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Results: 1-25 | 26-34
Results: 1-25/34
NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA
Authors: MANNING BM QUANE KA LYNCH PJ URWYLER A TEGAZZIN V KRIVOSICHORBER R CENSIER K COMI G ADNET P WOLZ W LUNARDI J MULLER CR MCCARTHY TV
Citation: Bm. Manning et al., NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA, Human mutation, 11(1), 1998, pp. 45-50
NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA
Authors: MANNING BM QUANE KA LYNCH PJ URWYLER A TEGAZZIN V KRIVOSICHORBER R CENSIER K COMI G ADNET P WOLZ W LUNARDI J MULLER CR MCCARTHY TV
Citation: Bm. Manning et al., NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA, Human mutation, 11(1), 1998, pp. 45-50
CONFIDENCE-INTERVALS FOR PARAMETERS RELEVANT FOR THE SEARCH STRATEGY FOR UNRELATED DONORS
Authors: MULLER CR GOLDMANN SF
Citation: Cr. Muller et Sf. Goldmann, CONFIDENCE-INTERVALS FOR PARAMETERS RELEVANT FOR THE SEARCH STRATEGY FOR UNRELATED DONORS, Bone marrow transplantation, 21, 1998, pp. 106-106
CENTRAL-CORE-LIKE STRUCTURES (CCLS) IN A FAMILY DISPOSED TO MALIGNANTHYPERTHERMIA (MH) WITHOUT LINKAGE TO CHROMOSOME-19 (D-19-S-421, D-19-S-422)
Authors: FRICKER RM BITTNER RE MULLER CR KRESS HG
Citation: Rm. Fricker et al., CENTRAL-CORE-LIKE STRUCTURES (CCLS) IN A FAMILY DISPOSED TO MALIGNANTHYPERTHERMIA (MH) WITHOUT LINKAGE TO CHROMOSOME-19 (D-19-S-421, D-19-S-422), Anesthesiology, 89(3A), 1998, pp. 1219-1219
IDENTIFICATION OF NOVEL MUTATIONS IN THE RYANODINE-RECEPTOR GENE (RYR1) IN MALIGNANT HYPERTHERMIA - GENOTYPE-PHENOTYPE CORRELATION
Authors: MANNING BM QUANE KA ORDING H URWYLER A TEGAZZIN V LEHANE M OHALLORAN J HARTUNG E GIBLIN LM LYNCH PJ VAUGHAN P CENSIER K BENDIXEN D COMI G HEYTENS L MONSIEURS K FAGERLUND T WOLZ W HEFFRON JJA MULLER CR MCCARTHY TV
Citation: Bm. Manning et al., IDENTIFICATION OF NOVEL MUTATIONS IN THE RYANODINE-RECEPTOR GENE (RYR1) IN MALIGNANT HYPERTHERMIA - GENOTYPE-PHENOTYPE CORRELATION, American journal of human genetics, 62(3), 1998, pp. 599-609
CLONING OF THE HOMOGENTISATE 1,2-DIOXYGENASE GENE, THE KEY ENZYME OF ALKAPTONURIA IN MOUSE
Authors: SCHMIDT SR GEHRIG A KOEHLER MR SCHMID M MULLER CR KRESS W
Citation: Sr. Schmidt et al., CLONING OF THE HOMOGENTISATE 1,2-DIOXYGENASE GENE, THE KEY ENZYME OF ALKAPTONURIA IN MOUSE, Mammalian genome, 8(3), 1997, pp. 168-171
RARE COMBINATION OF BECKER-MUSCULAR-DYSTROPHY AND KLINEFELTERS-SYNDROME IN ONE PATIENT
Authors: ZEITOUN O KETELSEN UP WOLFF G MULLER CR KORINTHENBERG R
