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Results: 1-25 | 26-50 | 51-55
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IDENTIFICATION OF FRAGMENTS OF HUMAN TRANSCRIPTS FROM A DEFINED CHROMOSOMAL REGION - REPRESENTATIONAL DIFFERENCE ANALYSIS OF SOMATIC-CELL HYBRIDS
Authors: GROOT PC VANOOST BA
Citation: Pc. Groot et Ba. Vanoost, IDENTIFICATION OF FRAGMENTS OF HUMAN TRANSCRIPTS FROM A DEFINED CHROMOSOMAL REGION - REPRESENTATIONAL DIFFERENCE ANALYSIS OF SOMATIC-CELL HYBRIDS, Nucleic acids research, 26(19), 1998, pp. 4476-4481
DUPLICATION OF THE PROTEOLIPID PROTEIN GENE IS THE MAJOR CAUSE OF PELIZAEUS-MERZBACHER-DISEASE
Authors: SISTERMANS EA DECOO RFM DEWIJS IJ VANOOST BA
Citation: Ea. Sistermans et al., DUPLICATION OF THE PROTEOLIPID PROTEIN GENE IS THE MAJOR CAUSE OF PELIZAEUS-MERZBACHER-DISEASE, Neurology, 50(6), 1998, pp. 1749-1754
A MITOCHONDRIAL TRNA(VAL) GENE MUTATION (G1642A) IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES
Authors: DECOO IFM SISTERMANS EA DEWIJS IJ CATSMANBERREVOETS C BUSCH HFM SCHOLTE HR DEKLERK JBC VANOOST BA SMEETS HJM
Citation: Ifm. Decoo et al., A MITOCHONDRIAL TRNA(VAL) GENE MUTATION (G1642A) IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES, Neurology, 50(1), 1998, pp. 293-295
MOLECULAR-CLONING AND CHARACTERIZATION OF THE HUMAN MITOCHONDRIAL NADH-OXIDOREDUCTASE 10-KDA GENE (NDUFV3)
Authors: DECOO RFM BUDDIGER P SMEETS HJM VANOOST BA
Citation: Rfm. Decoo et al., MOLECULAR-CLONING AND CHARACTERIZATION OF THE HUMAN MITOCHONDRIAL NADH-OXIDOREDUCTASE 10-KDA GENE (NDUFV3), Genomics, 45(2), 1997, pp. 434-437
A PCR TEST FOR PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE-SYNDROME ON DNA FROM BLOOD-SAMPLES
Authors: DECOO IFM GUSSINKLO T ARTS PJW VANOOST BA SMEETS HJM
Citation: Ifm. Decoo et al., A PCR TEST FOR PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE-SYNDROME ON DNA FROM BLOOD-SAMPLES, Journal of the neurological sciences, 149(1), 1997, pp. 37-40
AUTOSOMAL RECESSIVE NEPHROGENIC DIABETES-INSIPIDUS CAUSED BY AN AQUAPORIN-2 MUTATION
Authors: HOCHBERG Z VANLIEBURG A EVEN L BRENNER B LANIR N VANOOST BA KNOERS NVAM
Citation: Z. Hochberg et al., AUTOSOMAL RECESSIVE NEPHROGENIC DIABETES-INSIPIDUS CAUSED BY AN AQUAPORIN-2 MUTATION, The Journal of clinical endocrinology and metabolism, 82(2), 1997, pp. 686-689
MOLECULAR-GENETIC ANALYSIS OF COMPLEX-I GENES IN PATIENTS WITH A DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN
Authors: BUDDIGER PAL RUITENBEEK W SCHOLTE HR VANOOST BA SMEETS HJM DECOO IFM
Citation: Pal. Buddiger et al., MOLECULAR-GENETIC ANALYSIS OF COMPLEX-I GENES IN PATIENTS WITH A DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN, American journal of human genetics, 61(4), 1997, pp. 1779-1779
PARKINSONISM-MELAS OVERLAP SYNDROME-ASSOCIATED WITH A MITOCHONDRIAL CYTOCHROME-B FRAMESHIFT MUTATION
Authors: DECOO RFM RENIER WO RUITENBEEK W TERLAAK HJ BAKKER M VANOOST BA SMEETS HJM
Citation: Rfm. Decoo et al., PARKINSONISM-MELAS OVERLAP SYNDROME-ASSOCIATED WITH A MITOCHONDRIAL CYTOCHROME-B FRAMESHIFT MUTATION, American journal of human genetics, 61(4), 1997, pp. 1790-1790
MUTATION ANALYSIS OF THE ASPARTOACYLASE GENE IN NON-ASHKENAZI JEWISH PATIENTS WITH CANAVAN-DISEASE - IDENTIFICATION OF 6 NEW MUTATIONS
Authors: SISTERMANS EA VANBEERENDONK HM DECOO RFM KLEIJER WJ VANOOST BA
Citation: Ea. Sistermans et al., MUTATION ANALYSIS OF THE ASPARTOACYLASE GENE IN NON-ASHKENAZI JEWISH PATIENTS WITH CANAVAN-DISEASE - IDENTIFICATION OF 6 NEW MUTATIONS, American journal of human genetics, 61(4), 1997, pp. 2030-2030
A (G-TO-A) MUTATION IN THE INITIATION CODON OF THE PROTEOLIPID PROTEIN GENE CAUSING A RELATIVELY MILD FORM OF PELIZAEUS-MERZBACHER DISEASE IN A DUTCH FAMILY
Authors: SISTERMANS EA DEWIJS IJ DECOO RFM SMIT LME MENKO FH VANOOST BA
Citation: Ea. Sistermans et al., A (G-TO-A) MUTATION IN THE INITIATION CODON OF THE PROTEOLIPID PROTEIN GENE CAUSING A RELATIVELY MILD FORM OF PELIZAEUS-MERZBACHER DISEASE IN A DUTCH FAMILY, Human genetics, 97(3), 1996, pp. 337-339
MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES
Authors: DEVRIES BBA WIEGERS AM SMITS APT FRYNS JP CURFS LMG VANOOST BA HALLEY DJJ OOSTRA BA VANDENOUWELAND AMW NIERMEIJER MF
Citation: Bba. Devries et al., MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES, American journal of medical genetics, 64(1), 1996, pp. 20-20
BENIGN MITOCHONDRIAL ENCEPHALOMYOPATHY IN A PATIENT WITH COMPLEX-I DEFICIENCY
Authors: TRIJBELS JMF RUITENBEEK W SENGERS RCA JANSSEN AJM VANOOST BA
Citation: Jmf. Trijbels et al., BENIGN MITOCHONDRIAL ENCEPHALOMYOPATHY IN A PATIENT WITH COMPLEX-I DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 149-152
CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES - CLINICAL CONSEQUENCES OF HETEROZYGOSITY FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION
Authors: VANLIEBURG AF VERDIJK MAJ SCHOUTE F LIGTENBERG MJL VANOOST BA WALDHAUSER F DOBNER M MONNENS LAH KNOERS VVAM
Citation: Af. Vanlieburg et al., CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES - CLINICAL CONSEQUENCES OF HETEROZYGOSITY FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION, Kidney international, 50(1), 1996, pp. 335-335
BENIGN FAMILIAL HEMATURIA DUE TO MUTATION OF THE TYPE-IV COLLAGEN ALPHA-4 GENE
Authors: LEMMINK HH NILLESEN WN MOCHIZUKI T SCHRODER CH BRUNNER HG VANOOST BA MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., BENIGN FAMILIAL HEMATURIA DUE TO MUTATION OF THE TYPE-IV COLLAGEN ALPHA-4 GENE, The Journal of clinical investigation, 98(5), 1996, pp. 1114-1118
GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA
Authors: DEVRIES DD WENT LN BRUYN GW SCHOLTE HR HOFSTRA RMW BOLHUIS PA VANOOST BA
Citation: Dd. Devries et al., GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA, American journal of human genetics, 58(4), 1996, pp. 703-711
ISOLATED CASE OF MENTAL-RETARDATION AND ATAXIA DUE TO A DE-NOVO MITOCHONDRIAL T8993G MUTATION
Authors: DECOO IFM SMEETS HJM GABREELS FJM ARTS N VANOOST BA
Citation: Ifm. Decoo et al., ISOLATED CASE OF MENTAL-RETARDATION AND ATAXIA DUE TO A DE-NOVO MITOCHONDRIAL T8993G MUTATION, American journal of human genetics, 58(3), 1996, pp. 636-638
MOLECULAR-GENETIC ANALYSIS IN MILD HYPERHOMOCYSTEINEMIA - A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A GENETIC RISK FACTOR FOR CARDIOVASCULAR-DISEASE
Authors: KLUIJTMANS LAJ VANDENHEUVEL LPWJ BOERS GHJ FROSST P STEVENS EMB VANOOST BA DENHEIJER M TRIJBELS FJM ROZEN R BLOM HJ
Citation: Laj. Kluijtmans et al., MOLECULAR-GENETIC ANALYSIS IN MILD HYPERHOMOCYSTEINEMIA - A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A GENETIC RISK FACTOR FOR CARDIOVASCULAR-DISEASE, American journal of human genetics, 58(1), 1996, pp. 35-41
2 INTRONIC MUTATIONS IN THE ADRENOLEUKODYSTROPHY GENE
Authors: KEMP S LIGTENBERG MJL VANGEEL BM BARTH PG SARDE CO VANOOST BA BOLHUIS PA
Citation: S. Kemp et al., 2 INTRONIC MUTATIONS IN THE ADRENOLEUKODYSTROPHY GENE, Human mutation, 6(3), 1995, pp. 272-273
CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION
Authors: VANLIEBURG AF VERDIJK MAJ SCHOUTE F LIGTENBERG MJL VANOOST BA WALDHAUSER F DOBNER M MONNENS LAH KNOERS VVAM
Citation: Af. Vanlieburg et al., CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION, Journal of the American Society of Nephrology, 6(3), 1995, pp. 728-728
2 NOVEL MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE INHOMOCYSTINURIC PATIENTS
Authors: KLUIJTMANS LAJ BLOM HJ BOERS GHJ VANOOST BA TRIJBELS FJM VANDENHEUVEL LPWJ
Citation: Laj. Kluijtmans et al., 2 NOVEL MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE INHOMOCYSTINURIC PATIENTS, Human genetics, 96(2), 1995, pp. 249-250
CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION
Authors: VANLIEBURG AF VERDIJK MAJ SCHOUTE F LIGTENBERG MJL VANOOST BA WALDHAUSER F DOBNER M MONNENS LAH KNOERS NVAM
Citation: Af. Vanlieburg et al., CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION, Human genetics, 96(1), 1995, pp. 70-78
CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY
Authors: HAGEMAN ATM GABREELS FJM DEJONG JGN GABREELSFESTEN AAWM VANDENBERG CJMG VANOOST BA WEVERS RA
Citation: Atm. Hageman et al., CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY, Archives of neurology, 52(4), 1995, pp. 408-413
THE GENE FOR HEREDITARY BULLOUS DYSTROPHY, X-LINKED MACULAR TYPE, MAPS TO THE XQ27.3-QTER REGION
Authors: WIJKER M LIGTENBERG MJL SCHOUTE F DEFESCHE JC PALS G BOLHUIS PA ROPERS HH HULSEBOS TJM MENKO FH VANOOST BA LUNGAROTTI MS ARWERT F
Citation: M. Wijker et al., THE GENE FOR HEREDITARY BULLOUS DYSTROPHY, X-LINKED MACULAR TYPE, MAPS TO THE XQ27.3-QTER REGION, American journal of human genetics, 56(5), 1995, pp. 1096-1100
SPECTRUM OF MUTATIONS IN THE GENE ENCODING THE ADRENOLEUKODYSTROPHY PROTEIN
Authors: LIGTENBERG MJL KEMP S SARDE CO VANGEEL BM KLEIJER WJ BARTH PG MANDEL JL VANOOST BA BOLHUIS PA
Citation: Mjl. Ligtenberg et al., SPECTRUM OF MUTATIONS IN THE GENE ENCODING THE ADRENOLEUKODYSTROPHY PROTEIN, American journal of human genetics, 56(1), 1995, pp. 44-50
MUTANT AQUAPORIN-2 PROTEINS - ENCODED BY GENES IN NEPHROGENIC DIABETES-INSIPIDUS, ARE IMPAIRED IN THE CELLULAR ROUTING
Authors: DEEN PMT VANLIEBURG AF VANOOST BA GINSEL L VANOS CH
Citation: Pmt. Deen et al., MUTANT AQUAPORIN-2 PROTEINS - ENCODED BY GENES IN NEPHROGENIC DIABETES-INSIPIDUS, ARE IMPAIRED IN THE CELLULAR ROUTING, Journal of the American Society of Nephrology, 5(3), 1994, pp. 269-269
Risultati: 1-25 | 26-50 | 51-55