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Results: 1-20 |
Results: 20
A SWEDISH FAMILY WITH A MUTATION IN THE PERIPHERIN RDS GENE (ARG-172-TRP) ASSOCIATED WITH A PROGRESSIVE RETINAL DEGENERATION/
Authors: EKSTROM U ANDREASSON S PONJAVIC V ABRAHAMSON M SANDGREN O NILSSONEHLE P EHINGER B
Citation: U. Ekstrom et al., A SWEDISH FAMILY WITH A MUTATION IN THE PERIPHERIN RDS GENE (ARG-172-TRP) ASSOCIATED WITH A PROGRESSIVE RETINAL DEGENERATION/, Ophthalmic genetics, 19(3), 1998, pp. 149-156
ANALYSIS OF X-RAY-DIFFRACTION PATTERNS FROM AMYLOID OF BIOPSIED VITREOUS-HUMOR AND KIDNEY OF TRANSTHYRETIN (TTR) MET30 FAMILIAL AMYLOIDOTICPOLYNEUROPATHY (FAP) PATIENTS - AXIALLY ARRAYED TTR MONOMERS CONSTITUTE THE PROTOFILAMENT
Authors: INOUYE H DOMINGUES FS DAMAS AM SARAIVA MJ LUNDGREN E SANDGREN O KIRSCHNER DA
Citation: H. Inouye et al., ANALYSIS OF X-RAY-DIFFRACTION PATTERNS FROM AMYLOID OF BIOPSIED VITREOUS-HUMOR AND KIDNEY OF TRANSTHYRETIN (TTR) MET30 FAMILIAL AMYLOIDOTICPOLYNEUROPATHY (FAP) PATIENTS - AXIALLY ARRAYED TTR MONOMERS CONSTITUTE THE PROTOFILAMENT, Amyloid (Carnforth), 5(3), 1998, pp. 163-174
IDENTIFICATION OF THE GENE RESPONSIBLE FOR BEST MACULAR DYSTROPHY
Authors: PETRUKHIN K KOISTI MJ BAKALL B LI W XIE GC MARKNELL T SANDGREN O FORSMAN K HOLMGREN G ANDREASSON S VUJIC M BERGEN AAB MCGARTYDUGAN V FIGUEROA D AUSTIN CP METZKER ML CASKEY CT WADELIUS C
Citation: K. Petrukhin et al., IDENTIFICATION OF THE GENE RESPONSIBLE FOR BEST MACULAR DYSTROPHY, Nature genetics, 19(3), 1998, pp. 241-247
FAMILIAL AMYLOID POLYNEUROPATHY (FAP-MET30) IN PORTUGAL AND SWEDEN - PHENOTYPIC VARIABILITY AND DEPARTURES FROM MENDELIAN INHERITANCE
Authors: SOUSA A COELHO T LOBATO L BARROS J FERREIRA C ANDERSSON R DRUGGE U SANDGREN O HOLMGREN G SEQUEIROS J
Citation: A. Sousa et al., FAMILIAL AMYLOID POLYNEUROPATHY (FAP-MET30) IN PORTUGAL AND SWEDEN - PHENOTYPIC VARIABILITY AND DEPARTURES FROM MENDELIAN INHERITANCE, European journal of human genetics, 6, 1998, pp. 3042-3042
EXPANDED CAG REPEATS IN SWEDISH SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) PATIENTS - EFFECT OF CAG REPEAT LENGTH ON THE CLINICAL MANIFESTATION
Authors: JOHANSSON J FORSGREN L SANDGREN O BRICE A HOLMGREN G HOLMBERG M
Citation: J. Johansson et al., EXPANDED CAG REPEATS IN SWEDISH SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) PATIENTS - EFFECT OF CAG REPEAT LENGTH ON THE CLINICAL MANIFESTATION, Human molecular genetics, 7(2), 1998, pp. 171-176
DEALING WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE-III, AND ITS CANDIDATE GENE
Authors: WAHLIN A SANDSTROM H LIND L HOLMGREN G SANDGREN O WICKRAMASINGHE S
Citation: A. Wahlin et al., DEALING WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE-III, AND ITS CANDIDATE GENE, British Journal of Haematology, 102(1), 1998, pp. 3-3
