R. Aquaron

发表

Atypical Porphyria cutanea tarda in a Patient with Chronic Myelogenous Leukemia

R. Bouabdallah, Y. Nordmann, J. Serratrice, 2001, Dermatology.

Purification of soluble RNA from sheep thyroid gland. Absence of acceptor activity for the iodotyrosines.

S. Lissitzky, G. Cartouzou, R. Aquaron, 1964, Biochemical and biophysical research communications.

Radioiodination of tyrosine residue(s) of ox testis and of wheat germ calmodulins.

M. Rolland, R. Aquaron, C. Dutoit, 1986, Biochimica et biophysica acta.

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

J. Deybach, H. Puy, Y. Nordmann, 2000, Human Genetics.

Thyroglobulin-iodine in thyroid tumors.

S. Lissitzky, R. Aquaron, L. Velenta, 1968, The Journal of clinical endocrinology and metabolism.

New KIT mutations in patients with piebaldism.

A. Paller, M. Ishii, A. Barnicoat, 2004, Journal of dermatological science.

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

B. Grandchamp, N. Soufir, F. Austerlitz, 2007, Journal of Human Genetics.

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

M. Brilliant, U. Francke, Y. Nakatsu, 1994, Nature Genetics.

Ligand binding to macromolecules: determination of binding parameters by combined use of ligand buffers and flow dialysis; application to calcium-binding proteins.

J. Haiech, B. Vallet, J. Demaille, 1980, Analytical biochemistry.

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

M. Brilliant, R. King, P. Lund, 1997, Human Genetics.

Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism.

M. Bitner-Glindzicz, J. Atkin, M. Ishii, 2005, The Journal of investigative dermatology.

Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women.

B. Mallet, R. Aquaron, 1983, Clinica chimica acta; international journal of clinical chemistry.

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Ludevit Kadasi, Andrea Zatkova, M. Némethová, 2012, JIMD reports.

Metal-binding properties of calmodulin.

J. Gergely, C. L. Wang, P. Leavis, 1982, European journal of biochemistry.

Thyroglobulin iodoamino acids estimation after digestion with pronase and leucylaminopeptidase.

M. Rolland, S. Lissitzky, R. Aquaron, 1970, Analytical biochemistry.

Proximal muscular weakness in elderly subjects. Report of 12 cases.

G. Serratrice, H. Roux, R. Aquaron, 1968, Journal of the neurological sciences.

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype–phenotype correlation

G. Serratrice, D. Figarella-Branger, J. Pouget, 2007, Neuromuscular Disorders.

Endemic goiter in Morocco (Skoura-Toundoute areas in the high atlas)

J. Ardissone, R. Aquaron, K. Zarrouck, 1993, Journal of endocrinological investigation.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Ludevit Kadasi, Jan Radvanszky, Andrea Zatkova, 2015, European Journal of Human Genetics.

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

B. Schäfer, X. Schneider-Yin, J. Deybach, 1998, American journal of human genetics.

Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.

S. Rodríguez de Córdoba, A. Ladjouze-Rezig, R. Aquaron, 2006, Joint, bone, spine : revue du rhumatisme.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

I. Chiarelli, B. Porfirio, E. Mayatepek, 1998, American journal of human genetics.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

S. Rodríguez de Córdoba, S. R. Córdoba, D. Beltrán-Valero de Bernabé, 1999, American journal of human genetics.

Alkaptonuria in France: past experience and lessons for the future

R. Aquaron, 2011, Journal of Inherited Metabolic Disease.

Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients

M. Peñalva, S. R. Córdoba, C. Badens, 2009 .

Bioavailability of seaweed iodine in human beings.

F. Delange, L. Ninane, P. Marchal, 2002, Cellular and molecular biology.

[Sociocultural aspects of albinism in Sub-Saharan Africa: mutilations and ritual murders committed in east Africa (Burundi and Tanzania)].

L. Kamdem, R. Aquaron, M. Djatou, 2009, Medecine tropicale : revue du Corps de sante colonial.

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.

E. Lasseaux, B. Arveiler, C. Badens, 2022, European journal of medical genetics.

Oculocutaneous albinism in Cameroon. A 15-year follow-up study.

R. Aquaron, 1990, Ophthalmic paediatrics and genetics.

Hemolysis: a fatal complication of alkaptonuria in a severe renal failure patient.

J. Grünfeld, V. Moal, L. Daniel, 2014, Clinical nephrology.

[Myopathic form of phosphofructokinase deficiency].

G. Serratrice, H. Roux, D. Gambarelli, 1969, Revue neurologique.

[Serum creatine kinase in thyroid disorders].

J. Codaccioni, R. Aquaron, G. Boeuf, 1971, Annales d'endocrinologie.

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.

S. Courrier, C. Badens, R. Aquaron, 2006, Journal of dermatological science.

Simple, reliable and fast spectrofluorometric method for determination of plasma Verteporfin (Visudyne) levels during photodynamic therapy for choroidal neovascularization.

B. Ridings, G. Fayet, R. Aquaron, 2002, Cellular and molecular biology.

Acute intermittent porphyria: rapid molecular diagnosis.

J. Deybach, H. Puy, Y. Nordmann, 1997, Cellular and molecular biology.

[Neurological, dermatological and biological manifestations of porphyria variegata. A study of 3 families of Italian origin in Marseilles area].

J. Lamoril, D. Lacombe, G. Topi, 1992, Revue neurologique (Paris).

[Oculocutaneous albinism in Cameroun. About 216 cases (author's transl)].

R. Aquaron, 1980, Revue d'epidemiologie et de sante publique.

Short-term efficacy of hyaluronic acid joint injections in a case of ochronotic arthropathy.

E. Toussirot, R. Aquaron, 2013, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Biological study of endemic goitre in Bamoun (Cameroun).

J. Bras, J. Menard, R. Aquaron, 1977 .