Lista de obras - Ketil R Heimdal - Dominio Público Uruguay

15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems

artículo científico publicado en 2010

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

artículo científico publicado en 1997

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ⬇️

artículo científico publicado en 2015

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

artículo científico publicado en 2018

A segregation analysis of testicular cancer based on Norwegian and Swedish families

artículo científico publicado en 1997

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

artículo científico publicado en 2009

Abnormally wide eustachian tubes involving the sphenoid bone: A collection

Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors

artículo científico publicado en 2008

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome ⬇️

artículo científico publicado el 28 de febrero de 2013

Association studies of a polymorphism in the Wilms' tumor 1 locus in Norwegian patients with testicular cancer

artículo científico publicado en 1994

Association studies of estrogen receptor polymorphisms in a Norwegian testicular cancer population.

artículo científico publicado en 1995

BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations

artículo científico publicado en 1999

BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample

artículo científico publicado en 2004

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family

artículo científico publicado en 2018

Causes of hearing impairment in the Norwegian paediatric cochlear implant program

artículo científico publicado en 2010

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

artículo científico publicado en 2024

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

article by Juul T. Wijnen et al published 20 August 1998 in The New England Journal of Medicine

Clinical and biochemical long-term toxicity after postoperative cisplatin-based chemotherapy in patients with low-stage testicular cancer

artículo científico publicado en 1995

Clinical implications of BRCA1 genetic testing

scientific article published on 01 April 1998

Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway

artículo científico publicado en 2005

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

artículo científico publicado en 2012

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

artículo científico publicado en 2009

Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.

artículo científico publicado en 2015

Costs and benefits of diagnosing familial breast cancer

scientific article published on 01 October 1999

DNA ploidy in primary testicular cancer

artículo científico publicado en 1991

Efficacy of early diagnosis and treatment in women with a family history of breast cancer. European Familial Breast Cancer Collaborative Group.

artículo científico publicado en 1999

Familial testicular cancer in Norway and southern Sweden

artículo científico publicado en 1996

Frequent loss of 11p13 and 11p15 loci in male germ cell tumours

scientific article published on 01 June 1993

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

artículo científico publicado en 2018

Genetic epidemiology of BRCA1 mutations in Norway

artículo científico publicado en 2001

Genetic factors in malignant germ-cell tumors

artículo científico publicado en 1994

Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

artículo científico publicado en 2006

Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history

artículo científico publicado en 1993

Germline PTEN mutations are rare and highly penetrant

artículo científico publicado en 2006

Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer

artículo científico publicado en 1999

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

artículo científico publicado en 2017

High resolution chromosome banding in search of germ line mutations applied on testicular cancer patients

artículo científico publicado en 1992

Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2005

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

artículo científico publicado en 2017

Increasing incidence and changing stage distribution of testicular carcinoma in Norway 1970-1987

artículo científico publicado en 1990

Inherited breast carcinoma--prospective findings in 1,194 women at risk

artículo científico publicado en 1996

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis

artículo científico publicado en 1997

Inherited predisposition to breast carcinoma. Results of first round examination of 537 women at risk

artículo científico publicado en 1996

Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance

scientific article published on April 2008

Karyotyping of a hematologic neoplasia developing shortly after treatment for cerebral extragonadal germ cell tumor

artículo científico publicado en 1991

Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment.

artículo científico publicado en 2017

Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study

artículo científico publicado en 2012

Long-term experience with intranasal bevacizumab therapy

artículo científico publicado en 2018

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer

artículo científico publicado en 2005

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

artículo científico publicado en 2015

Mutation-Specific Survival of Inherited Breast Cancer

artículo científico publicado en 1999

National registries of rare diseases in Europe: an overview of the current situation and experiences

artículo científico publicado en 2014

No evidence for constitutional chromosome instability in testicular cancer

artículo científico publicado en 1992

No germline TP53 mutations detected in familial and bilateral testicular cancer

artículo científico publicado en 1993

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

artículo científico publicado en 2013

Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families

artículo científico publicado en 2015

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation

artículo científico publicado en 2007

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

artículo científico publicado en 2012

Obstructive sleep apnea in Treacher Collins syndrome.

artículo científico publicado en 2011

Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility

artículo científico publicado en 1994

Oral contraceptives and risk of familial breast cancer

scientific article published on 01 January 2002

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2002

Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report

artículo científico publicado en 2017

Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review ⬇️

artículo científico publicado el 26 de octubre de 2012

Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer

artículo científico publicado en 1999

Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis

artículo científico publicado en 2018

Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study

artículo científico publicado en 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

Prognostic significance of TP53 alterations in breast carcinoma

artículo científico publicado en 1993

Prospectively detected cancer in familial breast/ovarian cancer screening

artículo científico publicado en 1999

Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer

artículo científico publicado en 2008

Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations

artículo científico publicado en 2005

Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation

artículo científico publicado en 2006

Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study

artículo científico publicado en 2012

Rare Ha-ras1 alleles and predisposition to testicular cancer

artículo científico publicado en 1993

Regression analyses of prognostic factors in metastatic malignant melanoma

artículo científico publicado en 1989

Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein

artículo científico publicado en 2016

Risk of cancer in relatives of testicular cancer patients.

