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Results: 1-25 | 26-38
Results: 1-25/38
CONSTANT DENATURANT GEL-ELECTROPHORESIS (CDGE) IN BRCA1 MUTATION SCREENING
Authors: ANDERSEN TI EIKEN HG COUCH F KAADA G SKREDE M JOHNSEN H ALOYSIUS TA TVEIT KM TRANEBJAERG L DORUM A MOLLER P WEBER BL BORRESENDALE AL
Citation: Ti. Andersen et al., CONSTANT DENATURANT GEL-ELECTROPHORESIS (CDGE) IN BRCA1 MUTATION SCREENING, Human mutation, 11(2), 1998, pp. 166-174
NONDISJUNCTION OF CHROMOSOME-18
Authors: BUGGE M COLLINS A PETERSEN MB FISHER J BRANDT C HERTZ JM TRANEBJAERG L DELOZIERBLANCHET C NICOLAIDES P BRONDUMNIELSEN K MORTON N MIKKELSEN M
Citation: M. Bugge et al., NONDISJUNCTION OF CHROMOSOME-18, Human molecular genetics, 7(4), 1998, pp. 661-669
MACHADO-JOSEPH-DISEASE IN 3 SCANDINAVIAN FAMILIES
Authors: LOKKEGAARD T NIELSEN JE HASHOLT L FENGER K WERDELIN L TRANEBJAERG L LAURITZEN M COLDINGJORGENSEN E GRONBECHJENSEN M HENRIKSEN OA SORENSEN SA
Citation: T. Lokkegaard et al., MACHADO-JOSEPH-DISEASE IN 3 SCANDINAVIAN FAMILIES, Journal of the neurological sciences, 156(2), 1998, pp. 152-157
MUTATION ANALYSIS OF THE MEN1 GENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1, FAMILIAL ACROMEGALY AND FAMILIAL ISOLATED HYPERPARATHYROIDISM
Authors: TEH BT KYTOLA S FARNEBO F BERGMAN L WONG FK WEBER G HAYWARD N LARSSON C SKOGSEID B BECKERS A PHELAN C EDWARDS M EPSTEIN M ALFORD F HURLEY D GRIMMOND S SILINS G WALTERS M STEWART C CARDINAL J KHODAEI S PARENTE F TRANEBJAERG L JORDE R MENON J KHIR A TAN TT CHAN SP ZAINI A KHALID BAK SANDELIN K THOMPSON N BRANDI ML WARTH M STOCK J LEISTI J CAMERON D SHEPHERD JJ OBERG K NORDENSKJOLD M SALMELA P
Citation: Bt. Teh et al., MUTATION ANALYSIS OF THE MEN1 GENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1, FAMILIAL ACROMEGALY AND FAMILIAL ISOLATED HYPERPARATHYROIDISM, The Journal of clinical endocrinology and metabolism, 83(8), 1998, pp. 2621-2626
NATURALLY-OCCURRING MUTANTS OF HUMAN STEROID 21-HYDROXYLASE (P450C21)PINPOINT RESIDUES IMPORTANT FOR ENZYME-ACTIVITY AND STABILITY
Authors: NIKOSHKOV A LAJIC S VLAMISGARDIKAS A TRANEBJAERG L HOLST M WEDELL A LUTHMAN H
Citation: A. Nikoshkov et al., NATURALLY-OCCURRING MUTANTS OF HUMAN STEROID 21-HYDROXYLASE (P450C21)PINPOINT RESIDUES IMPORTANT FOR ENZYME-ACTIVITY AND STABILITY, The Journal of biological chemistry, 273(11), 1998, pp. 6163-6165
ASSIGNMENT OF THE LOCUS FOR PLO-SL, A FRONTAL-LOBE DEMENTIA WITH BONE-CYSTS, TO 19Q13
Authors: PEKKARINEN P HOVATTA I HAKOLA P JARVI O KESTILA M LENKKERI U ADOLFSSON R HOLMGREN G NYLANDER PO TRANEBJAERG L TERWILLIGER JD LONNQVIST J PELTONEN L
Citation: P. Pekkarinen et al., ASSIGNMENT OF THE LOCUS FOR PLO-SL, A FRONTAL-LOBE DEMENTIA WITH BONE-CYSTS, TO 19Q13, American journal of human genetics, 62(2), 1998, pp. 362-372
GENETIC SERVICES IN NORWAY
Authors: TRANEBJAERG L BORRESENDALE AL HANSTEEN IL HEIM S KVITTINGEN EA MOLLER P
Citation: L. Tranebjaerg et al., GENETIC SERVICES IN NORWAY, European journal of human genetics, 5, 1997, pp. 130-134
ALPHA-MANNOSIDOSIS - FUNCTIONAL CLONING OF THE LYSOSOMAL ALPHA-MANNOSIDASE CDNA AND IDENTIFICATION OF A MUTATION IN 2 AFFECTED SIBLINGS
