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Eamonn Maher

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Chemicals & Drugs

Genes & Molecular Sequences

Tumor Suppressor Genes

Physiology

Anatomy

Chromosomes, Human, Pair 3

Procedures

DNA Mutational Analysis

Concepts & Ideas

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Publications

TOP 3
Woodward Emma R; Skytte Anne-Bine; Cruger Dorthe G; Maher Eamonn R
Population-based survey of cancer risks in chromosome 3 translocation carriers.
McNeill Alisdair; Rattenberry Eleanor; Barber Richard; Killick Pip; MacDonald Fiona; Maher Eamonn R
Genotype-phenotype correlations in VHL exon deletions.
Shuib Salwati; McMullan Dominic; Rattenberry Eleanor; Barber Richard M; Rahman Fatimah; Zatyka Malgosia; Chapman Cyril; Macdonald Fiona; Latif Farida; Davison Val; Maher Eamonn R
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

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All Publications

2010: Woodward Emma R; Skytte Anne-Bine; Cruger Dorthe G; Maher Eamonn R
Population-based survey of cancer risks in chromosome 3 translocation carriers.
Genes, chromosomes & cancer 2010;49(1):52-8.
2009: McNeill Alisdair; Rattenberry Eleanor; Barber Richard; Killick Pip; MacDonald Fiona; Maher Eamonn R
Genotype-phenotype correlations in VHL exon deletions.
American journal of medical genetics. Part A 2009;149A(10):2147-51.
2009: Shuib Salwati; McMullan Dominic; Rattenberry Eleanor; Barber Richard M; Rahman Fatimah; Zatyka Malgosia; Chapman Cyril; Macdonald Fiona; Latif Farida; Davison Val; Maher Eamonn R
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
American journal of medical genetics. Part A 2009;149A(10):2099-105.
2009: Jones Natalie; Vogt Stefanie; Nielsen Maartje; Christian Daria; Wark Petra A; Eccles Diana; Edwards Emma; Evans D Gareth; Maher Eamonn R; Vasen Hans F; Hes Frederik J; Aretz Stefan; Sampson Julian R
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
Gastroenterology 2009;137(2):489-94, 494.e1; quiz 725-6.
2009: Dallol Ashraf; Hesson Luke B; Matallanas David; Cooper Wendy N; O'Neill Eric; Maher Eamonn R; Kolch Walter; Latif Farida
RAN GTPase is a RASSF1A effector involved in controlling microtubule organization.
Current biology : CB 2009;19(14):1227-32.
2009: Coccia Margherita; Brooks Simon P; Webb Tom R; Christodoulou Katja; Wozniak Izabella O; Murday Victoria; Balicki Martha; Yee Harris A; Wangensteen Teresia; Riise Ruth; Saggar Anand K; Park Soo-Mi; Kanuga Naheed; Francis Peter J; Maher Eamonn R; Moore Anthony T; Russell-Eggitt Isabelle M; Hardcastle Alison J
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Human molecular genetics 2009;18(14):2643-55.
2009: Kurian Manju A; Zhen Juan; Cheng Shu-Yuan; Li Yan; Mordekar Santosh R; Jardine Philip; Morgan Neil V; Meyer Esther; Tee Louise; Pasha Shanaz; Wassmer Evangeline; Heales Simon J R; Gissen Paul; Reith Maarten E A; Maher Eamonn R
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
The Journal of clinical investigation 2009;119(6):1595-603.
2009: Srirangalingam Umasuthan; Khoo Bernard; Walker Lisa; MacDonald Fiona; Skelly Robert H; George Emad; Spooner David; Johnston Linda B; Monson John P; Grossman Ashley B; Drake W M; Akker Scott A; Pollard Patrick J; Plowman Nick; Avril Norbert; Berney Daniel M; Burrin Jacky M; Reznek Rodney H; Kumar V K Ajith; Maher Eamonn R; Chew Shern L
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.
Endocrine-related cancer 2009;16(2):515-25.
