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Results: 1-25 | 26-36
Results: 1-25/36
CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE
Authors: TANNER SM LAPORTE J GUIRAUDCHAUMEIL C LIECHTIGALLATI S
Citation: Sm. Tanner et al., CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE, Human mutation, 11(1), 1998, pp. 62-68
CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE
Authors: TANNER SM LAPORTE J GUIRAUDCHAUMEIL C LIECHTIGALLATI S
Citation: Sm. Tanner et al., CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE, Human mutation, 11(1), 1998, pp. 62-68
GENOMIC ORGANIZATION OF THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY
Authors: LAPORTE J GUIRAUDCHAUMEIL C TANNER SM BLONDEAU F HU LJ VICAIRE S LIECHTIGALLATI S MANDEL JL
Citation: J. Laporte et al., GENOMIC ORGANIZATION OF THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY, European journal of human genetics, 6(4), 1998, pp. 325-330
SCREENING OF THE FCEPSILONRI-BETA GENE IN A SWISS ASTHMA POPULATION -CHARACTERIZATION OF 9 NEW MUTATIONS
Authors: ROHRBACH M KRAEMER R LIECHTIGALLATI S
Citation: M. Rohrbach et al., SCREENING OF THE FCEPSILONRI-BETA GENE IN A SWISS ASTHMA POPULATION -CHARACTERIZATION OF 9 NEW MUTATIONS, European journal of human genetics, 6, 1998, pp. 4093-4093
CHARACTERIZATION OF MUTATIONS IN THE CFTR GENE USING MESSENGER-RNA DERIVED FROM NASAL EPITHELIAL-CELLS, BUCCAL EPITHELIAL-CELLS AND SAMPLESOF A BRONCHOALVEOLAR LAVAGE
Authors: BENNETT LC SCHIBLER A KRAEMER R LIECHTIGALLATI S
Citation: Lc. Bennett et al., CHARACTERIZATION OF MUTATIONS IN THE CFTR GENE USING MESSENGER-RNA DERIVED FROM NASAL EPITHELIAL-CELLS, BUCCAL EPITHELIAL-CELLS AND SAMPLESOF A BRONCHOALVEOLAR LAVAGE, European journal of human genetics, 6, 1998, pp. 4109-4109
GENOTYPE-PHENOTYPE ASSOCIATION IN INFANTS WITH CYSTIC-FIBROSIS AT THETIME OF DIAGNOSIS
Authors: KRAEMER R BIRRER P LIECHTIGALLATI S
Citation: R. Kraemer et al., GENOTYPE-PHENOTYPE ASSOCIATION IN INFANTS WITH CYSTIC-FIBROSIS AT THETIME OF DIAGNOSIS, Pediatric research, 44(6), 1998, pp. 920-926
A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY
Authors: JAKSCH M HOFMANN S KLEINLE S LIECHTIGALLATI S PONGRATZ DE MULLERHOCKER J JEDELE KB MEITINGER T GERBITZ KD
Citation: M. Jaksch et al., A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY, Journal of Medical Genetics, 35(11), 1998, pp. 895-900
A NEW POLYMORPHIC RESTRICTION SITE IN THE HUMAN 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-2 GENE
Authors: SMOLENICKA Z BACH E SCHAER A LIECHTIGALLATI S FREY BM FREY FJ FERRARI P
Citation: Z. Smolenicka et al., A NEW POLYMORPHIC RESTRICTION SITE IN THE HUMAN 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-2 GENE, The Journal of clinical endocrinology and metabolism, 83(5), 1998, pp. 1814-1817
2 SILENT POLYMORPHISMS OF THE PLATELET GPIA IIA RECEPTOR-ASSOCIATED WITH A VARIATION OF RECEPTOR DENSITY AND THE RISK FOR MYOCARDIAL-INFARCTION/
Authors: MOSHFEGH K REDONDO M WUILLEMIN WA LEMMLE B BEER JH LIECHTIGALLATI S MEYER BJ
Citation: K. Moshfegh et al., 2 SILENT POLYMORPHISMS OF THE PLATELET GPIA IIA RECEPTOR-ASSOCIATED WITH A VARIATION OF RECEPTOR DENSITY AND THE RISK FOR MYOCARDIAL-INFARCTION/, Circulation, 98(17), 1998, pp. 2380-2380
