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Results: 1-23 |
Results: 23
THE X-CHROMOSOMAL NDUFA1 GENE OF COMPLEX-I IN MITOCHONDRIAL ENCEPHALOMYOPATHIES - TISSUE EXPRESSION AND MUTATION DETECTION
Authors: LOEFFEN J SMEETS R SMEITINK J RUITENBEEK W JANSSEN A MARIMAN E SENGERS R TRIJBELS F VANDENHEUVEL L
Citation: J. Loeffen et al., THE X-CHROMOSOMAL NDUFA1 GENE OF COMPLEX-I IN MITOCHONDRIAL ENCEPHALOMYOPATHIES - TISSUE EXPRESSION AND MUTATION DETECTION, Journal of inherited metabolic disease, 21(3), 1998, pp. 210-215
CLONING OF THE HUMAN MITOCHONDRIAL 51 KDA SUBUNIT (NDUFV1) REVEALS A 100-PERCENT ANTISENSE HOMOLOGY OF ITS 3'UTR WITH THE 5'UTR OF THE GAMMA-INTERFERON INDUCIBLE PROTEIN (IP-30) PRECURSOR - IS THIS A LINK BETWEEN MITOCHONDRIAL MYOPATHY AND INFLAMMATION
Authors: SCHUELKE M LOEFFEN J MARIMAN E SMEITINK J VANDENHEUVEL L
Citation: M. Schuelke et al., CLONING OF THE HUMAN MITOCHONDRIAL 51 KDA SUBUNIT (NDUFV1) REVEALS A 100-PERCENT ANTISENSE HOMOLOGY OF ITS 3'UTR WITH THE 5'UTR OF THE GAMMA-INTERFERON INDUCIBLE PROTEIN (IP-30) PRECURSOR - IS THIS A LINK BETWEEN MITOCHONDRIAL MYOPATHY AND INFLAMMATION, Biochemical and biophysical research communications, 245(2), 1998, pp. 599-606
DEMONSTRATION OF A NEW PATHOGENIC MUTATION IN HUMAN COMPLEX-I DEFICIENCY - A 5-BP DUPLICATION IN THE NUCLEAR GENE ENCODING THE 18-KD (AQDQ)SUBUNIT
Authors: VANDENHEUVEL L RUITENBEEK W SMEETS R GELMANKOHAN Z ELPELEG O LOEFFEN J TRIJBELS F MARIMAN E DEBRUIJN D SMEITINK J
Citation: L. Vandenheuvel et al., DEMONSTRATION OF A NEW PATHOGENIC MUTATION IN HUMAN COMPLEX-I DEFICIENCY - A 5-BP DUPLICATION IN THE NUCLEAR GENE ENCODING THE 18-KD (AQDQ)SUBUNIT, American journal of human genetics, 62(2), 1998, pp. 262-268
FURTHER DELINEATION OF THE CRITICAL REGION FOR NOONAN-SYNDROME ON THELONG ARM OF CHROMOSOME-12
Authors: BRADY AF JAMIESON CR VANDERBURGT I CROSBY A VANREEN M KREMER H MARIMAN E PATTON MA JEFFERY S
Citation: Af. Brady et al., FURTHER DELINEATION OF THE CRITICAL REGION FOR NOONAN-SYNDROME ON THELONG ARM OF CHROMOSOME-12, European journal of human genetics, 5(5), 1997, pp. 336-337
ADVANCES IN CHARCOT-MARIE-TOOTH-DISEASE RESEARCH - CELLULAR FUNCTION OF CMT-RELATED PROTEINS, TRANSGENIC ANIMAL-MODELS, AND PATHOMECHANISMS
Authors: MULLER HW SUTER U VANBROECKHOVEN C HANEMAN O NELIS E TIMMERMAN V SANCHO S BARRIO L BOLHUIS P DERMIETZEL R FRANK M GABREELSFESTEN A GILLEN C HAITES N LEVI G MARIMAN E MARTINI R NAVE K RAUTENSTRAUSS B SCHACHNER M SCHENONE A SCHNEIDER C SCHRODER M WILLECKE K
Citation: Hw. Muller et al., ADVANCES IN CHARCOT-MARIE-TOOTH-DISEASE RESEARCH - CELLULAR FUNCTION OF CMT-RELATED PROTEINS, TRANSGENIC ANIMAL-MODELS, AND PATHOMECHANISMS, Neurobiology of disease, 4(3-4), 1997, pp. 215-220
MICRODELETIONS OF THE Y-CHROMOSOME AND INTRACYTOPLASMIC SPERM INJECTION - FROM GENE TO CLINIC
Authors: KREMER JAM TUERLINGS JHAM MEULEMAN EJH SCHOUTE F MARIMAN E SMEETS DFCM HOEFSLOOT LH BRAAT DDM MERKUS HMWM
Citation: Jam. Kremer et al., MICRODELETIONS OF THE Y-CHROMOSOME AND INTRACYTOPLASMIC SPERM INJECTION - FROM GENE TO CLINIC, Human reproduction, 12(4), 1997, pp. 687-691
METHIONINE SYNTHASE AND NEURAL-TUBE DEFECTS
Authors: MORRISON K EDWARDS YH LYNCH SA BURN J HOL F MARIMAN E
Citation: K. Morrison et al., METHIONINE SYNTHASE AND NEURAL-TUBE DEFECTS, Journal of Medical Genetics, 34(11), 1997, pp. 958-958
GENETIC-MAPPING OF THE HUMAN HOMOLOG (T) OF MOUSE T(BRACHYURY) AND A SEARCH FOR ALLELE ASSOCIATION BETWEEN HUMAN T AND SPINA-BIFIDA
Authors: MORRISON K PAPAPETROU C ATTWOOD J HOL F LYNCH SA SAMPATH A HAMEL B BURN J SOWDEN J STOTT D MARIMAN E EDWARDS YH
Citation: K. Morrison et al., GENETIC-MAPPING OF THE HUMAN HOMOLOG (T) OF MOUSE T(BRACHYURY) AND A SEARCH FOR ALLELE ASSOCIATION BETWEEN HUMAN T AND SPINA-BIFIDA, Human molecular genetics, 5(5), 1996, pp. 669-674
MALE PSEUDOHERMAPHRODITISM DUE TO A HOMOZYGOUS MISSENSE MUTATION OF THE LUTEINIZING-HORMONE RECEPTOR GENE
Authors: KREMER H KRAAIJ R TOLEDO SPA POST M FRIDMAN JB HAYASHIDA CY VANREEN M MILGROM E ROPERS HH MARIMAN E THEMMEN APN BRUNNER HG
Citation: H. Kremer et al., MALE PSEUDOHERMAPHRODITISM DUE TO A HOMOZYGOUS MISSENSE MUTATION OF THE LUTEINIZING-HORMONE RECEPTOR GENE, Nature genetics, 9(2), 1995, pp. 160-164
A GENE FOR AUTOSOMAL-DOMINANT SACRAL AGENESIS MAPS TO THE HOLOPROSENCEPHALY REGION AT 7Q36
Authors: LYNCH SA BOND PM COPP AJ KIRWAN WO NOUR S BALLING R MARIMAN E BURN J STRACHAN T
Citation: Sa. Lynch et al., A GENE FOR AUTOSOMAL-DOMINANT SACRAL AGENESIS MAPS TO THE HOLOPROSENCEPHALY REGION AT 7Q36, Nature genetics, 11(1), 1995, pp. 93-95
INTESTINAL METHANOGENESIS IN PRIMATES - A GENETIC AND EVOLUTIONARY APPROACH
Authors: HACKSTEIN JHP VANALEN TA DENCAMP HO SMITS A MARIMAN E
Citation: Jhp. Hackstein et al., INTESTINAL METHANOGENESIS IN PRIMATES - A GENETIC AND EVOLUTIONARY APPROACH, DTW. Deutsche tierarztliche Wochenschrift, 102(4), 1995, pp. 152-154
MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12
Authors: JAMIESON CR VANDERBURG I WADE AF VANREEN M ELSAWI M HOLS F JEFFERY S PATTON MA MARIMAN E
Citation: Cr. Jamieson et al., MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12, Journal of Medical Genetics, 32(2), 1995, pp. 143-143
MATERNAL-SPECIFIC METHYLATION OF THE HUMAN INSULIN-LIKE GROWTH-FACTOR-2 RECEPTOR GENE IS NOT ACCOMPANIED BY MONOALLELIC EXPRESSION
Authors: KALSCHEUER V RIESEWIJK A SCHEPENS M WELCH T VANDENBERGLOONEN E MARIMAN E ROPERS HH
Citation: V. Kalscheuer et al., MATERNAL-SPECIFIC METHYLATION OF THE HUMAN INSULIN-LIKE GROWTH-FACTOR-2 RECEPTOR GENE IS NOT ACCOMPANIED BY MONOALLELIC EXPRESSION, American journal of human genetics, 57(4), 1995, pp. 144-144
A GENE FOR AUTOSOMAL-DOMINANT SACRAL AGENESIS MAPS TO THE HOLOPROSENCEPHALY REGION AT 7Q36
Authors: BOND PM LYNCH SA COPP AJ KIRWAN WO NOUR S BALLING R MARIMAN E BURN J STRACHAN T
Citation: Pm. Bond et al., A GENE FOR AUTOSOMAL-DOMINANT SACRAL AGENESIS MAPS TO THE HOLOPROSENCEPHALY REGION AT 7Q36, American journal of human genetics, 57(4), 1995, pp. 1075-1075
MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12
Authors: JAMIESON CR VANDERBURGT I BRADY AF VANREEN M ELSAWI MM HOL F JEFFERY S PATTON MA MARIMAN E
Citation: Cr. Jamieson et al., MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12, Nature genetics, 8(4), 1994, pp. 357-360
COSEGREGATION OF MISSENSE MUTATIONS OF THE LUTEINIZING-HORMONE RECEPTOR GENE WITH FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY (VOL 2, PG 1779,1993)
Authors: KREMER H MARIMAN E OTTEN BJ MOLL GW STOELINGA GBA WIT JM JANSEN M DROP SL FAAS B ROPERS SH BRUNNER HG
Citation: H. Kremer et al., COSEGREGATION OF MISSENSE MUTATIONS OF THE LUTEINIZING-HORMONE RECEPTOR GENE WITH FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY (VOL 2, PG 1779,1993), Human molecular genetics, 3(1), 1994, pp. 222-222
NONSPECIFIC X-LINKED MENTAL-RETARDATION - IDENTIFICATION OF SEPARATE SUBTYPES BY LINKAGE STUDIES AND DETAILED CLINICAL INVESTIGATION
Authors: SMITS A MARIMAN E VANDENHELM B KNOERSVANSLOBBE N SMEETS D KREMER H VANDERMAAREL S HAMEL B ROPERS HH
Citation: A. Smits et al., NONSPECIFIC X-LINKED MENTAL-RETARDATION - IDENTIFICATION OF SEPARATE SUBTYPES BY LINKAGE STUDIES AND DETAILED CLINICAL INVESTIGATION, Cytogenetics and cell genetics, 67(4), 1994, pp. 350-350
INVESTIGATING THE INVOLVEMENT OF 18Q23 IN THE ETIOLOGY OF WILLIAMS-SYNDROME
Authors: SCHEPENS M NIEUWINT A VANDEVELDEVISSER S MERK G VANKESSEL AG OVERHAUSER J DONNAI D ARWERT F HAMEL B MENKO F MARIMAN E
Citation: M. Schepens et al., INVESTIGATING THE INVOLVEMENT OF 18Q23 IN THE ETIOLOGY OF WILLIAMS-SYNDROME, Cytogenetics and cell genetics, 65(3), 1994, pp. 162-162
CLINICAL AND MOLECULAR STUDIES IN A LARGE DUTCH FAMILY WITH NOONAN SYNDROME
Authors: VANDERBURGT I BERENDS E LOMMEN E VANBEERSUM S HAMEL B MARIMAN E
Citation: I. Vanderburgt et al., CLINICAL AND MOLECULAR STUDIES IN A LARGE DUTCH FAMILY WITH NOONAN SYNDROME, American journal of medical genetics, 53(2), 1994, pp. 187-191
NO IMPRINTING INVOLVED IN THE EXPRESSION OF DM-KINASE MESSENGER-RNAS IN MOUSE AND HUMAN TISSUES
Authors: JANSEN G BARTOLOMEI M KALSCHEUER V MERKX G WORMSKAMP N MARIMAN E SMEETS D ROPERS HH WIERINGA B
Citation: G. Jansen et al., NO IMPRINTING INVOLVED IN THE EXPRESSION OF DM-KINASE MESSENGER-RNAS IN MOUSE AND HUMAN TISSUES, Human molecular genetics, 2(8), 1993, pp. 1221-1227
COSEGREGATION OF MISSENSE MUTATIONS OF THE LUTEINIZING-HORMONE RECEPTOR GENE WITH FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY
Authors: KREMER H MARIMAN E OTTEN BJ MOLL GW STOELINGA GBA WIT JM JANSEN M DROP SL FAAS B ROPERS HH BRUNNER HG
Citation: H. Kremer et al., COSEGREGATION OF MISSENSE MUTATIONS OF THE LUTEINIZING-HORMONE RECEPTOR GENE WITH FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY, Human molecular genetics, 2(11), 1993, pp. 1779-1783
TISSUE-SPECIFICITY STAGE-SPECIFICITY AND SPECIES-SPECIFICITY OF GENOMIC IMPRINTING IN MAN
Authors: KALSCHEUER V MARIMAN E SCHEPENS M HAMEL B REHDER H ROPERS HH
Citation: V. Kalscheuer et al., TISSUE-SPECIFICITY STAGE-SPECIFICITY AND SPECIES-SPECIFICITY OF GENOMIC IMPRINTING IN MAN, American journal of human genetics, 53(3), 1993, pp. 231-231
GENETIC AND MOLECULAR ANALYSIS OF FAMILIES WITH HEREDITARY NEUROPATHYWITH LIABILITY TO PRESSURE PALSIES
Authors: MARIMAN E GABREELSFESTEN A VANBEERSUM S JONGEN P GABREELS F ROPERS HH
Citation: E. Mariman et al., GENETIC AND MOLECULAR ANALYSIS OF FAMILIES WITH HEREDITARY NEUROPATHYWITH LIABILITY TO PRESSURE PALSIES, American journal of human genetics, 53(3), 1993, pp. 1041-1041
Risultati: 1-23 |