2009: Dunwell Thomas L; Dickinson Rachel E; Stankovic Tatjana; Dallol Ashraf; Weston Victoria; Austen Belinda; Catchpoole Daniel; Maher Eamonn R; Latif Farida
Frequent epigenetic inactivation of the SLIT2 gene in chronic and acute lymphocytic leukemia.
Epigenetics : official journal of the DNA Methylation Society 2009;4(4):265-9.
2009: Hayward Bruce E; De Vos Michel; Talati Nargese; Abdollahi M Reza; Taylor Graham R; Meyer Esther; Williams Denise; Maher Eamonn R; Setna Faridon; Nazir Kausar; Hussaini Shahnaz; Jafri Hussain; Rashid Yasmin; Sheridan Eamonn; Bonthron David T
Genetic and epigenetic analysis of recurrent hydatidiform mole.
Human mutation 2009;30(5):E629-39.
2009: Vogt J; Morgan N V; Marton T; Maxwell S; Harrison B J; Beeson D; Maher E R
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
Journal of medical genetics 2009;46(5):338-40.
2009: Dunwell Thomas L; Hesson Luke B; Pavlova Tatiana; Zabarovska Veronika; Kashuba Vladimir; Catchpoole Daniel; Chiaramonte Raffaella; Brini Anna T; Griffiths Mike; Maher Eamonn R; Zabarovsky Eugene; Latif Farida
Epigenetic analysis of childhood acute lymphoblastic leukemia.
Epigenetics : official journal of the DNA Methylation Society 2009;4(3):185-93.
2009: Aggelis Vassilis; Craven Rachel A; Peng Jianhe; Harnden Patricia; Cairns David A; Maher Eamonn R; Tonge Robert; Selby Peter J; Banks Rosamonde E
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.
Proteomics 2009;9(8):2118-30.
2009: Cangül Hakan; Ozdemir Ozlem; Yakut Tahsin; Okan Mehmet; Morgan Neil V; Baytan Birol; Kurian Manju A; Spiegel Ronald; Maher Eamonn R
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
The Turkish journal of pediatrics 2009;51(2):161-5.
2009: Meyer Esther; Lim Derek; Pasha Shanaz; Tee Louise J; Rahman Fatimah; Yates John R W; Woods C Geoffrey; Reik Wolf; Maher Eamonn R
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
PLoS genetics 2009;5(3):e1000423.
2009: Lim Derek; Bowdin Sarah C; Tee Louise; Kirby Gail A; Blair Edward; Fryer Alan; Lam Wayne; Oley Christine; Cole Trevor; Brueton Louise A; Reik Wolf; Macdonald Fiona; Maher Eamonn R
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Human reproduction (Oxford, England) 2009;24(3):741-7.
2009: Cullinane Andrew R; Straatman-Iwanowska Anna; Seo Jeong K; Ko Jae S; Song Kyung S; Gizewska Maria; Gruszfeld Dariusz; Gliwicz Dorota; Tuysuz Beyhan; Erdemir Gulin; Sougrat Rachid; Wakabayashi Yoshiyuki; Hinds Rupert; Barnicoat Angela; Mandel Hanna; Chitayat David; Fischler Björn; Garcia-Cazorla Angels; Knisely A S; Kelly Deirdre A; Maher Eamonn R; Gissen Paul
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation 2009;30(2):E330-7.
2009: Hesson Luke B; Dunwell Thomas L; Cooper Wendy N; Catchpoole Daniel; Brini Anna T; Chiaramonte Raffaella; Griffiths Mike; Chalmers Andrew D; Maher Eamonn R; Latif Farida
The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias.
Molecular cancer 2009;8():42.
2009: Ricketts Christopher; Zeegers Maurice P; Lubinski Jan; Maher Eamonn R
Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.
PloS one 2009;4(6):e6037.
2009: McRonald Fiona E; Morris Mark R; Gentle Dean; Winchester Laura; Baban Dilair; Ragoussis Jiannis; Clarke Noel W; Brown Michael D; Kishida Takeshi; Yao Masahiro; Latif Farida; Maher Eamonn R
CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma.
Molecular cancer 2009;8():31.
2009: Meyer Esther; Rahman Fatimah; Owens Jessica; Pasha Shanaz; Morgan Neil V; Trembath Richard C; Stone Edwin M; Moore Anthony T; Maher Eamonn R
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Molecular vision 2009;15():1014-9.
