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Lista de obras de Eamonn R Maher

15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations

artículo científico

A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma ⬇️

artículo científico publicado el 10 de mayo de 2013

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery

artículo científico publicado en 2017

A clinical and genetic analysis of multiple primary cancer referrals to genetics services

artículo científico publicado en 2014

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

artículo científico publicado en 2013

A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect

artículo científico publicado en 2014

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

artículo científico publicado en 2014

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancers

artículo científico publicado en 2010

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

artículo científico publicado en 2005

A legacy of tinnitus: multiple head and neck paragangliomas

artículo científico publicado en 2009

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

artículo científico publicado en 2010

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

artículo científico publicado en 2014

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

artículo científico publicado en 2009

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

artículo científico publicado en 2002

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

artículo científico publicado en 2012

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

artículo científico publicado en 2011

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders

artículo científico publicado en 2020

A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma

artículo científico publicado en 2020

A survey of assisted reproductive technology births and imprinting disorders.

artículo científico publicado en 2007

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

artículo científico publicado en 2014

A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect

artículo científico publicado en 2014

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

artículo científico publicado en 2014

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

artículo científico publicado en 2012

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype

artículo científico publicado en 2003

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

scientific article published on 01 September 2014

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

artículo científico publicado en 2009

An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease ⬇️

artículo científico publicado el 30 de julio de 2012

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma

artículo científico publicado en 2009

Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma

artículo científico publicado en 2009

Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas.

artículo científico publicado en 2001

Assisted reproductive therapies and imprinting disorders--a preliminary British survey

artículo científico publicado en 2005

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

artículo científico publicado en 2003

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

artículo científico publicado en 2006

BAC chromosomal microarray for prenatal detection of chromosome anomalies in fetal ultrasound anomalies: an economic evaluation

artículo científico publicado en 2014

Bayesian approach to determining penetrance of pathogenic SDH variants

scientific article published on 10 September 2018

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study

artículo científico publicado en 2008

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

article

Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer

artículo científico publicado en 2008

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

artículo científico publicado en 2006

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

artículo científico publicado en 2011

Birt-Hogg-Dubé syndrome: diagnosis and management

artículo científico publicado en 2009

CDKN1C mutations: two sides of the same coin.

artículo científico

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

artículo científico publicado en 2012

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

artículo científico publicado en 2017

Canadian guideline on genetic screening for hereditary renal cell cancers

artículo científico publicado en 2013

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

artículo científico publicado en 2010

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

artículo científico publicado en 2011

Cargos and genes: insights into vesicular transport from inherited human disease

artículo científico publicado en 2007

Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients

artículo científico publicado en 2010

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

artículo científico publicado en 2016

Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report

artículo científico publicado en 2010

Characterization of a 3;6 translocation associated with renal cell carcinoma.

artículo científico publicado en 2007

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

artículo científico publicado en 2015

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing

artículo científico publicado en 2020

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

artículo científico publicado en 2011

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

scientific article published on 29 January 2019

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

artículo científico publicado en 2017

Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease

artículo científico publicado en 2000

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

artículo científico publicado en 2010

Clinical and molecular genetic features of ARC syndrome

artículo científico publicado en 2006

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers

artículo científico publicado en 2008

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

artículo científico publicado en 2013

Clinical utility gene card for: von Hippel-Lindau (VHL).

artículo científico publicado en 2013

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

artículo científico publicado en 2013

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

artículo científico publicado en 2005

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

artículo científico publicado en 2013

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

article

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

artículo científico publicado en 2016

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

artículo científico publicado en 2015

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

artículo científico publicado en 2016

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

artículo científico publicado en 2008

Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)

scientific article published on 11 September 2020

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

artículo científico publicado en 2009

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Copy number profiling in von Hippel-Lindau disease renal cell carcinoma

artículo científico publicado en 2011

Cover Image, Volume 173A, Number 7, July 2017

CpG island promoter hypermethylation of a novel Ras-effector gene RASSF2A is an early event in colon carcinogenesis and correlates inversely with K-ras mutations.

artículo científico publicado en 2005

CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma.

scientific article published on 03 June 2009

DNA methylation profiles of long- and short-term glioblastoma survivors

artículo científico publicado en 2013

DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma.

artículo científico publicado en 2013

Deciphering the genetics of hereditary non-syndromic colorectal cancer

artículo científico publicado en 2008

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

artículo científico publicado en 2016

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Depletion of the Ras Association Domain Family 1, Isoform A-Associated Novel Microtubule-Associated Protein, C19ORF5/MAP1S, Causes Mitotic Abnormalities

scientific article published on 01 January 2007

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

artículo científico publicado en 2010

Detection of RASSF1A aberrant promoter hypermethylation in sputum from chronic smokers and ductal carcinoma in situ from breast cancer patients

artículo científico publicado en 2003

Diagnosis and Management of Hereditary Renal Cell Cancer

artículo científico publicado en 2016

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

scientific article published on 01 February 2008

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

scientific article published on 04 March 2019

Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion

artículo científico publicado en 2020

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

artículo científico publicado en 2008

Endometriosis and the neoplastic process

artículo científico publicado en 2004

Ensuring that COVID-19 research is inclusive: guidance from the NIHR INCLUDE project

artículo científico publicado en 2020

Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour

artículo científico publicado en 2005

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

artículo científico publicado en 2005

Epigenetic analysis of childhood acute lymphoblastic leukemia.

artículo científico publicado en 2009

Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers.

artículo científico publicado en 2004

Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis ⬇️

artículo científico publicado el 18 de octubre de 2010

Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.

artículo científico publicado en 2003

Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?

artículo científico publicado en 2003

Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics ⬇️

artículo científico publicado el 3 de septiembre de 2010

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

artículo científico publicado en 2013

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

artículo científico publicado en 2016

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

artículo científico publicado en 2016

Erratum: Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

artículo científico publicado en 2011

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scholarly article published in Nature Genetics

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

artículo científico publicado en 2017

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

article

Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma

artículo científico publicado en 2008

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan

article

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan

article

Evidence of Linkage to Chromosome 9q22.33 in Colorectal Cancer Kindreds from the United Kingdom

article

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>

artículo científico publicado en 2021

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation

artículo científico publicado en 2020

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

artículo científico publicado en 2014

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

artículo científico publicado en 2018

Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis

artículo científico publicado en 2016

Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations

artículo científico publicado en 2006

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights

artículo científico publicado en 2019

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN

artículo científico publicado en 2008

Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG

scientific article published on 01 April 2004

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

artículo científico publicado en 2012

Formation of dimethylketene and methacrolein by reaction of the CH radical with acetone.

artículo científico publicado en 2013

Frequent RASSF1A tumour suppressor gene promoter methylation in Wilms' tumour and colorectal cancer

article

Frequent epigenetic inactivation of KIBRA, an upstream member of the Salvador/Warts/Hippo (SWH) tumor suppressor network, is associated with specific genetic event in B-cell acute lymphocytic leukemia.

artículo científico publicado en 2011

Frequent epigenetic inactivation of RASSF1A and BLU genes located within the critical 3p21.3 region in gliomas.

artículo científico publicado en 2004

Frequent epigenetic inactivation of the RASSF1A tumour suppressor gene in testicular tumours and distinct methylation profiles of seminoma and nonseminoma testicular germ cell tumours.

artículo científico publicado en 2003

Frequent epigenetic inactivation of the SLIT2 gene in chronic and acute lymphocytic leukemia

artículo científico publicado en 2009

Frequent epigenetic inactivation of the SLIT2 gene in gliomas

artículo científico publicado en 2003

Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans

scientific article published on 21 October 2019

Functional epigenetic approach identifies frequently methylated genes in Ewing sarcoma.

artículo científico publicado en 2013

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

artículo científico publicado en 2011

Gene expression and protein array studies of folliculin-regulated pathways

artículo científico publicado en 2012

Genes, assisted reproductive technology and trans-illumination

artículo científico

Genetic Stratification of Inherited and Sporadic Phaeochromocytoma and Paraganglioma: Implications for Precision Medicine

artículo científico publicado en 2020

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

artículo científico publicado en 2003

Genetic and epigenetic analysis of recurrent hydatidiform mole

artículo científico publicado en 2009

Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer

artículo científico publicado en 2006

Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma

artículo científico publicado en 2012

Genetics of Familial Renal Cancers ⬇️

artículo científico publicado el 11 de noviembre de 2010

Genetics of phaeochromocytoma.

artículo científico publicado en 2006

Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma.

artículo científico publicado en 2012

Genome-wide DNA methylation profiling of CpG islands in breast cancer identifies novel genes associated with tumorigenicity.

artículo científico publicado en 2011

Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma

article

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

scientific article published on 01 April 2019

Genomic organization and chromosomal localization of the humanCUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development

artículo científico publicado en 1999

Genomics and epigenomics of renal cell carcinoma ⬇️

artículo científico publicado el 28 de junio de 2012

Genotype-phenotype correlations in VHL exon deletions

artículo científico publicado en 2009

Genotype-phenotype correlations in von Hippel-Lindau disease.

artículo científico publicado en 2007

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

artículo científico publicado en 2005

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

artículo científico publicado en 2016

Germline FH mutations presenting with pheochromocytoma

artículo científico publicado en 2014

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

artículo científico publicado en 2015

Germline SDHB mutations and familial renal cell carcinoma.

artículo científico publicado en 2008

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

artículo científico publicado en 2009

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

artículo científico publicado en 2012

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

artículo científico publicado en 2014

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

artículo científico publicado en 2002

HIF2 and endocrine neoplasia: an evolving story ⬇️

artículo científico publicado el 30 de mayo de 2013

Health and population effects of rare gene knockouts in adult humans with related parents

artículo científico publicado en 2016

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals

scientific article published on 09 December 2019

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

artículo científico publicado en 2014

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

artículo científico publicado en 2018

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

artículo científico publicado en 2014

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders ⬇️

artículo científico publicado en 2004

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

artículo científico publicado en 2012

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

artículo científico publicado en 2018

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

artículo científico publicado en 2009

Housekeeping proteins: a preliminary study illustrating some limitations as useful references in protein expression studies.

artículo científico publicado en 2005

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

artículo científico publicado en 2017

Human imprinting syndromes.

artículo científico

Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer

artículo científico publicado en 2015

Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.

artículo científico publicado en 2002

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

artículo científico publicado en 2005

Identification of novel VHL target genes and relationship to hypoxic response pathways

artículo científico publicado en 2005

Identification of novel gene expression targets for the Ras association domain family 1 (RASSF1A) tumor suppressor gene in non-small cell lung cancer and neuroblastoma

artículo científico publicado en 2003

Identification of the E1A-regulated transcription factor p120 E4F as an interacting partner of the RASSF1A candidate tumor suppressor gene

artículo científico publicado en 2004

Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation

scientific article published on 01 September 2002

Imprinting and assisted reproductive technology.

artículo científico publicado en 2005

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

artículo científico publicado en 2015

In Vitro Selection of a Single-Stranded DNA Molecular Recognition Element against Clostridium difficile Toxin B and Sensitive Detection in Human Fecal Matter

artículo científico publicado en 2015

In vitro selection of a single-stranded DNA molecular recognition element for the pesticide malathion

artículo científico publicado en 2014

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

artículo científico publicado en 2011

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

artículo científico publicado en 2009

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers

artículo científico publicado en 2013

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

artículo científico publicado en 2008

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

scientific article published on 18 May 2009

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

artículo científico publicado en 2010

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.

artículo científico publicado en 2004

Involvement of the RASSF1A tumor suppressor gene in controlling cell migration

artículo científico publicado en 2005

KIBRAgene methylation is associated with unfavorable biological prognostic parameters in chronic lymphocytic leukemia

artículo científico publicado en 2012

Locus heterogeneity and Knobloch syndrome

artículo científico publicado el 1 de noviembre de 2010

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

artículo científico publicado en 2005

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

artículo científico publicado en 2011

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

artículo científico publicado en 2011

MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

artículo científico publicado en 2007

Meeting abstracts from the 64th British Thyroid Association Annual Meeting: Newcastle, UK. 13/05/2016.

