Lista de obras - Ingrid Winship - Dominio Público Uruguay

A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family

article

A PALB2 mutation associated with high risk of breast cancer

artículo científico publicado en 2010

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

artículo científico publicado en 2016

A funding model for public-good clinical trials.

artículo científico publicado en 2013

A photographic essay of prolidase deficiency ⬇️

artículo científico publicado el 1 de octubre de 2011

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family

artículo científico publicado en 1994

Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers

artículo científico publicado en 2016

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

scientific article published on 17 June 2019

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.

artículo científico publicado en 2006

Antioxidant effect of warfarin therapy: a possible symptomatic treatment for erythropoietic protoporphyria

artículo científico publicado en 2009

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

artículo científico publicado en 2013

Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

artículo científico publicado en 2010

Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome

artículo científico publicado en 2015

Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study

artículo científico publicado en 2018

Asthma phenotypes in Niue Islanders

artículo científico publicado en 2004

Author reply

scientific article published on 01 October 2014

Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed

article

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

artículo científico publicado en 2005

Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features

artículo científico publicado en 2005

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

artículo científico publicado en 2011

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

artículo científico publicado en 2011

Boomerang dysplasia

Cancer Risks for PMS2-Associated Lynch Syndrome

artículo científico publicado en 2018

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

Caregivers' information needs and their 'experiences of care' during treatment are associated with elevated anxiety and depression: a cross-sectional study of the caregivers of renal cancer survivors

artículo científico publicado en 2016

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

artículo científico publicado en 2001

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

artículo científico publicado en 2013

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing

artículo científico publicado en 2012

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

artículo científico publicado en 2012

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

artículo científico publicado en 2012

Consent Processes for Mobile App Mediated Research: Systematic Review

artículo científico

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

Correction: Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22.

artículo científico publicado en 2012

Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori.

artículo científico publicado en 2007

DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer.

artículo científico publicado en 2000

Deficiency in complement factor B.

artículo científico publicado en 2013

Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome

artículo científico publicado en 2014

FSH receptor gene variants are rarely associated with premature ovarian failure.

artículo científico publicado en 2013

False-positive diagnosis of trisomy 21 using fluorescencein situ hybridisation (FISH) on uncultured amniotic fluid cells

scientific article published on 01 April 2003

Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma

artículo científico publicado en 2013

Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

scientific article published on 17 July 2007

Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes

artículo científico publicado en 2013

Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases

artículo científico publicado en 2013

Family history-based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios

article

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

artículo científico publicado en 2015

Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome.

artículo científico publicado en 2015

Fertility and apparent genetic anticipation in Lynch syndrome

artículo científico publicado en 2014

Fertility management after breast cancer diagnosis: a qualitative investigation of women's experiences of and recommendations for professional care

artículo científico publicado en 2013

Further case report of a child with a 9q34 deletion and a review of the reported cases

article

Gene panel testing for hereditary breast cancer

article

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome

artículo científico publicado en 2015

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

artículo científico publicado en 2017

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

artículo científico publicado en 2016

Halo naevi and café au lait macule regression in a renal transplant patient on immunosuppression

artículo científico publicado en 2014

Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features

artículo científico publicado en 2014

Hereditary renal cell carcinoma: the clue can be in the skin

artículo científico publicado en 2009

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

artículo científico publicado en 2022

Hierarchical mutation screening protocol for the BRCA1 gene

scientific article published on 01 November 2000

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

artículo científico publicado en 2014

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

artículo científico publicado en 2010

Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.

artículo científico publicado en 2006

INHA promoter polymorphisms are associated with premature ovarian failure

artículo científico publicado en 2005

Immunohistochemistry to Detect Hereditary Nonpolyposis Colorectal Cancer in Young Patients: the 7-Year Auckland Experience

artículo científico publicado en 2011

Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation

artículo científico publicado en 2015

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

artículo científico publicado en 2014

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

artículo científico

Interpretation of genomic variation and disease association: the great missense mutation challenge!

artículo científico publicado en 2015

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

artículo científico publicado en 2018

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

artículo científico publicado en 2015

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

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

artículo científico publicado en 2016

Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy

scientific article published on 31 March 2019

Lynch syndrome and cervical cancer

artículo científico publicado en 2015

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.

artículo científico publicado en 2014

Melanoma(s) arising in large segmental speckled lentiginous nevi: A case series

article

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

artículo científico publicado en 2010

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

artículo científico publicado en 2020

Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis

artículo científico publicado en 1997

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.

artículo científico publicado en 2011

Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.

artículo científico publicado en 2017

Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.

artículo científico publicado en 2015

Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome

artículo científico publicado en 2016

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

artículo científico publicado en 2017

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

artículo científico publicado en 2015

Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure.

artículo científico publicado en 2006

Neurosurgical considerations in von Hippel-Lindau disease.

scientific article published on 06 January 2011

Novel germlineCDH1mutations in hereditary diffuse gastric cancer families

article

Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

artículo científico publicado en 2000

Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication

artículo científico publicado en 2015

PALB2 and breast cancer: ready for clinical translation!

