Robert R. AQUARON: search on Z-Library

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1

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, Jean-louis Bergé-Lefranc, Jean-Francois Pellissier, Marie-France Montfort, Michèle Mayan, Dominique Figarella-Branger, Michelle Coquet, Georges Serratrice, Jean Pouget

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 103 KB

english, 2007

2

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

Neelu Puri, Donna Durham-Pierre, Robert Aquaron, Patricia M. Lund, Richard A. King, M. H. Brilliant

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

3

Le rhumatisme alcaptonurique en Algérie : étude clinique, radiologique, biologique et moléculaire : à propos de 14 cas dans 11 familles

Aicha Ladjouze-Rezig, Santiago Rodriguez de Cordoba, Robert Aquaron

Journal:

Revue du Rhumatisme

Year:

2006

Language:

french

File:

PDF, 303 KB

french, 2006

4

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

Aquaron, Robert, de Cordoba, Santiago, Penalva, Miguel, Badens, Catherine, Roux, Hubert

Journal:

Current Rheumatology Reviews

Year:

2009

Language:

english

File:

PDF, 354 KB

english, 2009

5

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, Nadem Soufir, Jean-Louis Bergé-Lefranc, Catherine Badens, Frederic Austerlitz, Bernard Grandchamp

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 228 KB

english, 2007

6

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

Badens, Catherine, Courrier, Sébastien, Aquaron, Robert

Journal:

Journal of Dermatological Science

Year:

2006

Language:

english

File:

PDF, 265 KB

english, 2006

7

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

Aicha Ladjouze-Rezig, Santiago Rodriguez de Cordoba, Robert Aquaron

Journal:

Joint Bone Spine

Year:

2006

Language:

english

File:

PDF, 284 KB

english, 2006

8

Analysis of KIT, SCF, and Initial Screening of SLUG in Patients with Piebaldism

Murakami, Tomoko, Hosomi, Naoko, Oiso, Naoki, Giovannucci-Uzielli, Maria Luisa, Aquaron, Robert, Mizoguchi, Masako, Kato, Atsushi, Ishii, Masamitsu, Bitner-Glindzicz, Maria, Barnicoat, Angela, Wilson,

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

9

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

Catherine Dutoit, Marcel Rolland, Robert Aquaron

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Year:

1986

Language:

english

File:

PDF, 524 KB

english, 1986

10

Metal-Binding Properties of Calmodulin

Chih-Lueh A. WANG, Robert R. AQUARON, Paul C. LEAVIS, John GERGELY

Journal:

Year:

1982

Language:

english

File:

PDF, 590 KB

english, 1982

11

New KIT mutations in patients with piebaldism

Murakami, Tomoko, Fukai, Kazuyoshi, Oiso, Naoki, Hosomi, Naoko, Kato, Atsushi, Garganta, Cheryl, Barnicoat, Angela, Poppelaars, Francis, Aquaron, Robert, Paller, Amy S, Ishii, Masamitsu

Journal:

Journal of Dermatological Science

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

12

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

Guy Cartouzou, Robert Aquaron, Serge Lissitzky

Journal:

Biochemical and Biophysical Research Communications

Year:

1964

Language:

english

File:

PDF, 237 KB

english, 1964

13

Thyroglobulin iodoamino acids estimation after digestion with pronase and leucylaminopeptidase

Marcel Rolland, Robert Aquaron, Serge Lissitzky

Journal:

Analytical Biochemistry

Year:

1970

Language:

english

File:

PDF, 574 KB

english, 1970

14

Alcaptonurie, ochronose et arthropathie ochronotique

Aicha Ladjouze-Rezig, Robert Aquaron

Journal:

Revue du Rhumatisme Monographies

Year:

2011

File:

PDF, 347 KB

2011

15

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

Jacques Haiech, Bernard Vallet, Robert Aquaron, Jacques G. Demaille

Journal:

Analytical Biochemistry

Year:

1980

Language:

english

File:

PDF, 438 KB

english, 1980

16

Thyroglobulin-Iodine in Thyroid Tumors

VALENTA, LUBOMIR, LISSITZKY, SERGE, AQUARON, ROBERT

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1968

Language:

english

File:

PDF, 400 KB

english, 1968

17

Protein-bound iodine and hormonal iodine after ioxitalamic acid

Journal:

Clinica Chimica Acta

Year:

1972

Language:

english

File:

PDF, 403 KB

english, 1972

18

Alkaptonuria in France: past experience and lessons for the future

Robert Raphael Aquaron

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 203 KB

english, 2011

19

Short-Term Efficacy of Hyaluronic Acid Joint Injections in a Case of Ochronotic Arthropathy

Toussirot, Éric, Aquaron, Robert

Journal:

JCR Journal of Clinical Rheumatology

Year:

2013

Language:

english

File:

PDF, 585 KB

english, 2013

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