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Results: 1-25/38
Authors:
Erlandson, A
Hallberg, B
Hagberg, B
Wahlstrom, J
Martinsson, T
Citation: A. Erlandson et al., MECP2 mutation screening in Swedish classical Rett syndrome females, EUR CHILD A, 10(2), 2001, pp. 117-121
Authors:
Bergman, A
Einbeigi, Z
Olofsson, U
Taib, Z
Wallgren, A
Karlsson, P
Wahlstrom, J
Martinsson, T
Nordling, M
Citation: A. Bergman et al., The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation, EUR J HUM G, 9(10), 2001, pp. 787-793
Authors:
Einbeigi, Z
Bergman, A
Kindblom, LG
Martinsson, T
Meis-Kindblom, JM
Nordling, M
Suurkula, M
Wahlstrom, J
Wallgren, A
Karlsson, P
Citation: Z. Einbeigi et al., A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer, EUR J CANC, 37(15), 2001, pp. 1904-1909
Authors:
Astuti, D
Agathanggelou, A
Honorio, S
Dallol, A
Martinsson, T
Kogner, P
Cummins, C
Neumann, HPH
Voutilainen, R
Dahia, P
Eng, C
Maher, ER
Latif, F
Citation: D. Astuti et al., RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours, ONCOGENE, 20(51), 2001, pp. 7573-7577
Authors:
Gabre, P
Martinsson, T
Gahnberg, L
Citation: P. Gabre et al., Longitudinal study of dental caries, tooth mortality and interproximal bone loss in adults with intellectual disability, EUR J OR SC, 109(1), 2001, pp. 20-26
Authors:
Erlandson, A
Bjursell, C
Stibler, H
Kristiansson, B
Wahlstrom, J
Martinsson, T
Citation: A. Erlandson et al., Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations, HUM GENET, 108(5), 2001, pp. 359-367
Authors:
Schilling, FH
Ambros, PF
Bihl, H
Martinsson, T
Ambros, IM
Borgstrom, P
Jacobsson, H
Falkmer, UG
Treuner, J
Kogner, P
Citation: Fh. Schilling et al., Absence of somatostatin receptor expression in vivo is correlated to di- or tetraploid 1p36-deleted neuroblastomas, MED PED ONC, 36(1), 2001, pp. 56-60
Authors:
Ejeskar, K
Sjoberg, RM
Abel, F
Kogner, P
Ambros, PF
Martinsson, T
Citation: K. Ejeskar et al., Fine mapping of a tumour suppressor candidate gene region in 1p36.2-3, commonly deleted in neuroblastomas and germ cell tumours, MED PED ONC, 36(1), 2001, pp. 61-66
Authors:
Strandvik, B
Gronowitz, E
Enlund, F
Martinsson, T
Wahlstrom, J
Citation: B. Strandvik et al., Essential fatty acid deficiency in relation to genotype in patients with cystic fibrosis, J PEDIAT, 139(5), 2001, pp. 650-655
Authors:
Gabre, P
Wikstrom, M
Martinsson, T
Gahnberg, L
Citation: P. Gabre et al., Move of adults with mental retardation from institutions to community-based living: Changes in the oral microbiological flora, J DENT RES, 80(2), 2001, pp. 421-426
Authors:
Bjork, J
Akerbrant, H
Iselius, L
Bergman, A
Engwall, Y
Wahlstrom, J
Martinsson, T
Nordling, M
Hultcrantz, R
Citation: J. Bjork et al., Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: Cumulative risks and APC gene mutations, GASTROENTY, 121(5), 2001, pp. 1127-1135
Authors:
Erlandson, A
Stibler, H
Kristiansson, B
Wahlstrom, J
Martinsson, T
Citation: A. Erlandson et al., Denaturing high-performance liquid chromatography is a suitable method forPMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients, GENET TEST, 4(3), 2000, pp. 293-297
Authors:
Matthijs, G
Schollen, E
Bjursell, C
Erlandson, A
Freeze, H
Imtiaz, F
Kjaergaard, S
Martinsson, T