REFINED GENETIC LOCALIZATION OF THE BEST-DISEASE GENE IN 11Q13 AND PHYSICAL MAPPING OF LINKED MARKERS ON RADIATION HYBRIDS
Authors: GRAFF C ERIKSSON A FORSMAN K SANDGREN O HOLMGREN G WADELIUS C
Citation: C. Graff et al., REFINED GENETIC LOCALIZATION OF THE BEST-DISEASE GENE IN 11Q13 AND PHYSICAL MAPPING OF LINKED MARKERS ON RADIATION HYBRIDS, Human genetics, 101(3), 1997, pp. 263-270
ANGIOID STREAKS ARE PART OF A FAMILIAL SYNDROME OF DYSERYTHROPOIETIC ANEMIA (CDA-III)
Authors: SANDSTROM H WAHLIN A ERIKSSON M HOLMGREN G LIND L SANDGREN O
Citation: H. Sandstrom et al., ANGIOID STREAKS ARE PART OF A FAMILIAL SYNDROME OF DYSERYTHROPOIETIC ANEMIA (CDA-III), British Journal of Haematology, 98(4), 1997, pp. 845-849
CHARACTERIZATION OF 2 HIGHLY AMYLOIDOGENIC MUTANTS OF TRANSTHYRETIN
Authors: GOLDSTEINS G ANDERSSON K OLOFSSON A DACKLIN I EDVINSSON A BARANOV V SANDGREN O THYLEN C HAMMARSTROM S LUNDGREN E
Citation: G. Goldsteins et al., CHARACTERIZATION OF 2 HIGHLY AMYLOIDOGENIC MUTANTS OF TRANSTHYRETIN, Biochemistry, 36(18), 1997, pp. 5346-5352
MUSCLE MORPHOLOGY AND MITOCHONDRIAL INVESTIGATIONS OF A FAMILY WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA AND RETINAL DEGENERATION MAPPED TOCHROMOSOME 3P12-P21.1
Authors: FORSGREN L LIBELIUS R HOLMBERG M VONDOBELN U WIBOM R HEIJBEL J SANDGREN O HOLMGREN G
Citation: L. Forsgren et al., MUSCLE MORPHOLOGY AND MITOCHONDRIAL INVESTIGATIONS OF A FAMILY WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA AND RETINAL DEGENERATION MAPPED TOCHROMOSOME 3P12-P21.1, Journal of the neurological sciences, 144(1-2), 1996, pp. 91-98
PRIMARY LOCALIZED AMYLOIDOSIS OF THE EYELID - 2 CASES OF IMMUNOGLOBULIN LIGHT CHAIN-DERIVED PROTEINS, SUBTYPE LAMBDA-V RESPECTIVELY LAMBDA-VI
Authors: OLSEN KE SANDGREN O SLETTEN K WESTERMARK P
Citation: Ke. Olsen et al., PRIMARY LOCALIZED AMYLOIDOSIS OF THE EYELID - 2 CASES OF IMMUNOGLOBULIN LIGHT CHAIN-DERIVED PROTEINS, SUBTYPE LAMBDA-V RESPECTIVELY LAMBDA-VI, Clinical and experimental immunology, 106(2), 1996, pp. 362-366
A NEW SIMPLE AND RAPID SCREENING METHOD FOR VARIANT TRANSTHYRETIN-RELATED AMYLOIDOSIS
Authors: ANDO Y OHLSSON PI SUHR O NYHLIN N YAMASHITA T HOLMGREN G DANIELSSON A SANDGREN O UCHINO M ANDO M
Citation: Y. Ando et al., A NEW SIMPLE AND RAPID SCREENING METHOD FOR VARIANT TRANSTHYRETIN-RELATED AMYLOIDOSIS, Biochemical and biophysical research communications, 228(2), 1996, pp. 480-483
LOCALIZATION OF AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA ASSOCIATED WITH RETINAL DEGENERATION AND ANTICIPATION TO CHROMOSOME 3P12-P21.1
Authors: HOLMBERG M JOHANSSON J FORSGREN L HEIJBEL J SANDGREN O HOLMGREN G