artículo científico publicado en 2017

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

artículo científico publicado en 2010

MethylCal: Bayesian calibration of methylation levels

artículo científico publicado en 2019

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

artículo científico publicado en 2014

Methylation profiling and evaluation of demethylating therapy in renal cell carcinoma.

artículo científico publicado en 2013

Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

artículo científico publicado en 2009

Microarray comparative genomic hybridization in prenatal diagnosis: a review

artículo científico publicado en 2012

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation ⬇️

artículo científico publicado el 1 de enero de 2012

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome

artículo científico publicado en 2007

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

artículo científico publicado en 2018

Molecular genetic evidence that endometriosis is a precursor of ovarian cancer

scientific article published on 01 August 2006

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

artículo científico publicado en 2009

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma

artículo científico publicado en 2003

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

artículo científico publicado en 2015

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis

artículo científico publicado en 2010

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

artículo científico publicado en 2008

Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility

artículo científico publicado en 2010

Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma

article

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

artículo científico publicado en 2006

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

artículo científico publicado en 2011

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

artículo científico publicado en 2013

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

artículo científico publicado en 2010

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

artículo científico publicado en 2015

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

artículo científico publicado en 2010

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

artículo científico publicado en 2016

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

artículo científico publicado en 2010

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

artículo científico publicado en 2010

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

artículo científico publicado en 2004

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

artículo científico publicado en 2002

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

artículo científico publicado en 2006

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

artículo científico publicado en 2005

NORE1A, a homologue of RASSF1A tumour suppressor gene is inactivated in human cancers

artículo científico publicado en 2003

Nomenclature and definition in asymmetric regional body overgrowth.

artículo científico publicado en 2017

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

artículo científico publicado en 2010

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

artículo científico publicado en 2010

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

artículo científico publicado en 2010

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

artículo científico publicado en 2013

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death

artículo científico publicado en 2019

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

artículo científico publicado en 2015

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

artículo científico publicado en 2014

Oxidized HDL is a potent inducer of adipogenesis and causes activation of the Ang-II and 20-HETE systems in human obese females

artículo científico publicado en 2016

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

artículo científico publicado en 2006

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

artículo científico publicado en 2017

PMS2 mutations in childhood cancer

artículo científico publicado en 2006

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

artículo científico publicado en 2009

Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma

artículo científico publicado en 2002

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2006

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity

scientific article published on 23 August 2020

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family

artículo científico publicado en 2008

Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

artículo científico publicado en 2018

Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.

artículo científico publicado en 2013

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

artículo científico publicado en 2013

Phaeochromocytoma and paraganglioma: next-generation sequencing and evolving Mendelian syndromes

artículo científico publicado en 2014

Phaeochromocytoma, new genes and screening strategies

artículo científico publicado en 2006

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

artículo científico publicado en 2006

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

artículo científico publicado en 2016

Pheochromocytoma

artículo científico publicado en 2012

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

artículo científico publicado en 2010

Photo-responsive self-assembly of an azobenzene-ended surfactant-encapsulated polyoxometalate complex for modulating catalytic reactions

artículo científico publicado en 2012

Population-based survey of cancer risks in chromosome 3 translocation carriers.

artículo científico publicado en 2010

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

article by Jenny Lord et al published 23 February 2019 in The Lancet

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

artículo científico publicado en 2015

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.

artículo científico publicado en 2008

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

artículo científico publicado en 2015

Progressive cone dystrophy associated with mutation in CNGB3.