artículo científico publicado en 1996

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

artículo científico publicado en 2014

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

artículo científico publicado en 2020

Second cancer after treatment of malignant germ-cell tumors

artículo científico publicado en 1994

Somatic mutations of KIT in familial testicular germ cell tumours

artículo científico publicado en 2004

Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators. The EU Biomed Collaborators

artículo científico publicado en 2000

Survival after palliative radiotherapy of liver metastases. A search for prognostic factors

scientific article published on 01 January 1988

Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics,BRCAmutations and oophorectomy

article

Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group

artículo científico publicado en 2000

The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series

artículo científico publicado en 2001

The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred

artículo científico publicado en 2009

The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer

artículo científico publicado en 2003

The Y deletion gr/gr and susceptibility to testicular germ cell tumor

artículo científico publicado en 2005

The cardiac phenotype in patients with a CHD7 mutation.

artículo científico publicado en 2013

The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours

artículo científico publicado en 2003

The problem of skipped generation and subclinical disease in familial breast-ovarian cancer

scientific article published on 01 February 1997

Two male sibs with severe micrognathia and a missense variant in MED12.

artículo científico publicado en 2016

Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway

scientific article published on 01 October 2003

Uptake of genetic testing and pre-test levels of mental distress in Norwegian families with known BRCA1 mutations

artículo científico publicado en 1999

Urologic cancer in elderly patients

artículo científico publicado en 1993

Use of Cytology to Diagnose Inherited Breast Cancer

Younger age-at-diagnosis for familial malignant testicular germ cell tumor

artículo científico publicado en 2009

[Baker's cyst with concomitant deep venous thrombosis]

artículo científico publicado en 1985

[European guidelines for health care in hereditary breast cancer]

scientific article published on 01 February 2000

[Hereditary breast cancer in Norway]

artículo científico publicado en 1999

[Hereditary colorectal cancer]

artículo científico publicado en 1999

[Hereditary endocrine tumour diseases]

artículo científico publicado en 2005

[Information to families with hereditary breast and ovarian cancer]

scientific article published on 01 November 2001

[Prophylactic thyroidectomy in carriers of RET oncogene mutation carriers]

artículo científico publicado en 2000

[Screening for ovarian cancer]

artículo científico publicado en 2000

[Treatment of spinal cord compression caused by malignant disease]

artículo científico publicado en 1991

Lista de obras de Ketil R Heimdal

15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ⬇️

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

A segregation analysis of testicular cancer based on Norwegian and Swedish families

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

Abnormally wide eustachian tubes involving the sphenoid bone: A collection

Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome ⬇️

Association studies of a polymorphism in the Wilms' tumor 1 locus in Norwegian patients with testicular cancer

Association studies of estrogen receptor polymorphisms in a Norwegian testicular cancer population.

BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations

BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family

Causes of hearing impairment in the Norwegian paediatric cochlear implant program

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

Clinical and biochemical long-term toxicity after postoperative cisplatin-based chemotherapy in patients with low-stage testicular cancer

Clinical implications of BRCA1 genetic testing

Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.

Costs and benefits of diagnosing familial breast cancer

DNA ploidy in primary testicular cancer

Efficacy of early diagnosis and treatment in women with a family history of breast cancer. European Familial Breast Cancer Collaborative Group.

Familial testicular cancer in Norway and southern Sweden

Frequent loss of 11p13 and 11p15 loci in male germ cell tumours

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Genetic epidemiology of BRCA1 mutations in Norway

Genetic factors in malignant germ-cell tumors

Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history

Germline PTEN mutations are rare and highly penetrant

Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

High resolution chromosome banding in search of germ line mutations applied on testicular cancer patients

Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

Increasing incidence and changing stage distribution of testicular carcinoma in Norway 1970-1987

Inherited breast carcinoma--prospective findings in 1,194 women at risk

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis

Inherited predisposition to breast carcinoma. Results of first round examination of 537 women at risk

Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance

Karyotyping of a hematologic neoplasia developing shortly after treatment for cerebral extragonadal germ cell tumor

Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment.

Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study

Long-term experience with intranasal bevacizumab therapy

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Mutation-Specific Survival of Inherited Breast Cancer

National registries of rare diseases in Europe: an overview of the current situation and experiences

No evidence for constitutional chromosome instability in testicular cancer

No germline TP53 mutations detected in familial and bilateral testicular cancer

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

Obstructive sleep apnea in Treacher Collins syndrome.

Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility

Oral contraceptives and risk of familial breast cancer

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report

Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review ⬇️

Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer

Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis

Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Prognostic significance of TP53 alterations in breast carcinoma

Prospectively detected cancer in familial breast/ovarian cancer screening

Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer

Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations

Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation

Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study

Rare Ha-ras1 alleles and predisposition to testicular cancer

Regression analyses of prognostic factors in metastatic malignant melanoma

Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein

Risk of cancer in relatives of testicular cancer patients.

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity