Lista de obras - Lone Sunde - Dominio Público Uruguay

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

artículo científico publicado en 2016

A 30-year experience in using oral methotrexate as initial treatment for gestational trophoblastic neoplasia regardless of risk group.

artículo científico publicado en 2015

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

artículo científico publicado en 2010

A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans

artículo científico publicado en 2017

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

artículo científico publicado en 2013

A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A major imprinted gene involved in hydatidiform mole is not located in 2q31.2-qter or 5q34-qter

article

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

artículo científico publicado en 2014

Altered cleavage patterns in human tripronuclear embryos and their association to fertilization method: a time-lapse study.

artículo científico publicado en 2014

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

scientific article published on 17 June 2019

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.

artículo científico publicado en 2015

Barth syndrome without 3-methylglutaconic aciduria.

artículo científico publicado en 2004

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

artículo científico publicado en 2011

Breast cancer after bilateral risk-reducing mastectomy

artículo científico publicado en 2011

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

artículo científico publicado en 2015

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

artículo científico publicado en 2017

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

artículo científico publicado en 2016

Chondrosarcoma. Increasing grade of malignancy in local recurrence

scientific article published on 01 March 1986

Choroid plexus hyperplasia and chromosome 9p gains

artículo científico publicado en 2018

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2017

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Comparison of three methods of microsatellite detection

artículo científico publicado en 1999

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

artículo científico publicado en 2020

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Differences in current clinical features of diploid and triploid hydatidiform mole.

artículo científico publicado en 2007

Disease pattern in Danish patients with Peutz-Jeghers syndrome.

artículo científico publicado en 2016

Does Fetal antigen 1 (FA1) identify cells with regenerative, endocrine and neuroendocrine potentials? A study of FA1 in embryonic, fetal, and placental tissue and in maternal circulation

artículo científico publicado en 2000

Does plasminogen activator inhibitor-1 (PAI-1) control trophoblast invasion? A study of fetal and maternal tissue in intrauterine, tubal and molar pregnancies.

artículo científico publicado en 2000

Dormancy and activation of human oocytes from primordial and primary follicles: molecular clues to oocyte regulation.

artículo científico

Evaluation of the learning outcome in clinical rotations

artículo científico publicado el 13 de febrero de 2012

Evaluation of the risk of persistent trophoblastic disease after twin pregnancy with diploid hydatidiform mole and coexisting normal fetus

scientific article published on 01 July 2007

Ewing's sarcoma. A retrospective study of prognostic factors and treatment results

scientific article published on 01 January 1987

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases

artículo científico publicado en 2013

Familial colorectal cancer risk may be lower than previously thought: a Danish cohort study

artículo científico publicado en 2015

Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? – A case-control study

artículo científico publicado en 2009

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

artículo científico publicado en 2009

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

artículo científico publicado en 1993

Genetically different cell subpopulations in hydatidiform moles. A study of three cases by RFLP, flow cytometric, cytogenetic, HLA, and morphologic analyses

artículo científico publicado en 1989

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

artículo científico publicado en 2009

Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling

artículo científico publicado en 2015

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

artículo científico publicado en 2007

Hydatidiform mole and fetus with normal karyotype: support of a separate entity

artículo científico publicado en 1991

Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood

scientific article published on 11 December 2020

Hydatidiform mole: validity of the registration in the Danish National Patient Registry, the Danish Cancer Registry, and the Danish Pathology Registry 1999-2009

scholarly article by Helle Lund et al published 2018 in Clinical Epidemiology

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

artículo científico publicado en 2012

Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases

artículo científico publicado en 2015

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

artículo científico publicado en 2016

Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections

artículo científico publicado en 2017

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

artículo científico publicado en 2010

Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations: a nationwide prevalence study

artículo científico publicado en 2016

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study.

artículo científico publicado en 2011

Localization and significance of urokinase plasminogen activator and its receptor in placental tissue from intrauterine, ectopic and molar pregnancies.

artículo científico publicado en 1999

Localization of E-cadherin in villous, extravillous and vascular trophoblasts during intrauterine, ectopic and molar pregnancy

scientific article published on 01 October 2000

MSH6 Mutations are Frequent in Hereditary Nonpolyposis Colorectal Cancer Families With Normal pMSH6 Expression as Detected by Immunohistochemistry

article

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

artículo científico

Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32

scientific article published on 01 September 2005

Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy.

artículo científico publicado en 2013

Microdissection of chromosome 2--between-arm intrachromosomal insertion.

