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Results: 1-25 | 26-47
Results: 1-25/47
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE
Authors: ZERRES K RUDNIKSCHONEBORN S STEINKAMM C BECKER J MUCHER G
Citation: K. Zerres et al., AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE, Journal of molecular medicine, 76(5), 1998, pp. 303-309
KIDNEY GROWTH AND RENAL-FUNCTION IN UNILATERAL MULTICYSTIC DYSPLASTICKIDNEY-DISEASE
Authors: JOHN U RUDNIKSCHONEBORN S ZERRES K MISSELWITZ J
Citation: U. John et al., KIDNEY GROWTH AND RENAL-FUNCTION IN UNILATERAL MULTICYSTIC DYSPLASTICKIDNEY-DISEASE, Pediatric nephrology, 12(7), 1998, pp. 567-571
FINE MAPPING OF THE AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE LOCUS (PKHD1) AND THE GENES MUT, RDS, CSNK2-BETA, AND GSTA1 AT 6P21.1-P12
Authors: MUCHER G BECKER J KNAPP M BUTTNER R MOSER M RUDNIKSCHONEBORN S SOMLO S GERMINO G ONUCHIC L AVNER E GUAYWOODFORD L ZERRES K
Citation: G. Mucher et al., FINE MAPPING OF THE AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE LOCUS (PKHD1) AND THE GENES MUT, RDS, CSNK2-BETA, AND GSTA1 AT 6P21.1-P12, Genomics, 48(1), 1998, pp. 40-45
AXONAL NEUROPATHY AND PREDOMINANCE OF TYPE-II MYOFIBERS IN INFANTILE SPINAL MUSCULAR-ATROPHY
Authors: OMRAN H KETELSEN UP HEINEN F SAUER M RUDNIKSCHONEBORN S WIRTH B ZERRES K KRATZER W KORINTHENBERG R
Citation: H. Omran et al., AXONAL NEUROPATHY AND PREDOMINANCE OF TYPE-II MYOFIBERS IN INFANTILE SPINAL MUSCULAR-ATROPHY, Journal of child neurology, 13(7), 1998, pp. 327-331
CLINICAL-FEATURES OF UNILATERAL MULTICYSTIC RENAL DYSPLASIA IN CHILDREN
Authors: RUDNIKSCHONEBORN S JOHN U DEGET F EHRICH JHH MISSELWITZ J ZERRES K
Citation: S. Rudnikschoneborn et al., CLINICAL-FEATURES OF UNILATERAL MULTICYSTIC RENAL DYSPLASIA IN CHILDREN, European journal of pediatrics, 157(8), 1998, pp. 666-672
INCREASED RISK FOR ABNORMAL PLACENTATION IN WOMEN AFFECTED BY MYOTONIC-DYSTROPHY
Authors: RUDNIKSCHONEBORN S ROHRIG D ZERRES K
Citation: S. Rudnikschoneborn et al., INCREASED RISK FOR ABNORMAL PLACENTATION IN WOMEN AFFECTED BY MYOTONIC-DYSTROPHY, Journal of perinatal medicine, 26(3), 1998, pp. 192-195
COGNITIVE FUNCTION AND BEHAVIORAL-PROBLEMS IN CHILDREN AND ADOLESCENTS WITH SPINAL MUSCULAR-ATROPHY
Authors: VONGONTARD A ZERRES K LAUFERSWEILERPLASS C WENDLAND C RUDNIKSCHONEBORN S LEHMKUHL G
Citation: A. Vongontard et al., COGNITIVE FUNCTION AND BEHAVIORAL-PROBLEMS IN CHILDREN AND ADOLESCENTS WITH SPINAL MUSCULAR-ATROPHY, American journal of medical genetics, 81(6), 1998, pp. 550-550
PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY
Authors: ZERRES K MUCHER G BECKER J STEINKAMM C RUDNIKSCHONEBORN S HEIKKILA P RAPOLA J SALONEN R GERMINO GG ONUCHIC L SOMLO S AVNER ED HARMAN LA STOCKWIN JM GUAYWOODFORD LM
Citation: K. Zerres et al., PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY, American journal of medical genetics, 76(2), 1998, pp. 137-144
ANALYSIS OF CREATINE-KINASE ACTIVITY IN 504 PATIENTS WITH PROXIMAL SPINAL MUSCULAR-ATROPHY TYPES I-III FROM THE POINT-OF-VIEW OF PROGRESSION AND SEVERITY
Authors: RUDNIKSCHONEBORN S LUTZENRATH S BORKOWSKA J KARWANSKA A HAUSMANOWAPETRUSEWICZ I ZERRES K
Citation: S. Rudnikschoneborn et al., ANALYSIS OF CREATINE-KINASE ACTIVITY IN 504 PATIENTS WITH PROXIMAL SPINAL MUSCULAR-ATROPHY TYPES I-III FROM THE POINT-OF-VIEW OF PROGRESSION AND SEVERITY, European neurology, 39(3), 1998, pp. 154-162
MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA)
Authors: HAHNEN E SCHONLING J RUDNIKSCHONEBORN S RASCHKE H ZERRES K WIRTH B
Citation: E. Hahnen et al., MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA), Human molecular genetics, 6(5), 1997, pp. 821-825
SPINAL MUSCULAR-ATROPHY - CLINICAL AND GENETIC CORRELATIONS
Authors: ZERRES K WIRTH B RUDNIKSCHONEBORN S
Citation: K. Zerres et al., SPINAL MUSCULAR-ATROPHY - CLINICAL AND GENETIC CORRELATIONS, Neuromuscular disorders, 7(3), 1997, pp. 202-207
CONGENITAL AXONAL NEUROPATHY CAUSED BY DELETIONS IN THE SPINAL MUSCULAR-ATROPHY REGION
Authors: KORINTHENBERG R SAUER M KETELSEN UP HANEMANN CO STOLL G GRAF M BABORIE A VOLK B WIRTH B RUDNIKSCHONEBORN S ZERRES K
Citation: R. Korinthenberg et al., CONGENITAL AXONAL NEUROPATHY CAUSED BY DELETIONS IN THE SPINAL MUSCULAR-ATROPHY REGION, Annals of neurology, 42(3), 1997, pp. 364-368
DIFFERENT ENTITIES OF PROXIMAL SPINAL MUSCULAR-ATROPHY WITHIN ONE FAMILY
Authors: WIRTH B TESSAROLO D HAHNEN E RUDNIKSCHONEBORN S RASCHKE H LIGUORI M GIACANELLI M ZERRES K
Citation: B. Wirth et al., DIFFERENT ENTITIES OF PROXIMAL SPINAL MUSCULAR-ATROPHY WITHIN ONE FAMILY, Human genetics, 100(5-6), 1997, pp. 676-680
A COLLABORATIVE STUDY ON THE NATURAL-HISTORY OF CHILDHOOD AND JUVENILE-ONSET PROXIMAL SPINAL MUSCULAR-ATROPHY (TYPE-II AND TYPE-III SMA) - 569 PATIENTS
Authors: ZERRES K RUDNIKSCHONEBORN S FORREST E LUSAKOWSKA A BORKOWSKA J HAUSMANOWAPETRUSEWICZ I
Citation: K. Zerres et al., A COLLABORATIVE STUDY ON THE NATURAL-HISTORY OF CHILDHOOD AND JUVENILE-ONSET PROXIMAL SPINAL MUSCULAR-ATROPHY (TYPE-II AND TYPE-III SMA) - 569 PATIENTS, Journal of the neurological sciences, 146(1), 1997, pp. 67-72
PROXIMAL AND DISTAL SPINAL MUSCULAR-ATROPHY IN ONE FAMILY - MOLECULAR-GENETIC STUDIES PROVIDE FURTHER EVIDENCE FOR THE NON-ALLELIC ORIGIN OF BOTH DISEASES
Authors: SPRANGER S RUDNIKSCHONEBORN S SPRANGER M SCHACHTELE M ZERRES K WIRTH B
Citation: S. Spranger et al., PROXIMAL AND DISTAL SPINAL MUSCULAR-ATROPHY IN ONE FAMILY - MOLECULAR-GENETIC STUDIES PROVIDE FURTHER EVIDENCE FOR THE NON-ALLELIC ORIGIN OF BOTH DISEASES, Journal of Medical Genetics, 34(4), 1997, pp. 340-342
PARTIAL TRISOMY-6P FROM A DE-NOVO TRANSLOCATION(6-18) WITH VARIABLE MOSAICISM IN DIFFERENT TISSUES
Authors: RUDNIKSCHONEBORN S SCHUBERT R MAJEWSKI F HAVERKAMP F SCHWANITZ G