Authors: NILSSEN O BERG T RIISE HMF RAMACHANDRAN U EVJEN G HANSEN GM MALM D TRANEBJAERG L TOLLERSRUD OK
Citation: O. Nilssen et al., ALPHA-MANNOSIDOSIS - FUNCTIONAL CLONING OF THE LYSOSOMAL ALPHA-MANNOSIDASE CDNA AND IDENTIFICATION OF A MUTATION IN 2 AFFECTED SIBLINGS, Human molecular genetics, 6(5), 1997, pp. 717-726
QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY
Authors: SCHWARTZ M SORENSEN N HANSEN FJ HERTZ JM NORBY S TRANEBJAERG L SKOVBY F
Citation: M. Schwartz et al., QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY, Human molecular genetics, 6(1), 1997, pp. 99-104
MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME
Authors: CLAYTONSMITH J KERR B BRUNNER H TRANEBJAERG L MAGEE A HENNEKAM RCM MUELLER RF BRUETON L SUPER M STEENJOHNSEN J DONNAI D
Citation: J. Claytonsmith et al., MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 291-302
THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS
Authors: NARDMANN J TRANEBJAERG L HORSTHEMKE B LUDECKE HJ
Citation: J. Nardmann et al., THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS, Human genetics, 99(5), 1997, pp. 638-643
GENOME SCAN REVEALS A LOCUS FOR A PREFRONTAL DEMENTIA WITH BONE-CYSTSON CHROMOSOME-19
Authors: PEKKARINEN P HOVATTA I JARVI O LONNQVIST J ADOLFSSON R NYLANDER PO HOLMGREN G TRANEBJAERG L HAKOLA P PELTONEN L
Citation: P. Pekkarinen et al., GENOME SCAN REVEALS A LOCUS FOR A PREFRONTAL DEMENTIA WITH BONE-CYSTSON CHROMOSOME-19, American journal of medical genetics, 74(6), 1997, pp. 660-660
MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME
Authors: BITNERGLINDZICZ M TYSON J TRANEBJAERG L BELLMAN S WREN C MALCOLM S PEMBREY M BHATTACHARYA S
Citation: M. Bitnerglindzicz et al., MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME, Journal of Medical Genetics, 34, 1997, pp. 21-21
GENOME SCAN REVEALS A LOCUS FOR PLO-SL, A PREFRONTAL DEMENTIA WITH BONE-CYSTS ON CHROMOSOME-19
Authors: PEKKARINEN P HOVATTA I HAKOLA P JARVI O LONNQVIST J ADOLFSSON R NYLANDER PO HOLMGREN G TRANEBJAERG L PELTONEN L
Citation: P. Pekkarinen et al., GENOME SCAN REVEALS A LOCUS FOR PLO-SL, A PREFRONTAL DEMENTIA WITH BONE-CYSTS ON CHROMOSOME-19, American journal of human genetics, 61(4), 1997, pp. 147-147
APOLIPOPROTEIN-E ALLELES IN MOTHERS OF TRISOMY-18 CONCEPTUSES
Authors: BUGGE M HANSEN C BRANDT CA HERTZ JM TRANEBJAERG L MIKKELSEN M PETERSEN MB
Citation: M. Bugge et al., APOLIPOPROTEIN-E ALLELES IN MOTHERS OF TRISOMY-18 CONCEPTUSES, American journal of human genetics, 61(4), 1997, pp. 674-674
ALPHA-MANNOSIDOSIS - SPECTRUM OF MUTATIONS SHOWS HETEROGENEITY BUT NOOBVIOUS GENOTYPE PHENOTYPE CORRELATIONS/
Authors: RIISE HMF BERG T HANSEN GM MALM D TRANEBJAERG L TOLLERSRUD OK NILSSEN O
Citation: Hmf. Riise et al., ALPHA-MANNOSIDOSIS - SPECTRUM OF MUTATIONS SHOWS HETEROGENEITY BUT NOOBVIOUS GENOTYPE PHENOTYPE CORRELATIONS/, American journal of human genetics, 61(4), 1997, pp. 1513-1513
JENSEN-SYNDROME IS ALLELIC TO MOHR-TRANEBJAERG-SYNDROME AND BOTH ARE CAUSED BY STOP MUTATIONS IN THE DDP GENE
Authors: TRANEBJAERG L VANGHELUE M NILSSEN O HODES ME DLOUHY SR FARLOW MR HAMEL B ARTS WFM JANKOVIC J BEACH J JENSEN PKA