artículo científico publicado en 2004

Protein-truncating mutations in ASPM cause variable reduction in brain size

artículo científico publicado en 2003

Proteomic identification of a role for the von Hippel Lindau tumour suppressor in changes in the expression of mitochondrial proteins and septin 2 in renal cell carcinoma

artículo científico publicado en 2006

Proteomic identification of differentially expressed plasma membrane proteins in renal cell carcinoma by stable isotope labelling of a von Hippel-Lindau transfectant cell line model

artículo científico publicado en 2009

RAN GTPase is a RASSF1A effector involved in controlling microtubule organization

artículo científico publicado en 2009

RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamics

artículo científico publicado en 2004

RASSF2methylation is a strong prognostic marker in younger age patients with Ewing sarcoma ⬇️

artículo científico publicado el 18 de julio de 2013

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

artículo científico publicado en 2015

Recurrent pneumothorax

artículo científico publicado en 2011

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

artículo científico publicado en 2004

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

artículo científico publicado en 2018

Risk of breast cancer in male BRCA2 carriers

artículo científico publicado en 2010

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

artículo científico publicado en 2012

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

artículo científico publicado en 2017

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

artículo científico publicado en 2019

SLIT2 axon guidance molecule is frequently inactivated in colorectal cancer and suppresses growth of colorectal carcinoma cells

artículo científico publicado en 2003

SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma

artículo científico publicado en 2004

SLIT2, a human homologue of the Drosophila Slit2 gene, has tumor suppressor activity and is frequently inactivated in lung and breast cancers

artículo científico publicado en 2002

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

artículo científico publicado en 2010

Stability of the CpG island methylator phenotype during glioma progression and identification of methylated loci in secondary glioblastomas

artículo científico publicado en 2014

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

artículo científico publicado en 2017

Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice

artículo científico publicado en 2006

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis ⬇️

artículo científico publicado el 1 de enero de 2012

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia

artículo científico publicado en 2014

The Birmingham Registry for Twin and Heritability Studies (BiRTHS).

artículo científico publicado en 2006

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

scientific journal article

The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways.

artículo científico publicado en 2010

The changing face and implications of childhood obesity.

artículo científico publicado en 2004

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

artículo científico publicado en 2013

The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

artículo científico publicado en 2011

The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias

artículo científico publicado en 2009

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

artículo científico publicado en 2002

The pressure rises: update on the genetics of phaeochromocytoma

artículo científico publicado en 2002

The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas

artículo científico publicado en 2003

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

artículo científico publicado en 2006

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer

artículo científico publicado en 2009

The use of folded melolabial interpolation flaps to repair full thickness distal nasal defects: A review of technique and results

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma

artículo científico publicado en 2006

Therapeutic targeting the loss of the birt-hogg-dube suppressor gene

artículo científico publicado en 2011

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

artículo científico publicado en 2014

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

artículo científico publicado en 2013

Transcriptional regulation of cyclin A2 by RASSF1A through the enhanced binding of p120E4F to the cyclin A2 promoter

artículo científico publicado en 2005

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility

artículo científico publicado en 2018

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

artículo científico publicado en 2010

Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma

artículo científico publicado en 2005

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

artículo científico publicado en 2018

Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancers

artículo científico publicado en 2002

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene

artículo científico publicado en 2013

VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

artículo científico publicado en 2007

VHL, the story of a tumour suppressor gene

artículo científico publicado en 2015

VHL-dependent regulation of a β-dystroglycan glycoform and glycogene expression in renal cancer

artículo científico publicado en 2013

Von Hippel-Lindau Disease

artículo científico publicado en 2004

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

artículo científico publicado en 2016

Von Hippel-Lindau disease and endocrine tumour susceptibility

artículo científico publicado en 2006

Whole-exome-sequencing-based discovery of human FADD deficiency

artículo científico publicado en 2010

Whole-genome sequencing of patients with rare diseases in a national health system

artículo científico publicado en 2020

X-linked cataract and Nance-Horan syndrome are allelic disorders

scientific article published on 04 May 2009

X-linked cone dystrophy caused by mutation of the red and green cone opsins

artículo científico publicado en 2010

von Hippel-Lindau disease: a clinical and scientific review

artículo científico publicado en 2011

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