Citation: S. Rudnikschoneborn et al., PARTIAL TRISOMY-6P FROM A DE-NOVO TRANSLOCATION(6-18) WITH VARIABLE MOSAICISM IN DIFFERENT TISSUES, Clinical genetics, 52(2), 1997, pp. 126-129
OBSTETRIC ASPECTS IN WOMEN WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, LIMB-GIRDLE MUSCULAR-DYSTROPHY, AND CONGENITAL MYOPATHIES
Authors: RUDNIKSCHONEBORN S GLAUNER B ROHRIG D ZERRES K
Citation: S. Rudnikschoneborn et al., OBSTETRIC ASPECTS IN WOMEN WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, LIMB-GIRDLE MUSCULAR-DYSTROPHY, AND CONGENITAL MYOPATHIES, Archives of neurology, 54(7), 1997, pp. 888-894
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(5), 1997, pp. 1102-1111
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(4), 1997, pp. 2057-2057
CURRENT STATUS OF DNA DIAGNOSIS FOR HEREDITARY NEPHROPATHIES
Authors: ZERRES K RUDNIKSCHONEBORN S
Citation: K. Zerres et S. Rudnikschoneborn, CURRENT STATUS OF DNA DIAGNOSIS FOR HEREDITARY NEPHROPATHIES, Kidney & blood pressure research, 19(3-4), 1996, pp. 209-214
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE
Authors: ZERRES K RUDNIKSCHONEBORN S STEINKAMM C MUCHER G
Citation: K. Zerres et al., AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE, Nephrology, dialysis, transplantation, 11, 1996, pp. 29-33
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN 115 CHILDREN - CLINICAL PRESENTATION, COURSE AND INFLUENCE OF GENDER
Authors: ZERRES K RUDNIKSCHONEBORN S DEGET F HOLTKAMP U BRODEHL J GEISERT J SCHARER K RUDER H RASCHER W DIPPEL J HUFSCHMIDT C MULLERWIEFEL DE KONRAD M KAARIAINEN H MISSELWITZ J VOLPEL S MICHALK D EIFE R KUWERTZBROCKING E VONMUHLENDAHL KE
Citation: K. Zerres et al., AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN 115 CHILDREN - CLINICAL PRESENTATION, COURSE AND INFLUENCE OF GENDER, Acta paediatrica, 85(4), 1996, pp. 437-445
CLINICAL SPECTRUM AND DIAGNOSTIC-CRITERIA OF INFANTILE SPINAL MUSCULAR-ATROPHY - FURTHER DELINEATION ON THE BASIS OF SMN GENE DELETION FINDINGS
Authors: RUDNIKSCHONEBORN S FORKERT R HAHNEN E WIRTH B ZERRES K
Citation: S. Rudnikschoneborn et al., CLINICAL SPECTRUM AND DIAGNOSTIC-CRITERIA OF INFANTILE SPINAL MUSCULAR-ATROPHY - FURTHER DELINEATION ON THE BASIS OF SMN GENE DELETION FINDINGS, Neuropediatrics, 27(1), 1996, pp. 8-15
FURTHER ARGUMENTS FOR NON-FORTUITOUS ASSOCIATION OF POTTER SEQUENCE WITH XYY MALES
Authors: RUDNIKSCHONEBORN S SCHULER HM SCHWANITZ G HANSMANN M ZERRES K
Citation: S. Rudnikschoneborn et al., FURTHER ARGUMENTS FOR NON-FORTUITOUS ASSOCIATION OF POTTER SEQUENCE WITH XYY MALES, Annales de genetique, 39(1), 1996, pp. 43-46
HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE
Authors: HAHNEN E SCHONLING J RUDNIKSCHONEBORN S ZERRES K WIRTH B
Citation: E. Hahnen et al., HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE, American journal of human genetics, 59(5), 1996, pp. 1057-1065
Risultati: 1-25 | 26-47