artículo científico

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

artículo científico publicado en 2009

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

artículo científico publicado en 2015

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221

artículo científico publicado en 2012

Mosaics and moles

artículo científico publicado en 2011

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

artículo científico publicado en 2015

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

article

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

artículo científico publicado en 2013

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

artículo científico publicado en 2005

Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports

artículo científico publicado en 2015

Placental vascular malformation with mesenchymal hyperplasia and a localized chorioangioma. A rarity simulating partial mole

scientific article published on 01 September 1994

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

artículo científico publicado en 2006

Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model

scientific article published on 01 October 2019

Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry

artículo científico publicado en 2016

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Predictors of low risk of persistent trophoblastic disease in molar pregnancies

scientific article published on 01 May 2006

Pregnancy zone protein: a re-evaluation of serum levels in healthy women and in women suffering from breast cancer or trophoblastic disease ⬇️

artículo científico publicado el 1 de septiembre de 1990

Prevalence of corneal dystrophies in the United States: estimates from claims data

artículo científico publicado en 2013

Prognosis for pregnancies with trisomy 16 confined to the placenta: a Danish cohort study

artículo científico publicado en 2018

Psychosocial Conditions of Women Awaiting Genetic Counseling: A Population-based Study

artículo científico publicado en 2008

Psychosocial consequences of genetic counseling: a population-based follow-up study

artículo científico publicado en 2008

Recent advances in Lynch syndrome

artículo científico publicado en 2020

Risk perception among women receiving genetic counseling: A population-based follow-up study

artículo científico publicado en 2007

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2020

Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

artículo científico publicado en 2010

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

artículo científico publicado en 2014

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

scientific article published on 14 October 2019

Survival in familial colorectal cancer: a Danish cohort study

artículo científico publicado en 2015

Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

artículo científico publicado en 2017

Tetraploidy in hydatidiform moles

artículo científico publicado en 2013

The parental origin correlates with the karyotype of human embryos developing from tripronuclear zygotes

artículo científico publicado en 2015

The pivotal roles of the NOD-like receptors with a PYD domain, NLRPs, in oocytes and early embryo development†

scientific article published on 01 August 2019

The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome.

artículo científico publicado en 2008

The risk of persistent trophoblastic disease after hydatidiform mole classified by morphology and ploidy

artículo científico publicado en 2006

Triploid pregnancies: genetic and clinical features of 158 cases

artículo científico

Triploidy--Observations in 154 Diandric Cases

artículo científico publicado en 2015

Twin pregnancies with diploid hydatidiform mole and co-existing normal fetus may originate from one oocyte

artículo científico publicado en 2008

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition

artículo científico publicado en 2013

[Diagnosis, monitoring and treatment of tuberous sclerosis complex] ⬇️

artículo científico publicado en 2019

[Familial colorectal cancer].

artículo científico publicado en 2006

[Head and neck paragangliomas] ⬇️

artículo científico publicado en 2014

[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool] ⬇️

scientific article published on 01 January 2014

[Recurrent diploid biparental mole] ⬇️

scientific article published on 01 August 2019

p57 in Hydatidiform Moles: Evaluation of Antibodies and Expression in Various Cell Types

scientific article published on 18 September 2019

Lista de obras de Lone Sunde

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

A 30-year experience in using oral methotrexate as initial treatment for gestational trophoblastic neoplasia regardless of risk group.

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

A major imprinted gene involved in hydatidiform mole is not located in 2q31.2-qter or 5q34-qter

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Altered cleavage patterns in human tripronuclear embryos and their association to fertilization method: a time-lapse study.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.

Barth syndrome without 3-methylglutaconic aciduria.

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

Breast cancer after bilateral risk-reducing mastectomy

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

Chondrosarcoma. Increasing grade of malignancy in local recurrence

Choroid plexus hyperplasia and chromosome 9p gains

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Comparison of three methods of microsatellite detection

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Differences in current clinical features of diploid and triploid hydatidiform mole.

Disease pattern in Danish patients with Peutz-Jeghers syndrome.

Does Fetal antigen 1 (FA1) identify cells with regenerative, endocrine and neuroendocrine potentials? A study of FA1 in embryonic, fetal, and placental tissue and in maternal circulation

Does plasminogen activator inhibitor-1 (PAI-1) control trophoblast invasion? A study of fetal and maternal tissue in intrauterine, tubal and molar pregnancies.

Dormancy and activation of human oocytes from primordial and primary follicles: molecular clues to oocyte regulation.

Evaluation of the learning outcome in clinical rotations

Evaluation of the risk of persistent trophoblastic disease after twin pregnancy with diploid hydatidiform mole and coexisting normal fetus

Ewing's sarcoma. A retrospective study of prognostic factors and treatment results

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases

Familial colorectal cancer risk may be lower than previously thought: a Danish cohort study

Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? – A case-control study

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

Genetically different cell subpopulations in hydatidiform moles. A study of three cases by RFLP, flow cytometric, cytogenetic, HLA, and morphologic analyses

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

Hydatidiform mole and fetus with normal karyotype: support of a separate entity

Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood

Hydatidiform mole: validity of the registration in the Danish National Patient Registry, the Danish Cancer Registry, and the Danish Pathology Registry 1999-2009

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations: a nationwide prevalence study

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study.

Localization and significance of urokinase plasminogen activator and its receptor in placental tissue from intrauterine, ectopic and molar pregnancies.

Localization of E-cadherin in villous, extravillous and vascular trophoblasts during intrauterine, ectopic and molar pregnancy

MSH6 Mutations are Frequent in Hereditary Nonpolyposis Colorectal Cancer Families With Normal pMSH6 Expression as Detected by Immunohistochemistry

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32

Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy.

Microdissection of chromosome 2--between-arm intrachromosomal insertion.

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221

Mosaics and moles

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports

Placental vascular malformation with mesenchymal hyperplasia and a localized chorioangioma. A rarity simulating partial mole

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model

Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores