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Autosomal Dominant Myopathy: Missense Mutation (Gly-706 → Lys) in the Myosin Heavy Chain IIa Gene

Proceedings of the National Academy of Sciences - PNAS, 2000-12, Vol.97 (26), p.14614-14619

2000

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Familial Dyslexia in a Large Swedish Family: A Whole Genome Linkage Scan

Behavior genetics, 2011, Vol.41 (1), p.43-49

2011

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A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family

Cancer research (Chicago, Ill.), 1998-04, Vol.58 (7), p.1372-1375

1998

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Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL

Brain (London, England : 1878), 2007-02, Vol.130 (2), p.357-367

2007

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A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families

American journal of human genetics, 2000-11, Vol.67 (5), p.1314-1319

2000

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Novel Findings in Swedish Patients With MYH-Associated Polyposis: Mutation Detection and Clinical Characterization

Clinical gastroenterology and hepatology, 2006-04, Vol.4 (4), p.499-506

2006

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Mutations and sequence variation in the human myosin heavy chain IIa gene ( )

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.617-622

2005

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The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation

European journal of human genetics : EJHG, 2001-10, Vol.9 (10), p.787-793

2001

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Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

Human genetics, 2001-05, Vol.108 (5), p.359-367

2001

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Dominant Hereditary Inclusion-Body Myopathy Gene ( IBM3) Maps to Chromosome Region 17p13.1

American journal of human genetics, 1999-05, Vol.64 (5), p.1420-1426

1999

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Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

American journal of human genetics, 1992-12, Vol.51 (6), p.1201-1212

1992

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Leber's hereditary optic neuropathy and complex I deficiency in muscle

Annals of neurology, 1991-11, Vol.30 (5), p.701-708

1991

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Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients

Archives of Dermatological Research, 2000-11, Vol.292 (11), p.525-530

2000

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Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes

International journal of molecular medicine, 2004-01, Vol.13 (1), p.47

2004

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Anticipation in Swedish families with bipolar affective disorder

Journal of medical genetics, 1994-09, Vol.31 (9), p.686-689

1994

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Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy

Acta neuropathologica, 2000-07, Vol.100 (1), p.23-28

2000

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Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

European journal of human genetics : EJHG, 1998-11, Vol.6 (6), p.603-611

1998

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Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

Human molecular genetics, 1994-11, Vol.3 (11), p.2037-2042

1994

Volltextzugriff (PDF)

Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus

American journal of human genetics, 1995-11, Vol.57 (5), p.1104-1113

1995

Volltextzugriff (PDF)

Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families

Genomics (San Diego, Calif.), 1997-02, Vol.39 (3), p.247-253

1997

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The BRCA1 exon 13 duplication in the Swedish population

Familial cancer, 2005-01, Vol.4 (2), p.191-194

2005

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De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

Human genetics, 1995-09, Vol.96 (3), p.290-294

1995

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Rett syndrome, classical and atypical: genealogical support for common origin

Journal of medical genetics, 1996-09, Vol.33 (9), p.764-766

1996

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Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli

Anticancer research, 1997-11, Vol.17 (6D), p.4275

1997

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Rett syndrome: potential gene sources - phenotypical variability

Clinical genetics, 1995-10, Vol.48 (4), p.169-172

1995

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Autosomal Dominant Myopathy: Missense Mutation (Gly-706 → Lys) in the Myosin Heavy Chain IIa Gene

Familial Dyslexia in a Large Swedish Family: A Whole Genome Linkage Scan

A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family

Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL

A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families

Novel Findings in Swedish Patients With MYH-Associated Polyposis: Mutation Detection and Clinical Characterization

Mutations and sequence variation in the human myosin heavy chain IIa gene ( )

The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

Dominant Hereditary Inclusion-Body Myopathy Gene ( IBM3) Maps to Chromosome Region 17p13.1

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

Leber's hereditary optic neuropathy and complex I deficiency in muscle

Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients

Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes

Anticipation in Swedish families with bipolar affective disorder

Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus

Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families

The BRCA1 exon 13 duplication in the Swedish population

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

Rett syndrome, classical and atypical: genealogical support for common origin

Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli

Rett syndrome: potential gene sources - phenotypical variability

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