artículo científico publicado en 2013

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

artículo científico publicado en 2016

PALB2: research reaching to clinical outcomes for women with breast cancer

artículo científico publicado en 2016

Phenotype in novel Xp duplication

artículo científico publicado en 2012

Polymorphism in intron 1 of the interferon-gamma gene influences both serum immunoglobulin E levels and the risk for chronic hepatitis B virus infection in Polynesians

artículo científico publicado en 2007

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

artículo científico publicado en 2010

Precision medicine: are we there?

artículo científico publicado en 2015

Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor

artículo científico publicado en 2013

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

artículo científico publicado en 2013

Primary oxalosis-an unusual cause of livedo reticularis

scientific article published on 01 September 1991

Profound childhood deafness in southern Africa

artículo científico publicado en 1991

Randomized controlled trial of a telephone-based peer-support program for women carrying a BRCA1 or BRCA2 mutation: impact on psychological distress

artículo científico publicado en 2014

Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication.

artículo científico publicado en 2014

Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.

artículo científico publicado en 2014

Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4

artículo científico publicado en 2011

Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex

artículo científico publicado en 2016

Renal tumors associated with germline SDHB mutation show distinctive morphology.

artículo científico publicado en 2011

Risk factors for metachronous colorectal cancer following a primary colorectal cancer: A prospective cohort study.

artículo científico publicado en 2016

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

artículo científico publicado en 2014

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

artículo científico publicado en 2015

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

artículo científico publicado en 2016

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

scientific article published on 18 July 2020

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

Risks of Lynch syndrome cancers for MSH6 mutation carriers

artículo científico publicado en 2009

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome

artículo científico publicado en 2013

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

artículo científico publicado en 2012

SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer.

artículo científico publicado en 2016

Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancer

artículo científico publicado en 2012

Screening practices of unaffected people at familial risk of colorectal cancer

artículo científico publicado en 2011

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

artículo científico publicado en 2014

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

artículo científico publicado en 2017

Succinate dehydrogenase deficiency is rare in pituitary adenomas

artículo científico publicado en 2014

Sudden unexpected death, epilepsy and familial cardiac pathology.

artículo científico publicado en 2015

Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

artículo científico publicado en 2002

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

scientific article published on 14 October 2019

Systematic review of quality improvement interventions directed at cancer specialists

artículo científico publicado en 2013

The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program

artículo científico publicado en 2020

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

artículo científico publicado en 2008

The course of anxiety, depression and unmet needs in survivors of diffuse large B cell lymphoma and multiple myeloma in the early survivorship period

artículo científico publicado en 2017

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study ⬇️

scientific article published on 03 January 2019

The role of STK 11 gene testing in individuals with oral pigmentation.

artículo científico publicado en 2016

The utility of genetics in inherited cancer

artículo científico publicado en 2013

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Tumour morphology predicts PALB2 germline mutation status

artículo científico publicado en 2013

Unmet support needs and distress among women with a BRCA1/2 mutation

artículo científico publicado en 2013

Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers.

artículo científico publicado en 2012

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

artículo científico

Women's reflections on fertility and motherhood after breast cancer and its treatment

article

X-linked inheritance of ocular albinism with late-onset sensorineural deafness

artículo científico publicado en 1984

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

artículo científico publicado en 1999

X-linked recessive polyfibromatosis manifesting with spontaneous keloid scars and Dupuytren's contracture

artículo científico publicado en 2011

Lista de obras de Ingrid Winship

A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family

A PALB2 mutation associated with high risk of breast cancer

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

A funding model for public-good clinical trials.

A photographic essay of prolidase deficiency ⬇️

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family

Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers

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

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.

Antioxidant effect of warfarin therapy: a possible symptomatic treatment for erythropoietic protoporphyria

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome

Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study

Asthma phenotypes in Niue Islanders

Author reply

Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

Boomerang dysplasia

Cancer Risks for PMS2-Associated Lynch Syndrome

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

Caregivers' information needs and their 'experiences of care' during treatment are associated with elevated anxiety and depression: a cross-sectional study of the caregivers of renal cancer survivors

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

Consent Processes for Mobile App Mediated Research: Systematic Review

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

Correction: Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22.

Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori.

DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer.

Deficiency in complement factor B.

Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome

FSH receptor gene variants are rarely associated with premature ovarian failure.

False-positive diagnosis of trisomy 21 using fluorescencein situ hybridisation (FISH) on uncultured amniotic fluid cells

Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma

Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes

Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases

Family history-based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome.

Fertility and apparent genetic anticipation in Lynch syndrome

Fertility management after breast cancer diagnosis: a qualitative investigation of women's experiences of and recommendations for professional care

Further case report of a child with a 9q34 deletion and a review of the reported cases

Gene panel testing for hereditary breast cancer

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Halo naevi and café au lait macule regression in a renal transplant patient on immunosuppression

Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features

Hereditary renal cell carcinoma: the clue can be in the skin

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

Hierarchical mutation screening protocol for the BRCA1 gene

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.

INHA promoter polymorphisms are associated with premature ovarian failure

Immunohistochemistry to Detect Hereditary Nonpolyposis Colorectal Cancer in Young Patients: the 7-Year Auckland Experience

Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Interpretation of genomic variation and disease association: the great missense mutation challenge!

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

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

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy

Lynch syndrome and cervical cancer

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.

Melanoma(s) arising in large segmental speckled lentiginous nevi: A case series

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.