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Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation

European journal of endocrinology, 2007-09, Vol.157 (3), p.285

2007

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Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition

Journal of endocrinological investigation, 2009-06, Vol.32 (6), p.512-518

2009

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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, 1998-08, Vol.83 (8), p.2621-2626

1998

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Hereditary spinal neurofibromatosis: a rare form of NF1?

Journal of medical genetics, 1997-03, Vol.34 (3), p.184-187

1997

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Characterization of the full fragile X syndrome mutation in fetal gametes

Nature genetics, 1997-02, Vol.15 (2), p.165-169

1997

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Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland

Journal of medical genetics, 2000-08, Vol.37 (8), p.632-636

2000

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Founder mutations and the high prevalence of myotonia congenita in northern Finland

Neurology, 1999-07, Vol.53 (2), p.297

1999

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Effect of Multiple Endocrine Neoplasia Type 1 (MEN1) Gene Mutations on Premature Mortality in Familial MEN1 Syndrome with Founder Mutations

The journal of clinical endocrinology and metabolism, 2004-07, Vol.89 (7), p.3392-3396

2004

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Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

American journal of human genetics, 1998-06, Vol.62 (6), p.1544-1548

1998

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Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

European journal of human genetics : EJHG, 1999-07, Vol.7 (5), p.541-548

1999

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The Gene for a Recessively Inherited Human Childhood Progressive Epilepsy with Mental Retardation Maps to the Distal Short Arm of Chromosome 8

Proceedings of the National Academy of Sciences - PNAS, 1994-07, Vol.91 (15), p.7267-7270

1994

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Myotonia congenita in northern Finland: an epidemiological and genetic study

Journal of medical genetics, 1998-04, Vol.35 (4), p.293-296

1998

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Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland

Journal of medical genetics, 2001-03, Vol.38 (3), p.185-189

2001

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Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

Human genetics, 1999-09, Vol.105 (3), p.258-260

1999

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Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years

Neuropediatrics, 1994-12, Vol.25 (6), p.308

1994

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DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer

Human molecular genetics, 1996-06, Vol.5 (6), p.763-769

1996

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Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

American journal of human genetics, 1996-09, Vol.59 (3), p.540-546

1996

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Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero

Pediatrics (Evanston), 1992-04, Vol.89 (4 Pt 2), p.730

1992

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UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004-04, Vol.126A (3), p.248-252

2004

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Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

The Laryngoscope, 2003-10, Vol.113 (10), p.1758-1763

2003

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An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Human genetics, 2000-07, Vol.107 (1), p.83-85

2000

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A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat

Journal of medical genetics, 1995-01, Vol.32 (1), p.65-67

1995

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A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

Journal of molecular medicine (Berlin, Germany), 2004-08, Vol.82 (8), p.550-554

2004

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Chromosome Aberrations in Lymphocytes of Nurses Handling Cytostatic Agents

Scandinavian Journal of Work, Environment ＆ Health, 1984-04, Vol.10 (2), p.71-74

1984

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Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism

Hereditary spinal neurofibromatosis: a rare form of NF1?

Characterization of the full fragile X syndrome mutation in fetal gametes

Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland

Founder mutations and the high prevalence of myotonia congenita in northern Finland

Effect of Multiple Endocrine Neoplasia Type 1 (MEN1) Gene Mutations on Premature Mortality in Familial MEN1 Syndrome with Founder Mutations

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

Identification of the familial cylindromatosis tumour-suppressor gene

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

The Gene for a Recessively Inherited Human Childhood Progressive Epilepsy with Mental Retardation Maps to the Distal Short Arm of Chromosome 8

Myotonia congenita in northern Finland: an epidemiological and genetic study

Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years

DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

Chromosome Aberrations in Lymphocytes of Nurses Handling Cytostatic Agents

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