List of works by Elke Holinski-Feder

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

scientific article published in February 2005

A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients

scientific article published on 01 May 2007

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum

scientific article published on 8 September 2009

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

scientific article published on 29 August 2013

Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer

scientific article published on 01 May 2006

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

scientific article published on 17 August 2016

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

scholarly article by Ulrike Schara et al published 10 December 2010 in Journal of Inherited Metabolic Disease

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

scientific article

Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

scientific article published on 01 September 2020

An American founder mutation in MLH1.

scientific article published on 30 August 2011

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study

scientific article published on 01 August 2005

Association between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian origin

scientific article (publication date: 2011)

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

scientific article published on 08 January 2020

Beta2-microglobulin mutations in microsatellite unstable colorectal tumors

scientific article published on 01 July 2007

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

scientific article published on 28 June 2011

Biallelic MUTYH mutations can mimic Lynch syndrome

scientific article

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

scientific article published on 9 December 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

scientific article published on 28 July 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

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

scientific article published on 24 May 2020

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred

scientific article

Clinical and neuropathological findings in patients with TACO1 mutations

scientific article published on 19 August 2010

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

scientific article published on 10 October 2017

Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.

scientific article published on 22 February 2018

Correction: 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 20 July 2020

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes

scientific article published on 12 February 2020

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

scientific article published on 8 March 2011

Deciphering the genetics of hereditary non-syndromic colorectal cancer

scientific article published on 16 July 2008

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

scientific article

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

scientific article published on 16 July 2011

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families

scientific article published on 01 January 2005

Disease-causing gene-flanking genomic rearrangements in HNPCC patients

scientific article published on 10 March 2011

Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR

scientific article published on 01 June 2007

ERN GENTURIS – Europäisches Referenznetzwerk für erbliche Tumorerkrankungen

scholarly article published in 2017

Easy, accurate and reliable screening for SNPs by ion pair/reverse phase HPLC: simultaneous detection of factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase C677T variants

scientific article published in January 2003

Economic evaluation of genetic screening for Lynch syndrome in Germany.

scientific article published on 8 January 2015

Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer

scientific article published on 14 October 2009

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue

scientific article published in March 2004

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

scientific article published on 2 June 2017

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families

article

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

scientific article published on 27 July 2016

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

scientific article published on 16 January 2016

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

scientific article

Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome

article

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

scientific article published on 30 December 2010

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

scientific article published on 20 January 2015

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes

scientific article published on 22 July 2019

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

scientific article published in August 2005

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

scientific article published on 27 February 2008

Genetic Screening and Personalized Prevention in Colorectal Cancer

scientific article published on 17 July 2019

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

scientific article

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

scientific article published on 30 September 2014

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

scientific article published on 14 October 2013

Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.

scientific article

Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.

scientific article published on 14 August 2006

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing

scientific article published on 22 January 2019

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

scientific article published on 29 December 2017

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

scientific article published in March 2009

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

scientific article

Identification of genetic variants for clinical management of familial colorectal tumors.

scientific article published on 20 February 2018

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

scientific article published on 16 February 2009

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

scientific article published on 3 May 2012

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

scientific article published on 3 June 2016

Intrafamilial variability in fragile X-associated tremor/ataxia syndrome

scientific article published in January 2006

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

Laminopathy presenting as familial atrial fibrillation

scientific article published on 15 May 2010

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

scientific article

Leiden Open Variation Database of the MUTYH gene

scientific article

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

scientific article published on 14 February 2017

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

scientific article published on 20 May 2017

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

scientific article published on 27 November 2015

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium

scientific article published on 13 October 2004

MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation

scientific article published on 01 January 2002

MethyQESD, a robust and fast method for quantitative methylation analyses in HNPCC diagnostics using formalin-fixed and paraffin-embedded tissue samples

scientific article published on 20 October 2008

Microsatellite instability in pediatric and adult high-grade gliomas

scientific article published in April 2007

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

scientific article published in June 2011

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

scientific article published on 08 November 2018

Mitochondrial dysfunction in liver failure requiring transplantation

scientific article

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

scientific article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden

scientific article published in April 2004

Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors

article

N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC).

scientific article published on 6 December 2005

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

scientific article published on 18 November 2012

No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies

scientific article published on 29 July 2018

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study

scientific article

Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer

scientific article published on 01 January 2006

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

scientific article published on 17 December 2010

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

scientific article published on 22 August 2006

Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications

scientific article

Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study

scientific article

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

scientific article published on 12 June 2017

Preoperative serum levels of the carcinoembryonic antigen in hereditary non-polyposis colorectal cancer compared to levels in sporadic colorectal cancer.

scientific article

Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics

scientific article published on 01 April 2020

Primary mucinous adenocarcinoma of the vermiform appendix with high grade microsatellite instability

scientific article published on 23 May 2011

Problems in detecting mosaic DNA methylation in Angelman syndrome

scientific article published on 01 December 2003

Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T.

scientific article published on January 2010

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

scientific article published in March 2011

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.

scientific article

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

scientific article published on 06 December 2019

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

scientific article published on 8 December 2010

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

scientific article published on 01 December 2020

Risks of less common cancers in proven mutation carriers with lynch syndrome

scientific article published on 22 October 2012

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome

scientific article

Single cell analysis of mutations in the APC gene

scientific article

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

scientific article published on 01 September 2005

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

scientific article published on 14 October 2019

Syndrome mit breitem Tumorspektrum

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

scientific article

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome

scientific article published on 10 December 2019

Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families

article

The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance

scientific article published on 19 July 2020

The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1

scientific article published on 16 January 2007

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

scientific article

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

scientific article published on 30 June 2008

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

scientific article

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

scientific article published in July 2014

Value of upper GI endoscopy for gastric cancer surveillance in patients with Lynch syndrome

scientific article published on 15 September 2020

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

scientific article

[18F]Fluorodeoxyglucose positron emission tomography/computed tomography-positive gastric adenocarcinoma in a 12-year-old girl with Peutz-Jeghers syndrome.

scientific article

[Colorectal cancer prevention and early detection: what is the best strategy?]

scientific article published on 01 April 2019

[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients]

scientific article published on 18 November 2019

Paulina is supported by:

About Paulina

Help