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Xavier Estivill

Veröffentlichungen von Xavier Estivill zu Estivill, Xavier ->
weitere Veröffentlichungen von Xavier Estivill:
Complexity in a monogenic disease (1996)
Reply to — Age of the ΔF508 cystic fibrosis mutation (1994)
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene (1994)
Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus (1988)
Cystic fibrosis in Finland: a molecular and genealogical study (1989)
Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate (1990)
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1 (1991)
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene (1993)
Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population (1993)
Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21 (1994)
Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation (1995)
A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene (1995)
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1 (1995)
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France (1996)
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (2001)
Veröffentlichungen zu Estivill, Xavier
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1
Estivill, Xavier Complexity in a monogenic disease
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 12, No. 4 (1996), p. 348-350
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1996
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2
Estivill, Xavier, Morral, Núria, ... Reply to — Age of the ΔF508 cystic fibrosis mutation
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 8, No. 3 (1994), p. 216-218
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1994
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3
Lázaro, Conxi, Gaona, Antonia, ... Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene
in: Human genetics , ISSN 1432-1203, Vol. 93 (3. 1994), p. 351-352
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1994
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4
Stanier, Philip, Estivill, Xavier, ... Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus
in: Human genetics , ISSN 1432-1203, Vol. 80 (3. 1988), p. 309-310
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1988
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5
Kere, Juha, Norio, Reijo, ... Cystic fibrosis in Finland: a molecular and genealogical study
in: Human genetics , ISSN 1432-1203, Vol. 83 (1. 1989), p. 20-25
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1989
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6
Kere, Juha, Savilahti, Erkki, ... Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate
in: Human genetics , ISSN 1432-1203, Vol. 85 (4. 1990), p. 413-415
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1990
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7
Estivill, Xavier, Lázaro, Conxi, ... Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1
in: Human genetics , ISSN 1432-1203, Vol. 88 (2. 1991), p. 185-188
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1991
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8
Lázaro, Conxi, Gaona, Antonia, ... A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene
in: Human genetics , ISSN 1432-1203, Vol. 92 (4. 1993), p. 429-430
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1993
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9
Fuentes, Juan-José, Banchs, Isabel, ... Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population
in: International journal of legal medicine , ISSN 1437-1596, Vol. 105 (5. 1993), p. 271-277
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1993
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10
Bosch, Assumpció, Wiemann, Stefan, ... Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21
in: Human genetics , ISSN 1432-1203, Vol. 93 (3. 1994), p. 359-360
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1994
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11
Lázaro, Conxi, Kruyer, Helena, ... Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation
in: Human genetics , ISSN 1432-1203, Vol. 96 (3. 1995), p. 361-363
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1995
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12
Soria, José Manuel, Morell, Marta, ... A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene
in: Human genetics , ISSN 1432-1203, Vol. 96 (2. 1995), p. 243-244
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1995
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13
Bosch, Assumpció, Guimerà, Jordi, ... Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1
in: Human genetics , ISSN 1432-1203, Vol. 95 (5. 1995), p. 596-598
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1995
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14
Claustres, M., Desgeorges, Marie, ... CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
in: Human genetics , ISSN 1432-1203, Vol. 98 (3. 1996), p. 336-344
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1996
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15
Serra, Eduard, Rosenbaum, Thorsten, ... Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 28, No. 3 (2001), p. 294-296
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2001
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16
Soria, José Manuel, Fontcuberta, Jordi, ... Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency
in: Human genetics , ISSN 1432-1203, Vol. 92 (5. 1993), p. 506-508
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1993
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17
Casals, Teresa, Nunes, Virginia, ... Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area
in: Human genetics , ISSN 1432-1203, Vol. 91 (1. 1993), p. 66-70
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1993
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18
Kere, Juha, Estivill, Xavier, ... Cystic fibrosis in a low-incidence population: two major mutations in Finland
in: Human genetics , ISSN 1432-1203, Vol. 93 (2. 1994), p. 162-166
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1994
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19
Bosch, Assumpció, Guimerà, Jordi, ... Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3
in: Human genetics , ISSN 1432-1203, Vol. 95 (3. 1995), p. 367-369
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1995
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20
Bosch, Assumpció, Wiemann, Stefan, ... Five new microsatellite polymorphisms at the q21 region of human chromosome 21
in: Human genetics , ISSN 1432-1203, Vol. 95 (1. 1995), p. 119-122
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1995