Citation: M. Holmberg et al., LOCALIZATION OF AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA ASSOCIATED WITH RETINAL DEGENERATION AND ANTICIPATION TO CHROMOSOME 3P12-P21.1, Human molecular genetics, 4(8), 1995, pp. 1441-1445
A GENE FOR AUTOSOMAL-DOMINANT PROGRESSIVE CONE DYSTROPHY (CORD5) MAPSTO CHROMOSOME 17P12-P13
Authors: BALCIUNIENE J JOHANSSON K SANDGREN O WACHTMEISTER L HOLMGREN G FORSMAN K
Citation: J. Balciuniene et al., A GENE FOR AUTOSOMAL-DOMINANT PROGRESSIVE CONE DYSTROPHY (CORD5) MAPSTO CHROMOSOME 17P12-P13, Genomics, 30(2), 1995, pp. 281-286
OCULAR AMYLOIDOSIS, WITH SPECIAL REFERENCE TO THE HEREDITARY FORMS WITH VITREOUS INVOLVEMENT
Authors: SANDGREN O
Citation: O. Sandgren, OCULAR AMYLOIDOSIS, WITH SPECIAL REFERENCE TO THE HEREDITARY FORMS WITH VITREOUS INVOLVEMENT, Survey of ophthalmology, 40(3), 1995, pp. 173-196
HIGH-RESOLUTION MEIOTIC MAPPING OF THE BESTS MACULAR DYSTROPHY - THE GENE IS FLANKED BY UGB AND FCERI
Authors: WADELIUS C GRAFF C FORSMAN K ERIKSSON A SANDGREN O WEISSENBACH J HOLMGREN G GUSTAVSON KH
Citation: C. Wadelius et al., HIGH-RESOLUTION MEIOTIC MAPPING OF THE BESTS MACULAR DYSTROPHY - THE GENE IS FLANKED BY UGB AND FCERI, American journal of human genetics, 57(4), 1995, pp. 1176-1176
FINE MAPPING OF BESTS MACULAR DYSTROPHY LOCALIZES THE GENE IN CLOSE PROXIMITY TO BUT DISTINCT FROM THE D11S480 ROM1 LOCI/
Authors: GRAFF C FORSMAN K LARSSON C NORDSTROM S LIND L JOHANSSON K SANDGREN O WEISSENBACH J HOLMGREN G GUSTAVSON KH WADELIUS C
Citation: C. Graff et al., FINE MAPPING OF BESTS MACULAR DYSTROPHY LOCALIZES THE GENE IN CLOSE PROXIMITY TO BUT DISTINCT FROM THE D11S480 ROM1 LOCI/, Genomics, 24(3), 1994, pp. 425-434
FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN SWEDEN - A PEDIGREE ANALYSIS
Authors: DRUGGE U ANDERSSON R CHIZARI F DANIELSSON M HOLMGREN G SANDGREN O SOUSA A
Citation: U. Drugge et al., FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN SWEDEN - A PEDIGREE ANALYSIS, Journal of Medical Genetics, 30(5), 1993, pp. 388-392
DETAILED MAPPING OF HEREDITARY VITTELIFORM MACULAR DYSTROPHY
Authors: WADELIUS C GRAFF C FORSMAN K LIND L WESTERMARK E LARSSON C SANDGREN O GUSTAVSON KH HOLMGREN G
Citation: C. Wadelius et al., DETAILED MAPPING OF HEREDITARY VITTELIFORM MACULAR DYSTROPHY, American journal of human genetics, 53(3), 1993, pp. 1718-1718
FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN SWEDEN - GEOGRAPHICAL-DISTRIBUTION, AGE-OF-ONSET, AND PREVALENCE
Authors: SOUSA A ANDERSSON R DRUGGE U HOLMGREN G SANDGREN O
Citation: A. Sousa et al., FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN SWEDEN - GEOGRAPHICAL-DISTRIBUTION, AGE-OF-ONSET, AND PREVALENCE, Human heredity, 43(5), 1993, pp. 288-294
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