Schwartz, M
Seta, N
Vuillaumier-Barrot, S
Westphal, V
Winchester, B
Citation: G. Matthijs et al., Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia), HUM MUTAT, 16(5), 2000, pp. 386-394
Authors:
Bjursell, C
Erlandson, A
Nordling, M
Nilsson, S
Wahlstrom, J
Stibler, H
Kristiansson, B
Martinsson, T
Citation: C. Bjursell et al., PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families, HUM MUTAT, 16(5), 2000, pp. 395-400
Authors:
Jogi, A
Abel, F
Sjoberg, RM
Toftgard, R
Zaphiropoulos, PG
Pahlman, S
Martinsson, T
Axelson, H
Citation: A. Jogi et al., Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors, INT J ONCOL, 16(5), 2000, pp. 943-949
Authors:
Enerback, C
Nilsson, S
Enlund, F
Inerot, A
Samuelsson, L
Wahlstrom, J
Swanbeck, G
Martinsson, T
Citation: C. Enerback et al., Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients, ARCH DERM R, 292(11), 2000, pp. 525-530
Authors:
Ejeskar, K
Abel, F
Sjoberg, RM
Backstrom, J
Kogner, P
Martinsson, T
Citation: K. Ejeskar et al., Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3 -> p36.2, but absence of mutations in primary tumors, CYTOG C GEN, 89(1-2), 2000, pp. 62-66
Authors:
Schilling, FH
Bihl, H
Jacobsson, H
Ambros, PF
Martinsson, T
Borgstrom, P
Schwarz, K
Ambros, IM
Treuner, J
Kogner, P
Citation: Fh. Schilling et al., Combined In-111-pentetreotide scintigraphy and I-123-mIBG scintigraphy in neuroblastoma provides prognostic information, MED PED ONC, 35(6), 2000, pp. 688-691
Authors:
Martinsson, T
Oldfors, A
Darin, N
Berg, K
Tajsharghi, H
Kyllerman, M
Wahlstrom, J
Citation: T. Martinsson et al., Autosomal dominant myopathy: Missense mutation (Glu-706 -> Lys) in the myosin heavy chain IIa gene, P NAS US, 97(26), 2000, pp. 14614-14619
Authors:
Enerback, C
Enlund, F
Inerot, A
Samuelsson, L
Wahlstrom, J
Swanbeck, G
Martinsson, T
Citation: C. Enerback et al., S gene (Corneodesmosin) diversity and its relationship to psoriasis; High content of cSNP in the HLA-linked S gene, J INVES DER, 114(6), 2000, pp. 1158-1163
Authors:
Jansson, M
Darin, N
Kyllerman, M
Martinsson, T
Wahlstrom, J
Oldfors, A
Citation: M. Jansson et al., Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy, ACT NEUROP, 100(1), 2000, pp. 23-28
Authors:
Naluai, AT
Nilsson, S
Samuelsson, L
Gudjonsdottir, AH
Ascher, H
Ek, J
Hallberg, B
Kristiansson, B
Martinsson, T
Nerman, O
Sollid, LM
Wahlstrom, J
Citation: At. Naluai et al., The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders, TISSUE ANTI, 56(4), 2000, pp. 350-355
Authors:
Ejeskar, K
Sjoberg, RM
Kogner, P
Martinsson, T
Citation: K. Ejeskar et al., Variable expression and absence of mutations in p73 in primary neuroblastoma tumors argues against a role in neuroblastoma development, INT J MOL M, 3(6), 1999, pp. 585-589
Authors:
Enlund, F
Samuelsson, L
Enerback, C
Inerot, A
Wahlstrom, J
Yhr, M
Torinsson, A
Riley, J
Swanbeck, G
Martinsson, T
Citation: F. Enlund et al., Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden, EUR J HUM G, 7(7), 1999, pp. 783-790
Authors:
Enerback, C
Holmqvist, D
Inerot, A
Enlund, F
Samuelsson, L
Torinsson, A
Wahlstrom, J
Swanbeck, G
Martinsson, T
Citation: C. Enerback et al., Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q, EUR J HUM G, 7(3), 1999, pp. 339-344