grand) 45:877-82. 1999
    ..He gives a short review of his participation in these two areas during his career in Marseilles, Yaoundé and Boston...
  3. ncbi Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation
    Robert Aquaron
    Universite de la Mediterranee, Laboratoire de Biochimie et Biologie Moleculaire, Faculte de Medecine, Marseille, France
    Neuromuscul Disord 17:235-41. 2007
    ..Our study also provides evidence for increased medical interest of malignant hyperthermia susceptibility (MHS) because of 34 McArdle disease patients, three and two affected siblings were contracture-tested and found to be positive...
  4. ncbi [Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]
    R Aquaron
    Laboratoire de Biochimie et de Biologie Moleculaire, Faculte de Medecine, Marseille, France
    Med Trop (Mars) 65:584-91. 2005
    ....
  5. ncbi Simple, reliable and fast spectrofluorometric method for determination of plasma Verteporfin (Visudyne) levels during photodynamic therapy for choroidal neovascularization
    R Aquaron
    Université de la Méditeranée, Faculte de Medecine, Laboratoire de Biochimie et Biologie Moleculaire, 27 Boulevard Jean Moulin, 13385 Marseille, Cedex 05, France
    Cell Mol Biol (Noisy-le-grand) 48:925-30. 2002
    ..The sensitivity is around 100 ng/ml and the pharmacokinetics of Verteporfin has been studied from 0 to 5 hr after infusion in six patients older than 65 years with age-related macular degeneration...
  6. ncbi Bioavailability of seaweed iodine in human beings
    Robert Aquaron
    Universite de la Mediterranee, Faculte de Medecine, Laboratoire de Biochimie, Marseille, France
    Cell Mol Biol (Noisy-le-grand) 48:563-9. 2002
    ..010, NS; 90% versus 61.5% for Laminaria hyperborea, t = 3.879, p= 0.001, S***)...
  7. ncbi Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene
    Robert Aquaron
    Laboratoire de Biochimie et Biologie Moleculaire, Faculte de Medecine, Universite de la Mediterranee Aix Marseille II, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    J Hum Genet 52:771-80. 2007
    ..7-kb mutation, a present effective population size of 10,000,000 for Cameroon and a recombination rate of 0.0031, allowed us to estimate that this mutation originated 4,100-5,645 years ago...
  8. ncbi New KIT mutations in patients with piebaldism
    Tomoko Murakami
    Department of Dermatology, Osaka City University Graduate School of Medicine, 1 4 3 Asahimachi Abeno ku, Osaka 545 8585, Japan
    J Dermatol Sci 35:29-33. 2004
    ..The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism...
  9. ncbi A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism
    Catherine Badens
    J Dermatol Sci 42:121-4. 2006
  10. ncbi Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism
    Tomoko Murakami
    J Invest Dermatol 124:670-2. 2005