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Results: 1-25 | 26-42
Results: 1-25/42
MUTATIONS IN SAETHRE-CHOTZEN-SYNDROME
Authors: KRESS W MELCHER R HALLIGERKELLER B COLLMANN H
Citation: W. Kress et al., MUTATIONS IN SAETHRE-CHOTZEN-SYNDROME, European journal of human genetics, 6, 1998, pp. 1138-1138
ALLELIC HETEROGENEITY OF ALKAPTONURIA
Authors: MUELLER CR FREGIN A SCHMIDT SR SRSEN S SRSNOVA K MONTAGUTELLI X KRESS W
Citation: Cr. Mueller et al., ALLELIC HETEROGENEITY OF ALKAPTONURIA, European journal of human genetics, 6, 1998, pp. 3037-3037
TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-10 - A NEW CASE WITH BREAKPOINT IN Q25.3
Authors: PETERSEN B STRASSBURG HM FEICHTINGER W KRESS W SCHMID M
Citation: B. Petersen et al., TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-10 - A NEW CASE WITH BREAKPOINT IN Q25.3, American journal of medical genetics, 77(1), 1998, pp. 60-62
THE X-CHROMOSOMAL RECESSIVE SPINOBULBAR MUSCULAR-ATROPHY (TYPE KENNEDY) - DESCRIPTION OF A FAMILY, CLINICAL-FEATURES, MOLECULAR-GENETICS, DIFFERENTIAL-DIAGNOSIS AND THERAPY
Authors: KUHLENBAUMER G BOCCHICCHIO M KRESS W YOUNG P OBERWITTLER C STOGBAUER F
Citation: G. Kuhlenbaumer et al., THE X-CHROMOSOMAL RECESSIVE SPINOBULBAR MUSCULAR-ATROPHY (TYPE KENNEDY) - DESCRIPTION OF A FAMILY, CLINICAL-FEATURES, MOLECULAR-GENETICS, DIFFERENTIAL-DIAGNOSIS AND THERAPY, Nervenarzt, 69(8), 1998, pp. 660-665
NO EVIDENCE FOR HETEROGENEITY IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: KRESS W HALLIGERKELLER B GRIMM T PORSCHKE H ENGELHARDT A GOEBEL HH MULLERMYSOK B
Citation: W. Kress et al., NO EVIDENCE FOR HETEROGENEITY IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(7), 1998, pp. 613-614
RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME
Authors: MERIENNE K JACQUOT S TRIVIER E PANNETIER S ROSSI A SCOTT C SCHINZEL A CASTELLAN C KRESS W HANAUER A
Citation: K. Merienne et al., RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 890-894
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
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN A NORTHERN GERMAN FAMILY LINKEDTO CHROMOSOME 14Q, AND PRESENTING CARNITINE DEFICIENCY
Authors: PORSCHKE H KRESS W REICHMANN H GOEBEL HH GRIMM T
Citation: H. Porschke et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN A NORTHERN GERMAN FAMILY LINKEDTO CHROMOSOME 14Q, AND PRESENTING CARNITINE DEFICIENCY, Neuromuscular disorders, 7, 1997, pp. 57-62
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
GENOMIC SEQUENCE AND ORGANIZATION OF THE HUMAN GENE FOR CYTOCHROME-C-OXIDASE SUBUNIT (COX7A1) VIIA-M
Authors: WOLZ W KRESS W MUELLER CR
Citation: W. Wolz et al., GENOMIC SEQUENCE AND ORGANIZATION OF THE HUMAN GENE FOR CYTOCHROME-C-OXIDASE SUBUNIT (COX7A1) VIIA-M, Genomics, 45(2), 1997, pp. 438-442
MISSENSE MUTATIONS AT ALA-10 IN THE FACTOR IX-PROPEPTIDE - A NOVEL MECHANISM FOR SEVERE BLEEDING DURING ORAL ANTICOAGULANT-THERAPY
Authors: OLDENBURG J QUENZEL M HARBRECHT U FREGIN A KRESS W GRIMM T HERTFELDER HJ SCHWAAB R BRACKMANN HH HANFLAND P
Citation: J. Oldenburg et al., MISSENSE MUTATIONS AT ALA-10 IN THE FACTOR IX-PROPEPTIDE - A NOVEL MECHANISM FOR SEVERE BLEEDING DURING ORAL ANTICOAGULANT-THERAPY, Thrombosis and haemostasis, 1997, pp. 720-720
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
DIZYGOTIC TWIN PREGNANCY AFTER INTRACYTOPLASMIC SPERM INJECTION OF 1 DAY-OLD UNFERTILIZED OOCYTES
Authors: BUSSEN S MULFINGER L SUTTERLIN M SCHLEYER M KRESS W STECK T
Citation: S. Bussen et al., DIZYGOTIC TWIN PREGNANCY AFTER INTRACYTOPLASMIC SPERM INJECTION OF 1 DAY-OLD UNFERTILIZED OOCYTES, Human reproduction, 12(11), 1997, pp. 2560-2562
EARLY OXIDATION STAGES OF MG(0001) - A DENSITY-FUNCTIONAL STUDY
Authors: BUNGARO C NOGUERA C BALLONE P KRESS W
Citation: C. Bungaro et al., EARLY OXIDATION STAGES OF MG(0001) - A DENSITY-FUNCTIONAL STUDY, Physical review letters, 79(22), 1997, pp. 4433-4436
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
CLONING OF HGO, THE KEY ENZYME OF ALKAPTONURIA AND DEFINING THE MOLECULAR DEFECTS IN MOUSE AND MAN
Authors: SCHMIDT SR GEHRIG A WERNER E SRSEN S SRSNOVA K MUELLER CR KRESS W
Citation: Sr. Schmidt et al., CLONING OF HGO, THE KEY ENZYME OF ALKAPTONURIA AND DEFINING THE MOLECULAR DEFECTS IN MOUSE AND MAN, American journal of human genetics, 61(4), 1997, pp. 1518-1518
SOMATIC STABILITY OF THE EXPANDED CAG TRINUCLEOTIDE REPEAT IN X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY
Authors: SPIEGEL R LASPADA AR KRESS W FISCHBECK KH SCHMID W
Citation: R. Spiegel et al., SOMATIC STABILITY OF THE EXPANDED CAG TRINUCLEOTIDE REPEAT IN X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY, Human mutation, 8(1), 1996, pp. 32-37
DELETIONS IN XQ28 IN 2 BOYS WITH MYOTUBULAR MYOPATHY AND ABNORMAL GENITAL DEVELOPMENT DEFINE A NEW CONTIGUOUS GENE SYNDROME IN A 430 KB REGION
Authors: HU LJ LAPORTE J KRESS W KIOSCHIS P SIEBENHAAR R POUSTKA A FARDEAU M METZENBERG A JANSSEN EA THOMAS N MANDEL JL DAHL N
Citation: Lj. Hu et al., DELETIONS IN XQ28 IN 2 BOYS WITH MYOTUBULAR MYOPATHY AND ABNORMAL GENITAL DEVELOPMENT DEFINE A NEW CONTIGUOUS GENE SYNDROME IN A 430 KB REGION, Human molecular genetics, 5(1), 1996, pp. 139-143
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
PHONON-DISPERSION CURVES IN DILUTE KTN CRYSTALS
Authors: FOUSSADIER L FONTANA MD KRESS W
Citation: L. Foussadier et al., PHONON-DISPERSION CURVES IN DILUTE KTN CRYSTALS, Journal of physics. Condensed matter, 8(9), 1996, pp. 1135-1150
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
PRENATAL-DIAGNOSIS OF X-LINKED MYOTUBULAR MYOPATHY - STRATEGIES USINGNEW AND TIGHTLY LINKED DNA MARKERS
Authors: HU LJ LAPORTE J KRESS W DAHL N
Citation: Lj. Hu et al., PRENATAL-DIAGNOSIS OF X-LINKED MYOTUBULAR MYOPATHY - STRATEGIES USINGNEW AND TIGHTLY LINKED DNA MARKERS, Prenatal diagnosis, 16(3), 1996, pp. 231-237
SIGNIFICANCE OF MOLECULAR-GENETIC METHODS IN PRENATAL-DIAGNOSIS
Authors: KRESS W WEBER BHF
Citation: W. Kress et Bhf. Weber, SIGNIFICANCE OF MOLECULAR-GENETIC METHODS IN PRENATAL-DIAGNOSIS, Geburtshilfe und Frauenheilkunde, 56(11), 1996, pp. 167-172
IMMUNOSTAINING AND INTERPHASE ARRANGEMENT OF FIELD BEAN KINETOCHORES
Authors: HOUBEN A GUTTENBACH M KRESS W PICH U SCHUBERT I SCHMID M
Citation: A. Houben et al., IMMUNOSTAINING AND INTERPHASE ARRANGEMENT OF FIELD BEAN KINETOCHORES, Chromosome research, 3(1), 1995, pp. 27-31
IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE
Authors: BIONE S SMALL K AKSMANOVIC VMA DURSO M CICCODICOLA A MERLINI L MORANDI L KRESS W YATES JRW WARREN ST TONIOLO D
Citation: S. Bione et al., IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE, Human molecular genetics, 4(10), 1995, pp. 1859-1863
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