Jean Frézal

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Publications in SciGraph latest 50 shown

  • 2000-09 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition in HUMAN GENETICS
  • 1996-12 Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis in NATURE GENETICS
  • 1995-04 Exclusion of the cone-specific α-subunit of the transducin gene in Stargardt's disease in HUMAN GENETICS
  • 1995-03 Reply to “The question of heterogeneity in Marfan syndrome” in NATURE GENETICS
  • 1994-02 Corrigendum: A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 in NATURE GENETICS
  • 1993-11 A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 in NATURE GENETICS
  • 1993 Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis in RETINAL DEGENERATION
  • 1991-02 Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in HUMAN GENETICS
  • 1991-01 Assignment of the human CD9 gene to chromosome 12 (region P13) by use of human specific DNA probes in HUMAN GENETICS
  • 1990-12 Assignment of human tracheobronchial mucin gene(s) to 11p15 and a tracheobronchial mucin-related sequence to chromosome 13 in HUMAN GENETICS
  • 1990-10 Clinical and genetic heterogeneity in retinitis pigmentosa in HUMAN GENETICS
  • 1990-05 Localization of the human oncogene SPI1 on chromosome 11, region p11.22 in HUMAN GENETICS
  • 1990-04 Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q in NATURE
  • 1989-03 Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1989-02 Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4) in HUMAN GENETICS
  • 1989-02 The human homologues of Fim1, Fim2/c-Fms, and Fim3, three retroviral integration regions involved in mouse myeloblastic leukemias, are respectively located on chromosomes 6p23, 5q33, and 3q27 in HUMAN GENETICS
  • 1989 Clinical Approach to Inherited Metabolic Diseases in the Neonatal Period: A 20-year Survey in STUDIES IN INHERITED METABOLIC DISEASE
  • 1988-12 Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3 in HUMAN GENETICS
  • 1988-12 Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome in HUMAN GENETICS
  • 1988-12 Linkage studies in X-linked Alport's syndrome in HUMAN GENETICS
  • 1988-11 Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11 in HUMAN GENETICS
  • 1988-04 Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13 in HUMAN GENETICS
  • 1988-02 Localization of the active gene of aldolase on chromosome 16, and two aldolase A pseudogenes on chromosomes 3 and 10 in HUMAN GENETICS
  • 1988-01 Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter in HUMAN GENETICS
  • 1987 Clinical Approach to Inherited Peroxisomal Disorders in HUMAN GENETICS
  • 1985-11 A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7 in NATURE
  • 1985-09 Maple syrup urine disease: Two different forms within a single family in HUMAN GENETICS
  • 1984-11 Human genes for glutathione S-transferases in HUMAN GENETICS
  • 1984-03 Hudson memorial lecture in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1984 Hudson Memorial Lecture Neonatal Management of Organic Acidurias. Clinical Update in ORGANIC ACIDURIAS
  • 1983-11 Coreactivation of four inactive X genes in a hamster × human hybrid and persistence of late replication of reactivated X chromosome in SOMATIC CELL GENETICS
  • 1983-10 One gene, several messages. From multifunctional proteins to endogenous opiates in HUMAN GENETICS
  • 1983-06 Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1982-03 Letter to the Editor: Enzyme Replacement Therapy by Transplantation of HLA-Compatible Fibroblasts in Sanfilippo Syndrome: Another Trial in PEDIATRIC RESEARCH
  • 1982-01 Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency in JOURNAL OF CLINICAL IMMUNOLOGY
  • 1981-12 Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts in HUMAN GENETICS
  • 1981-12 Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder in HUMAN GENETICS
  • 1981-12 Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1981-10 Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis in EUROPEAN JOURNAL OF PEDIATRICS
  • 1981-08 Regional assignment of arylsulfatase A, mitochondrial aconitase and NADH-cytochrome b5 reductase by somatic cell hybridization in HUMAN GENETICS
  • 1980-09 Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16 in HUMAN GENETICS
  • 1980 Genetic Aspects of Artificial Insemination in HUMAN ARTIFICIAL INSEMINATION AND SEMEN PRESERVATION
  • 1979-11 Localisation du gene de l'α-glucosidase acide (α-GLUa) sur le segment q21→qter du chromosome 17 par l'hybridation cellulaire interspecifique in HUMAN GENETICS
  • 1979-10 Localisation du gène phosphoglycolate phosphatase (PGP) sur le chromosome 16 par l'hybridation cellulaire interspecifique in HUMAN GENETICS
  • 1979-02 Congenital glaucoma: Genetic models in HUMAN GENETICS
  • 1979-01 Confirmation of the assignment of the gene for arylsulfatase A to chromosome 22 using somatic cell hybrids in HUMAN GENETICS
  • 1978-01 Localisation régionale des gènes humains LDHB, TPI, ENO2, PepB, PGK, αGALA, G6PD et HGPRT par l'hybridation cellulaire interspécifique in HUMAN GENETICS
  • 1978 Introduction to Genetic Analysis in PRINCIPLES AND PRENATAL GROWTH
  • 1977-01 Localisation régionale des gènes humains IDHS, MDHS, PGK, α-GAL, G6PD par l'hybridation cellulaire interspécifique in HUMAN GENETICS
  • 1976 Food and Genetic Development in FOOD, MAN, AND SOCIETY
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