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Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Journal of community genetics, 2021-04, Vol.12 (2), p.277-290

2021

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Prolonged survival in a patient with a novel pyrroline‐5‐carboxylase reductase 2 genetic variant

European journal of neurology, 2019-04, Vol.26 (4), p.e45-e46

2019

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The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

Public health genomics, 2013-01, Vol.16 (5), p.241-250

2013

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“I would like to discuss it further with an expert”: a focus group study of Finnish adults’ perspectives on genetic secondary findings

Journal of community genetics, 2018-07, Vol.9 (3), p.305-314

2018

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Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing

Journal of medical genetics, 2007-11, Vol.44 (11), p.732-738

2007

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APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Acta neurologica Scandinavica, 2015-12, Vol.132 (6), p.430-434

2015

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Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

Journal of clinical oncology, 2000-06, Vol.18 (11), p.2193-2200

2000

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Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

JNCI : Journal of the National Cancer Institute, 2001-01, Vol.93 (2), p.121-127

2001

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Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

Neurology, 2002-08, Vol.59 (4), p.630-633

2002

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Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

Human molecular genetics, 2001-07, Vol.10 (14), p.1503-1510

2001

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Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

American journal of human genetics, 2001-08, Vol.69 (2), p.440-446

2001

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Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia

British journal of cancer, 2005-07, Vol.93 (2), p.260-265

2005

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Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer

Journal of medical genetics, 2001-11, Vol.38 (11), p.787-792

2001

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Psychological consequences of predictive genetic testing for hereditary non‐polyposis colorectal cancer (HNPCC): A prospective follow‐up study

International journal of cancer, 2001-08, Vol.93 (4), p.608-611

2001

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Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

Nature genetics, 1994-07, Vol.7 (3), p.429-432

1994

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New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

Clinical genetics, 2004-07, Vol.66 (1), p.53-57

2004

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Genetic Screening in Europe

Public health genomics, 2010-01, Vol.13 (7/8), p.524-537

2010

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Predictive genetic testing for hereditary non‐polyposis colorectal cancer: Uptake and long‐term satisfaction

International journal of cancer, 2000-01, Vol.89 (1), p.44-50

2000

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Correspondence between the molecular genetic analysis and electron microscopic detection of granular osmiophilic material in CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.293-294

2009

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Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

American journal of human genetics, 2000-02, Vol.66 (2), p.368-377

2000

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Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease

Acta neurochirurgica, 1999-01, Vol.141 (11), p.1147-1156

1999

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Microsatellite Instability in Adenomas as a Marker for Hereditary Nonpolyposis Colorectal Cancer

The American journal of pathology, 1999-12, Vol.155 (6), p.1849-1853

1999

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Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population

Human molecular genetics, 1997-11, Vol.6 (12), p.2069-2076

1997

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Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

Human mutation, 2000-09, Vol.16 (3), p.232-246

2000

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Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

The New England journal of medicine, 1998-05, Vol.338 (21), p.1481-1487

1998

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Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Prolonged survival in a patient with a novel pyrroline‐5‐carboxylase reductase 2 genetic variant

The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

“I would like to discuss it further with an expert”: a focus group study of Finnish adults’ perspectives on genetic secondary findings

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia

Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer

Psychological consequences of predictive genetic testing for hereditary non‐polyposis colorectal cancer (HNPCC): A prospective follow‐up study

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

Genetic Screening in Europe

Predictive genetic testing for hereditary non‐polyposis colorectal cancer: Uptake and long‐term satisfaction

Correspondence between the molecular genetic analysis and electron microscopic detection of granular osmiophilic material in CADASIL

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease

Microsatellite Instability in Adenomas as a Marker for Hereditary Nonpolyposis Colorectal Cancer

Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population

Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

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