Citation: O. Zeitoun et al., RARE COMBINATION OF BECKER-MUSCULAR-DYSTROPHY AND KLINEFELTERS-SYNDROME IN ONE PATIENT, Brain & development, 19(5), 1997, pp. 359-361
MOLECULAR DEFECTS IN ALKAPTONURIA
Authors: GEHRIG A SCHMIDT SR MULLER CR SRSEN S SRSNOVA K KRESS W
Citation: A. Gehrig et al., MOLECULAR DEFECTS IN ALKAPTONURIA, Cytogenetics and cell genetics, 76(1-2), 1997, pp. 14-16
GERMAN CONSENSUS ON IMMUNOGENETIC DONOR SEARCH FOR TRANSPLANTATION OFALLOGENEIC BONE-MARROW AND PERIPHERAL-BLOOD STEM-CELLS
Authors: OTTINGER HD ALBERT E ARNOLD R BEELEN DW BLASCZYK R BUNJES D BURDACH S EBELL W EHNINGER G EINSELE H ENCZMANN J FAUSER A FRIEDRICH W FINKE J GOBEL U GOLDMANN SF GRAMATZKI M HELBIG W KANZ L KLINGSBIEL T KOLB HJ KUHNL P LOLIGER C MULLER CR MULLER CA NIETHAMMER D SCHAEFER UW SAYER H SCHMITZ N SCHULZERATH R WASSMUTH R WERNET P WESTPHAL E ZANDER R ZINTL F GROSSEWILDE H
Citation: Hd. Ottinger et al., GERMAN CONSENSUS ON IMMUNOGENETIC DONOR SEARCH FOR TRANSPLANTATION OFALLOGENEIC BONE-MARROW AND PERIPHERAL-BLOOD STEM-CELLS, Bone marrow transplantation, 20(2), 1997, pp. 101-105
MISSENSE MUTATIONS AT ALA-10 IN THE FACTOR-IX PROPEPTIDE - AN INSIGNIFICANT VARIANT IN NORMAL LIFE BUT A DECISIVE CAUSE OF BLEEDING DURING ORAL ANTICOAGULANT-THERAPY
Authors: OLDENBURG J QUENZEL EM HARBRECHT U FREGIN A KRESS W MULLER CR HERTFELDER HJ SCHWAAB R BRACKMANN HH HANFLAND P
Citation: J. Oldenburg et al., MISSENSE MUTATIONS AT ALA-10 IN THE FACTOR-IX PROPEPTIDE - AN INSIGNIFICANT VARIANT IN NORMAL LIFE BUT A DECISIVE CAUSE OF BLEEDING DURING ORAL ANTICOAGULANT-THERAPY, British Journal of Haematology, 98(1), 1997, pp. 240-244
CLINICAL AND GENETIC-EVIDENCE FOR AUTOSOMAL-DOMINANT NORTH-CAROLINA MACULAR DYSTROPHY IN A GERMAN FAMILY
Authors: PAULEIKHOFF D SAUER CG MULLER CR RADERMACHER M MERZ A WEBER BHF
Citation: D. Pauleikhoff et al., CLINICAL AND GENETIC-EVIDENCE FOR AUTOSOMAL-DOMINANT NORTH-CAROLINA MACULAR DYSTROPHY IN A GERMAN FAMILY, American journal of ophthalmology, 124(3), 1997, pp. 412-415
MAPPING OF THE GENE FOR CRANIOMETAPHYSEAL DYSPLASIA (CMD) IN A LARGE GERMAN KINDRED
Authors: NUMBERG P TINSCHERT S MRUG M HAMPE J BRAUN HS FUHRMANN E MULLER CR REIS A
Citation: P. Numberg et al., MAPPING OF THE GENE FOR CRANIOMETAPHYSEAL DYSPLASIA (CMD) IN A LARGE GERMAN KINDRED, American journal of human genetics, 61(4), 1997, pp. 1680-1680
THE GENE FOR AUTOSOMAL-DOMINANT CRANIOMETAPHYSEAL DYSPLASIA MAPS TO CHROMOSOME 5P AND IS DISTINCT FROM THE GROWTH HORMONE-RECEPTOR GENE
Authors: NURNBERG P TINSCHERT S MRUG M HAMPE J MULLER CR FUHRMANN E BRAUN HS REIS A