A NOVEL MITOCHONDRIAL TRNA(PHE) MUTATION INHIBITING ANTICODON STEM FORMATION ASSOCIATED WITH A MUSCLE DISEASE
Authors: KLEINLE S SCHNEIDER V MOOSMANN P BRANDNER S KRAHENBUHL S LIECHTIGALLATI S
Citation: S. Kleinle et al., A NOVEL MITOCHONDRIAL TRNA(PHE) MUTATION INHIBITING ANTICODON STEM FORMATION ASSOCIATED WITH A MUSCLE DISEASE, Biochemical and biophysical research communications, 247(1), 1998, pp. 112-115
ORNITHINE TRANSCARBAMYLASE DEFICIENCY - 10 NEW MUTATIONS AND HIGH PROPORTION OF DE-NOVO MUTATION IN HETEROZYGOUS FEMALES
Authors: LEIBUNDGUT EO LIECHTIGALLATI S COLOMBO JP WERMUTH B
Citation: Eo. Leibundgut et al., ORNITHINE TRANSCARBAMYLASE DEFICIENCY - 10 NEW MUTATIONS AND HIGH PROPORTION OF DE-NOVO MUTATION IN HETEROZYGOUS FEMALES, Human mutation, 9(5), 1997, pp. 409-411
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY
Authors: LAPORTE J GUIRAUDCHAUMEIL C VINCENT MC MANDEL JL TANNER SM LIECHTIGALLATI S WALLGRENPETTERSSON C DAHL N KRESS W BOLHUIS PA FARDEAU M SAMSON F BERTINI E
Citation: J. Laporte et al., MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY, Human molecular genetics, 6(9), 1997, pp. 1505-1511
DETECTION AND CHARACTERIZATION OF MITOCHONDRIAL-DNA REARRANGEMENTS INPEARSON AND KEARNS-SAYRE SYNDROMES BY LONG PCR
Authors: KLEINLE S WIESMANN U SUPERTIFURGA A KRAHENBUHL S BOLTSHAUSER E REICHEN J LIECHTIGALLATI S
Citation: S. Kleinle et al., DETECTION AND CHARACTERIZATION OF MITOCHONDRIAL-DNA REARRANGEMENTS INPEARSON AND KEARNS-SAYRE SYNDROMES BY LONG PCR, Human genetics, 100(5-6), 1997, pp. 643-650
NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T CHEVALIERPORST F BRAGGER C BURGER R EINSCHENK I LIECHTIGALLATI S MORRIS M SCHORDERET D THONNEY F MOSER H MALIK N
Citation: M. Hergersberg et al., NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE, Human genetics, 100(2), 1997, pp. 220-223
MATERNALLY INHERITED HEARING-LOSS AND MYOCLONIC EPILEPSY WITH A POINTMUTATION IN THE MITOCHONDRIAL TRANSFER-RNA SER(UCN) GENE
Authors: KLEINLE S RAMELLI GP LIECHTIGALLATI S
Citation: S. Kleinle et al., MATERNALLY INHERITED HEARING-LOSS AND MYOCLONIC EPILEPSY WITH A POINTMUTATION IN THE MITOCHONDRIAL TRANSFER-RNA SER(UCN) GENE, American journal of human genetics, 61(4), 1997, pp. 1822-1822
ORNITHINE TRANSCARBAMYLASE DEFICIENCY - CHARACTERIZATION OF GENE-MUTATIONS AND POLYMORPHISMS
Authors: LEIBUNDGUT EO WERMUTH B COLOMBO JP LIECHTIGALLATI S
Citation: Eo. Leibundgut et al., ORNITHINE TRANSCARBAMYLASE DEFICIENCY - CHARACTERIZATION OF GENE-MUTATIONS AND POLYMORPHISMS, Human mutation, 8(4), 1996, pp. 333-339
COMBINED 3-METHYLGLUTACONIC AND 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA WITH ENDOCARDIAL FIBROELASTOSIS AND DILATATIVE CARDIOMYOPATHY IN MALE AND FEMALE SIBLINGS WITH PARTIAL DEFICIENCY OF COMPLEX II III IN FIBROBLASTS/
Authors: RUESCH S KRAHENBUHL S KLEINLE S LIECHTIGALLATI S SCHAFFNER T WERMUTH B WEBER J WIESMANN UN
Citation: S. Ruesch et al., COMBINED 3-METHYLGLUTACONIC AND 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA WITH ENDOCARDIAL FIBROELASTOSIS AND DILATATIVE CARDIOMYOPATHY IN MALE AND FEMALE SIBLINGS WITH PARTIAL DEFICIENCY OF COMPLEX II III IN FIBROBLASTS/, Enzyme & protein, 49(5-6), 1996, pp. 321-329
