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X. Estivill

Veröffentlichungen von X. Estivill zu Estivill, X. ->
weitere Veröffentlichungen von X. Estivill:
Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis (1992)
Multiplex PCR amplification of three microsatellites within the CFTR gene (1992)
Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13) (1986)
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (1992)
Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome (1996)
Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA (1997)
CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover (1991)
High conservation of sequences involved in cystic fibrosis mutations in five mammalian species (1991)
Isolation and Characterization of 14 CA-Repeat Microsatellites from Human Chromosome 21 (1993)
Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus (1989)
Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families (1990)
A tetranucleotide repeat polymorphism in the cystic fibrosis gene (1991)
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (1992)
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene (1995)
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients (1997)
Veröffentlichungen zu Estivill, X.
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1
Lazaro, C., Estivill, X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis
in: Molecular and Cellular Probes, in: Molecular and Cellular Probes . - Amsterdam : Elsevier, ISSN 0890-8508, ZDB-ID 1471391-3 Vol. 6, No. 5 (1992), p. 357-359
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1992
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2
Morral, N., Estivill, X. Multiplex PCR amplification of three microsatellites within the CFTR gene
in: Genomics, in: Genomics . - Amsterdam : Elsevier, ISSN 0888-7543, ZDB-ID 1468023-3 Vol. 13, No. 4 (1992), p. 1362-1364
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1992
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3
Estivill, X., Schmidtke, J., ... Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13)
in: Human genetics , ISSN 1432-1203, Vol. 74 (3. 1986), p. 320-322
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1986
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4
Chillón, M., Palacio, A., ... A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
in: Human genetics , ISSN 1432-1203, Vol. 90 (4. 1992), p. 474-474
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1992
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5
Llevadot, R., Scambler, P., ... Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome
in: Mammalian genome , ISSN 1432-1777, Vol. 7 (12. 1996), p. 911 -914
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1996
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6
Fuentes, Juan-José, Pucharcós, Carles, ... Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA
in: Human genetics , ISSN 1432-1203, Vol. 101 (3. 1997), p. 346-350
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1997
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7
Morral, N., Nunes, V., ... CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover
in: Genomics, in: Genomics . - Amsterdam : Elsevier, ISSN 0888-7543, ZDB-ID 1468023-3 Vol. 10, No. 3 (1991), p. 692-698
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1991
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8
Gasparini, P., Nunes, V., ... High conservation of sequences involved in cystic fibrosis mutations in five mammalian species
in: Genomics, in: Genomics . - Amsterdam : Elsevier, ISSN 0888-7543, ZDB-ID 1468023-3 Vol. 10, No. 4 (1991), p. 1070-1072
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1991
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9
Bosch, A., Nunes, V., ... Isolation and Characterization of 14 CA-Repeat Microsatellites from Human Chromosome 21
in: Genomics, in: Genomics . - Amsterdam : Elsevier, ISSN 0888-7543, ZDB-ID 1468023-3 Vol. 18, No. 1 (1993), p. 151-155
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1993
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10
Nunes, V., Casals, T., ... Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus
in: Human genetics , ISSN 1432-1203, Vol. 83 (3. 1989), p. 305-306
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1989
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11
Chillón, M., Nunes, V., ... Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families
in: Human genetics , ISSN 1432-1203, Vol. 85 (4. 1990), p. 396-397
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1990
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12
Gasparini, P., Dognini, M., ... A tetranucleotide repeat polymorphism in the cystic fibrosis gene
in: Human genetics , ISSN 1432-1203, Vol. 86 (6. 1991), p. 625-625
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1991
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13
Morral, N., Girbau, E., ... Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
in: Human genetics , ISSN 1432-1203, Vol. 88 (3. 1992), p. 356-356
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1992
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14
Barceló, A., Girós, M., ... De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene
in: Human genetics , ISSN 1432-1203, Vol. 95 (2. 1995), p. 235-237
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1995
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15
Pujana, Miguel Angel, Martorell, Lourdes, ... Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients
in: Human genetics , ISSN 1432-1203, Vol. 99 (6. 1997), p. 772-775
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1997
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16
Casals, Teresa, Ramos, Maria D., ... High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes
in: Human genetics , ISSN 1432-1203, Vol. 101 (3. 1997), p. 365-370
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1997
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17
Mallolas, J., Antònia Vilaseca, M., ... Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation
in: Human genetics , ISSN 1432-1203, Vol. 105 (5. 1999), p. 468-473
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1999
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18
Barrientos, A., Casademont, J., ... The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence
in: Human genetics , ISSN 1432-1203, Vol. 96 (2. 1995), p. 225-228
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1995
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19
Ramos, M. D., Lalueza, C., ... Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness
in: Human genetics , ISSN 1432-1203, Vol. 96 (2. 1995), p. 205-212
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1995
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20
Pujana, Miguel Angel, Gratacós, Monica, ... Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients
in: Human genetics , ISSN 1432-1203, Vol. 101 (1. 1997), p. 18-21
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1997