Citation: L. Tranebjaerg et al., JENSEN-SYNDROME IS ALLELIC TO MOHR-TRANEBJAERG-SYNDROME AND BOTH ARE CAUSED BY STOP MUTATIONS IN THE DDP GENE, American journal of human genetics, 61(4), 1997, pp. 2043-2043
ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME
Authors: TYSON J TRANEBJAERG L BELLMAN S WREN C TAYLOR J BATHEN J ASLAKSEN B SORLAND SJ LUND O MALCOLM S PEMBREY M BHATTACHARYA S BITNERGLINDZICZ M
Citation: J. Tyson et al., ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2044-2044
FULL-FIELD ELECTRORETINOGRAMS IN A FAMILY WITH MOHR-TRANEBJAERG SYNDROME
Authors: PONJAVIC V ANDREASSON S TRANEBJAERG L LUBS HA
Citation: V. Ponjavic et al., FULL-FIELD ELECTRORETINOGRAMS IN A FAMILY WITH MOHR-TRANEBJAERG SYNDROME, Acta ophthalmologica Scandinavica, 74(6), 1996, pp. 632-635
A NOVEL X-LINKED GENE, DDP, SHOWS MUTATIONS IN FAMILIES WITH DEAFNESS(DFN-1), DYSTONIA, MENTAL DEFICIENCY AND BLINDNESS
Authors: JIN H MAY M TRANEBJAERG L KENDALL E FONTAN G JACKSON J SUBRAMONY SH ARENA F LUBS H SMITH S STEVENSON R SCHWARTZ C VETRIE D
Citation: H. Jin et al., A NOVEL X-LINKED GENE, DDP, SHOWS MUTATIONS IN FAMILIES WITH DEAFNESS(DFN-1), DYSTONIA, MENTAL DEFICIENCY AND BLINDNESS, Nature genetics, 14(2), 1996, pp. 177-180
IDENTIFICATION OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT NON-SYNDROMIC HEARING IMPAIRMENT (DFNA7) IN A LARGE NORWEGIAN FAMILY
Authors: FAGERHEIM T NILSSEN O RAEYMAEKERS P BROX V MOUM T ELVERLAND HH TEIG E OMLAND HH FOSTAD GK TRANEBJAERG L
Citation: T. Fagerheim et al., IDENTIFICATION OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT NON-SYNDROMIC HEARING IMPAIRMENT (DFNA7) IN A LARGE NORWEGIAN FAMILY, Human molecular genetics, 5(8), 1996, pp. 1187-1191
MUTATION SPECTRUM IN PATIENTS WITH WISKOTT-ALDRICH SYNDROME AND X-LINKED THROMBOCYTOPENIA - IDENTIFICATION OF 12 DIFFERENT MUTATIONS IN THEWASP GENE
Authors: SCHWARTZ M BEKASSY A DONNER M HERTEL T HREIDARSON S KERNDRUP G STORMORKEN H STOKLAND T TRANEBJAERG L ORSTAVIK KH SKOVBY F
Citation: M. Schwartz et al., MUTATION SPECTRUM IN PATIENTS WITH WISKOTT-ALDRICH SYNDROME AND X-LINKED THROMBOCYTOPENIA - IDENTIFICATION OF 12 DIFFERENT MUTATIONS IN THEWASP GENE, Thrombosis and haemostasis, 75(4), 1996, pp. 546-550
7TH INTERNATIONAL WORKSHOP ON THE FRAGILE-X-LINKED AND X-LINKED MENTAL-RETARDATION
Authors: TRANEBJAERG L LUBS HA BORGHGRAEF M BROWN WT FISCH G FRYNS JP HAGERMAN R JACOBS PA MANDEL JL MULLEY J OOSTRA B SCHWARTZ C SHERMAN S WILLARD H WILLEMS P
Citation: L. Tranebjaerg et al., 7TH INTERNATIONAL WORKSHOP ON THE FRAGILE-X-LINKED AND X-LINKED MENTAL-RETARDATION, American journal of medical genetics, 64(1), 1996, pp. 1-14
INHERITANCE OF SKEWED X-CHROMOSOME INACTIVATION IN A LARGE FAMILY WITH AN X-LINKED RECESSIVE DEAFNESS SYNDROME
Authors: ORSTAVIK KH ORSTAVIK RE EIKLID K TRANEBJAERG L
Citation: Kh. Orstavik et al., INHERITANCE OF SKEWED X-CHROMOSOME INACTIVATION IN A LARGE FAMILY WITH AN X-LINKED RECESSIVE DEAFNESS SYNDROME, American journal of medical genetics, 64(1), 1996, pp. 31-34
XLMR GENES - UPDATE 1996
Authors: LUBS HA CHIURAZZI P ARENA JF SCHWARTZ C TRANEBJAERG L NERI G
Citation: Ha. Lubs et al., XLMR GENES - UPDATE 1996, American journal of medical genetics, 64(1), 1996, pp. 147-157
Risultati: 1-25 | 26-38