X-LINKED MYOTUBULAR MYOPATHY - REFINEMENT OF THE CRITICAL GENE REGION
Authors: SMOLENICKA Z LAPORTE J HU L DAHL N FITZPATRICK J KRESS W LIECHTIGALLATI S
Citation: Z. Smolenicka et al., X-LINKED MYOTUBULAR MYOPATHY - REFINEMENT OF THE CRITICAL GENE REGION, Neuromuscular disorders, 6(4), 1996, pp. 275-281
A 900-KB COSMID CONTIG AND 10 NEW TRANSCRIPTS WITHIN THE CANDIDATE REGION FOR MYOTUBULAR MYOPATHY (MTM1)
Authors: KIOSCHIS P ROGNER UC PICK E KLAUCK SM HEISS N SIEBENHAAR R KORN B COY JF LAPORTE J LIECHTIGALLATI S POUSTKA A
Citation: P. Kioschis et al., A 900-KB COSMID CONTIG AND 10 NEW TRANSCRIPTS WITHIN THE CANDIDATE REGION FOR MYOTUBULAR MYOPATHY (MTM1), Genomics, 33(3), 1996, pp. 365-373
DETECTION OF A NEW POLYMORPHISM IN THE PLASMA-MEMBRANE CA2-3 GENE ANDITS EXCLUSION AS A CANDIDATE FOR X-LINKED MYOTUBULAR MYOPATHY (MTM1)(ATPASE ISOFORM)
Authors: SMOLENICKA Z GUERINI D CARAFOLI E KRESS W LIECHTIGALLATI S
Citation: Z. Smolenicka et al., DETECTION OF A NEW POLYMORPHISM IN THE PLASMA-MEMBRANE CA2-3 GENE ANDITS EXCLUSION AS A CANDIDATE FOR X-LINKED MYOTUBULAR MYOPATHY (MTM1)(ATPASE ISOFORM), Human genetics, 98(6), 1996, pp. 681-684
IDENTIFICATION OF 4 NOVEL SPLICE-SITE MUTATIONS IN THE ORNITHINE TRANSCARBAMYLASE GENE
Authors: LEIBUNDGUT EO WERMUTH B COLOMBO JP LIECHTIGALLATI S
Citation: Eo. Leibundgut et al., IDENTIFICATION OF 4 NOVEL SPLICE-SITE MUTATIONS IN THE ORNITHINE TRANSCARBAMYLASE GENE, Human genetics, 97(2), 1996, pp. 209-213
DIFFERENTIAL EXPRESSION OF NA-ANTIPORTER MESSENGER-RNA IN BILIARY EPITHELIAL-CELLS AND IN HEPATOCYTES(,H+)
Authors: MARTI U ELSING C RENNER EL LIECHTIGALLATI S REICHEN J
Citation: U. Marti et al., DIFFERENTIAL EXPRESSION OF NA-ANTIPORTER MESSENGER-RNA IN BILIARY EPITHELIAL-CELLS AND IN HEPATOCYTES(,H+), Journal of hepatology, 24(4), 1996, pp. 498-502
EFFICIENT AND RELIABLE PCR-BASED DETECTION OF THE ABO BLOOD-GROUP ALLELES - GENOTYPING ON STAMPS AND OTHER BIOLOGICAL EVIDENCE SAMPLES
Authors: LIECHTIGALLATI S NEESER D
Citation: S. Liechtigallati et D. Neeser, EFFICIENT AND RELIABLE PCR-BASED DETECTION OF THE ABO BLOOD-GROUP ALLELES - GENOTYPING ON STAMPS AND OTHER BIOLOGICAL EVIDENCE SAMPLES, Journal of forensic sciences, 41(4), 1996, pp. 653-657
NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS
Authors: DEVOTO M ROMEO G TENKATE LP CHEVALIER F BOZON D ESTIVILL X CASALS T ABELIOVICH D LERER I PADOAN R SEIA M HILL A LIECHTIGALLATI S KRAMER R BEARDS F DEAR S DALLAPICCOLA B SANGIUOLO F MACEK M MACEK M MCMAHON R CONNARTY M HARVEY JF CLAUSTRES M DESGEORGES M DEVRIES R SCHEFFER H CANKIKLAIN N AUDREZET MP BIENVENU T CHOMEL JC DZIADEK V TUMMLER B SCHWARZ M HAWORTH A BENITEZ J FERNANDEZ E MAZURCZAK T BAL J CREMONESI L RONCHETTO P CASHMAN SM FEREC C CUPPENS H BAUER I ANGELICHEVA D WAGNER K PACHECO P BONIZZATO A WITT M MCMAHON CJ RAVNIKGLAVAC M REIS A STUHRMANN M GARNERONE S CURTIS A GRUNING G KANAVAKIS E KLAASSEN T GRADE T
Citation: M. Devoto et al., NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 3(5), 1995, pp. 324-325
Risultati: 1-25 | 26-36