- Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 familiesAicha 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...
- Tradition of basic and applied pigment cell research in MarseillesR 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...
- Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlationRobert 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...
- [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....
- Simple, reliable and fast spectrofluorometric method for determination of plasma Verteporfin (Visudyne) levels during photodynamic therapy for choroidal neovascularizationR 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...
- Bioavailability of seaweed iodine in human beingsRobert 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***)...
- 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 geneRobert 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...
- New KIT mutations in patients with piebaldismTomoko 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...
- A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinismCatherine Badens
J Dermatol Sci 42:121-4. 2006
- Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldismTomoko Murakami
J Invest Dermatol 124:670-2. 2005