Citation: P. Nurnberg et al., THE GENE FOR AUTOSOMAL-DOMINANT CRANIOMETAPHYSEAL DYSPLASIA MAPS TO CHROMOSOME 5P AND IS DISTINCT FROM THE GROWTH HORMONE-RECEPTOR GENE, American journal of human genetics, 61(4), 1997, pp. 918-923
MAPPING UNDETECTED MUTATIONS WITHIN A GENE - EVIDENCE FOR 2 PREFERENTIAL REGIONS IN THE DMD GENE
Authors: MULLERMYHSOK B HEILAND HJ MULLER CR MENG G GRIMM T OTT J
Citation: B. Mullermyhsok et al., MAPPING UNDETECTED MUTATIONS WITHIN A GENE - EVIDENCE FOR 2 PREFERENTIAL REGIONS IN THE DMD GENE, Human heredity, 47(2), 1997, pp. 61-65
A NOVEL FUNCTIONAL POLYMORPHISM WITHIN THE PROMOTER OF THE SEROTONIN TRANSPORTER GENE - POSSIBLE ROLE IN SUSCEPTIBILITY TO AFFECTIVE-DISORDERS
Authors: COLLIER DA STOBER G LI T HEILS A CATALANO M DIBELLA D ARRANZ MJ MURRAY RM VALLADA HP BENGEL D MULLER CR ROBERTS GW SMERALDI E KIROV G SHAM P LESCH KP
Citation: Da. Collier et al., A NOVEL FUNCTIONAL POLYMORPHISM WITHIN THE PROMOTER OF THE SEROTONIN TRANSPORTER GENE - POSSIBLE ROLE IN SUSCEPTIBILITY TO AFFECTIVE-DISORDERS, Molecular psychiatry, 1(6), 1996, pp. 453-460
A COMPLEX SATELLITE DNA POLYMORPHISM FLANKING THE HUMAN RYANODINE RECEPTOR GENE (RYR1)
Authors: WOLZ W WENDELMUTH U ROUQUIER S GIORGI D MULLER CR
Citation: W. Wolz et al., A COMPLEX SATELLITE DNA POLYMORPHISM FLANKING THE HUMAN RYANODINE RECEPTOR GENE (RYR1), Cytogenetics and cell genetics, 72(2-3), 1996, pp. 215-216
ASSOCIATION OF ANXIETY-RELATED TRAITS WITH A POLYMORPHISM IN THE SEROTONIN TRANSPORTER GENE REGULATORY REGION
Authors: LESCH KP BENGEL D HEILS A SABOL SZ GREENBERG BD PETRI S BENJAMIN J MULLER CR HAMER DH MURPHY DL
Citation: Kp. Lesch et al., ASSOCIATION OF ANXIETY-RELATED TRAITS WITH A POLYMORPHISM IN THE SEROTONIN TRANSPORTER GENE REGULATORY REGION, Science, 274(5292), 1996, pp. 1527-1531
IDENTIFICATION OF NOVEL MUTATIONS IN 3 FAMILIES WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY
Authors: KLAUCK SM WILGENBUS P YATES JRW MULLER CR POUSTKA A
Citation: Sm. Klauck et al., IDENTIFICATION OF NOVEL MUTATIONS IN 3 FAMILIES WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY, Human molecular genetics, 4(10), 1995, pp. 1853-1857
SARCOLEMMAL EXPRESSION OF DYSTROPHIN C-TERMINUS BUT REDUCED EXPRESSION OF 6Q-DYSTROPHIN-RELATED PROTEIN IN 2 DMD PATIENTS WITH LARGE DELETIONS OF THE DYSTROPHIN GENE
Authors: BITTNER RE SHORNY S FERLINGS R SPERL W KRESS W MULLER CR CREMER M LEGER JJ VOIT T
