Jean Louis Serre


Ontology type: schema:Person     


Person Info

NAME

Jean Louis

SURNAME

Serre

Publications in SciGraph latest 50 shown

  • 2015-10 Genome-wide inbreeding estimation within Lebanese communities using SNP arrays in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-10 Genome-wide inbreeding estimation within Lebanese communities using SNP arrays in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-02 A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22 in NEUROGENETICS
  • 2009-12 Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles in BMC MEDICAL GENETICS
  • 2008-10 A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12 in NEUROGENETICS
  • 2008-05 A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein in HUMAN GENETICS
  • 2001-11 Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-07 A molecular approach to dominance in hypophosphatasia in HUMAN GENETICS
  • 1998-07 Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1997-09 Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects in HUMAN GENETICS
  • 1996-04 Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome in HUMAN GENETICS
  • 1994-09 A polymorphic poly-A sequence in the 5′ region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11β-hydroxylase genes defects in HUMAN GENETICS
  • 1994-06 FRAXAC2 instability in NATURE GENETICS
  • 1991 Toward a Geographical History of the Predominant and Secondary Mutations in Europe in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1990-09 The cystic fibrosis ΔF508 mutation in the French population in HUMAN GENETICS
  • 1990-09 Genotyping of the Spanish cystic fibrosis population at the ΔF508 mutation site and RFLP linked loci in HUMAN GENETICS
  • 1990-04 Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics in HUMAN GENETICS
  • 1989-02 Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma in HUMAN GENETICS
  • 1988-07 Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient in HUMAN GENETICS
  • 1986-10 Some trends in medical populations genetics in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 1983 Genome and Chromosome Mutations Balance Between Appearance and Elimination in ISSUES AND REVIEWS IN TERATOLOGY
  • 1978-01 Common and uncommon immunoglobulin haplotypes among Lebanese communities in HUMAN GENETICS
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