Citation: Re. Bittner et al., SARCOLEMMAL EXPRESSION OF DYSTROPHIN C-TERMINUS BUT REDUCED EXPRESSION OF 6Q-DYSTROPHIN-RELATED PROTEIN IN 2 DMD PATIENTS WITH LARGE DELETIONS OF THE DYSTROPHIN GENE, Neuromuscular disorders, 5(2), 1995, pp. 81-92
ESTIMATE OF SEVERE AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY(LGMD2C, LGMD2D) AMONG SPORADIC MUSCULAR-DYSTROPHY MALES - A STUDY OF415 FAMILIES
Authors: STEC I KRESS W MENG G MULLER B MULLER CR GRIMM T
Citation: I. Stec et al., ESTIMATE OF SEVERE AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY(LGMD2C, LGMD2D) AMONG SPORADIC MUSCULAR-DYSTROPHY MALES - A STUDY OF415 FAMILIES, Journal of Medical Genetics, 32(12), 1995, pp. 930-933
MURINE LIVER HOMOGENTISATE 1,2-DIOXYGENASE - PURIFICATION TO HOMOGENEITY AND NOVEL BIOCHEMICAL-PROPERTIES
Authors: SCHMIDT SR MULLER CR KRESS W
Citation: Sr. Schmidt et al., MURINE LIVER HOMOGENTISATE 1,2-DIOXYGENASE - PURIFICATION TO HOMOGENEITY AND NOVEL BIOCHEMICAL-PROPERTIES, European journal of biochemistry, 228(2), 1995, pp. 425-430
MAPPING OF THE MALIGNANT HYPERTHERMIA SUSCEPTIBILITY (MHS) REGION ON CHROMOSOME 3Q13.1
Authors: SUDBRAK R MULLER CR SCHNITTGER S WEISSENBACH J DEUFEL T
Citation: R. Sudbrak et al., MAPPING OF THE MALIGNANT HYPERTHERMIA SUSCEPTIBILITY (MHS) REGION ON CHROMOSOME 3Q13.1, American journal of human genetics, 57(4), 1995, pp. 1173-1173
DISCORDANCE, IN A MALIGNANT HYPERTHERMIA PEDIGREE, BETWEEN IN-VITRO CONTRACTURE-TEST PHENOTYPES AND HAPLOTYPES FOR THE MHS1 REGION ON CHROMOSOME 19Q12-13.2, COMPRISING THE C1840T TRANSITION IN THE RYR1 GENE
Authors: DEUFEL T SUDBRAK R FEIST Y RUBSAM B DUCHESNE I SCHAFER KL ROEWER N GRIMM T LEHMANNHORN F HARTUNG EJ MULLER CR
Citation: T. Deufel et al., DISCORDANCE, IN A MALIGNANT HYPERTHERMIA PEDIGREE, BETWEEN IN-VITRO CONTRACTURE-TEST PHENOTYPES AND HAPLOTYPES FOR THE MHS1 REGION ON CHROMOSOME 19Q12-13.2, COMPRISING THE C1840T TRANSITION IN THE RYR1 GENE, American journal of human genetics, 56(6), 1995, pp. 1334-1342
DETECTION OF A NOVEL RYR1 MUTATION IN 4 MALIGNANT HYPERTHERMIA PEDIGREES
Authors: KEATING KE QUANE KA MANNING BM LEHANE M HARTUNG E CENSIER K URWYLER A KLAUSNITZER M MULLER CR HEFFRON JJA MCCARTHY TV
Citation: Ke. Keating et al., DETECTION OF A NOVEL RYR1 MUTATION IN 4 MALIGNANT HYPERTHERMIA PEDIGREES, Human molecular genetics, 3(10), 1994, pp. 1855-1858
THE HUMAN GENE FOR ALKAPTONURIA (AKU) MAPS TO CHROMOSOME 3Q
Authors: JANOCHA S WOLZ W SRSEN S SRSNOVA K MONTAGUTELLI X GUENET JL GRIMM T KRESS W MULLER CR
Citation: S. Janocha et al., THE HUMAN GENE FOR ALKAPTONURIA (AKU) MAPS TO CHROMOSOME 3Q, Genomics, 19(1), 1994, pp. 5-8
Risultati: 1-25 | 26-34