2008: Papaemmanuil Eli; Carvajal-Carmona Luis; Sellick Gabrielle S; Kemp Zoe; Webb Emily; Spain Sarah; Sullivan Kate; Barclay Ella; Lubbe Steven; Jaeger Emma; Vijayakrishnan Jayaram; Broderick Peter; Gorman Maggie; Martin Lynn; Lucassen Anneke; Bishop D Timothy; Evans D Gareth; Maher Eamonn R; Steinke Verena; Rahner Nils; Schackert Hans K; Goecke Timm O; Holinski-Feder Elke; Propping Peter; Van Wezel Tom; Wijnen Juul; Cazier Jean-Baptiste; Thomas Huw; Houlston Richard S; Tomlinson Ian;
Deciphering the genetics of hereditary non-syndromic colorectal cancer.
European journal of human genetics : EJHG 2008;16(12):1477-86.
2008: Scott Richard H; Douglas Jenny; Baskcomb Linda; Huxter Nikki; Barker Karen; Hanks Sandra; Craft Alan; Gerrard Mary; Kohler Janice A; Levitt Gill A; Picton Sue; Pizer Barry; Ronghe Milind D; Williams Denise; Cook Jackie A; Pujol Pascal; Maher Eamonn R; Birch Jillian M; Stiller Charles A; Pritchard-Jones Kathy; Rahman Nazneen
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.
Nature genetics 2008;40(11):1329-34.
2008: Srirangalingam Umasuthan; Walker Lisa; Khoo Bernard; MacDonald Fiona; Gardner Daphne; Wilkin Terence J; Skelly Robert H; George Emad; Spooner David; Monson John P; Grossman Ashley B; Akker Scott A; Pollard Patrick J; Plowman Nick; Avril Norbert; Berney Daniel M; Burrin Jacky M; Reznek Rodney H; Kumar V K Ajith; Maher Eamonn R; Chew Shern L
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.
Clinical endocrinology 2008;69(4):587-96.
2008: Kent Lindsey; Bowdin Sarah; Kirby Gail A; Cooper Wendy N; Maher Eamonn R
Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(7):1295-7.
2008: Woodward Emma R; Ricketts Christopher; Killick Pip; Gad Sophie; Morris M R; Kavalier Fred; Hodgson Shirley V; Giraud Sophie; Bressac-de Paillerets Brigitte; Chapman Cyril; Escudier Bernard; Latif Farida; Richard Stéphane; Maher Eamonn R
Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008;14(18):5925-30.
2008: Ricketts Christopher; Woodward Emma R; Killick Pip; Morris Mark R; Astuti Dewi; Latif Farida; Maher Eamonn R
Germline SDHB mutations and familial renal cell carcinoma.
Journal of the National Cancer Institute 2008;100(17):1260-2.
2008: Dallosso A R; Dolwani S; Jones N; Jones S; Colley J; Maynard J; Idziaszczyk S; Humphreys V; Arnold J; Donaldson A; Eccles D; Ellis A; Evans D G; Frayling I M; Hes F J; Houlston R S; Maher E R; Nielsen M; Parry S; Tyler E; Moskvina V; Cheadle J P; Sampson J R
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
Gut 2008;57(9):1252-5.
2008: Margetts Caroline D E; Morris Mark; Astuti Dewi; Gentle Dean C; Cascon Alberto; McRonald Fiona E; Catchpoole Daniel; Robledo Mercedes; Neumann Hartmut P H; Latif Farida; Maher Eamonn R
Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma.
Endocrine-related cancer 2008;15(3):777-86.
2008: Byrd Louise M; Shenton Andrew; Maher Eamonn R; Woodward Emma; Belk Rachel; Lim Caron; Lalloo Fiona; Howell Anthony; Jayson Gordon C; Evans Gareth D
Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008;17(6):1535-42.
2008: Cerrato Flavia; Sparago Angela; Verde Gaetano; De Crescenzo Agostina; Citro Valentina; Cubellis Maria Vittoria; Rinaldi Maria Michela; Boccuto Luigi; Neri Giovanni; Magnani Cinzia; D'Angelo Paolo; Collini Paola; Perotti Daniela; Sebastio Gianfranco; Maher Eamonn R; Riccio Andrea
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Human molecular genetics 2008;17(10):1427-35.
2008: Cooper W N; Dickinson R E; Dallol A; Grigorieva E V; Pavlova T V; Hesson L B; Bieche I; Broggini M; Maher E R; Zabarovsky E R; Clark G J; Latif F
Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer.
Oncogene 2008;27(12):1805-11.
2008: Morris M R; Gentle D; Abdulrahman M; Clarke N; Brown M; Kishida T; Yao M; Teh B T; Latif F; Maher E R
Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma.
British journal of cancer 2008;98(2):496-501.
2008: Vogt Julie; Harrison Benjamin J; Spearman Hayley; Cossins Judy; Vermeer Sascha; ten Cate Lambert Naudin; Morgan Neil V; Beeson David; Maher Eamonn R
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
American journal of human genetics 2008;82(1):222-7.
2008: Evans D Gareth; Shenton Andrew; Woodward Emma; Lalloo Fiona; Howell Anthony; Maher Eamonn R
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.
BMC cancer 2008;8():155.
2007: Lirussi Frédéric; Jonard Laurence; Gaston Véronique; Sanlaville Damien; Kooy R Frank; Winnepenninckx Birgitta; Maher Eamonn R; Fitzpatrick David R; Gicquel Christine; Portnoï Marie-France; Couderc Rémy; Vazquez Marie-Paule; Bahuau Michel
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
American journal of medical genetics. Part A 2007;143A(23):2796-803.
2007: Khaliq Shagufta; Abid Aiysha; White Dominick R A; Johnson Colin A; Ismail Muhammad; Khan Ayesha; Ayub Qasim; Sultana Salma; Maher Eamonn R; Mehdi Syed Qasim
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
American journal of medical genetics. Part A 2007;143A(23):2768-74.
2007: Bowdin Sarah; Allen Cathy; Kirby Gail; Brueton Louise; Afnan Masoud; Barratt Christopher; Kirkman-Brown Jackson; Harrison Robert; Maher Eamonn R; Reardon William
A survey of assisted reproductive technology births and imprinting disorders.
Human reproduction (Oxford, England) 2007;22(12):3237-40.
2007: Gissen Paul; Maher Eamonn R
Cargos and genes: insights into vesicular transport from inherited human disease.
Journal of medical genetics 2007;44(9):545-55.
2007: Cooper Wendy N; Curley Rebecca; Macdonald Fiona; Maher Eamonn R
Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
Genomics 2007;89(5):613-7.
2007: Foster Rebecca E; Abdulrahman Mahera; Morris Mark R; Prigmore Elena; Gribble Susan; Ng Beeling; Gentle Dean; Ready Steven; Weston Phil M T; Wiesener Michael S; Kishida Takeshi; Yao Masahiro; Davison Val; Barbero Jose Luis; Chu Carol; Carter Nigel P; Latif Farida; Maher Eamonn R
Characterization of a 3;6 translocation associated with renal cell carcinoma.
Genes, chromosomes & cancer 2007;46(4):311-7.
2007: Woodward Emma R; Wall Kerry; Forsyth Joan; Macdonald Fiona; Maher Eamonn R
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
Brain : a journal of neurology 2007;130(Pt 3):836-42.
2007: Abdulrahman M; Maina E N; Morris M R; Zatyka M; Raval R R; Banks R E; Wiesener M S; Richards F M; Johnson C M; Latif F; Maher E R
Identification of novel VHL targets that are associated with the development of renal cell carcinoma.
Oncogene 2007;26(11):1661-72.
2007: Scott Andrew; Strouthidis Nicholas G; Robson Anthony G; Forsyth Joan; Maher Eamonn R; Schlottmann Patricio G; Michaelides Michel
Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
American journal of ophthalmology 2007;143(2):346-8.
2007: White Dominic R A; Ganesh Anuradha; Nishimura Darryl; Rattenberry Eleanor; Ahmed Shakeel; Smith Ursula M; Pasha Shanaz; Raeburn Sandy; Trembath Richard C; Rajab Anna; Macdonald Fiona; Banin Eyal; Stone Edwin M; Johnson Colin A; Sheffield Val C; Maher Eamonn R
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
European journal of human genetics : EJHG 2007;15(2):173-8.
2007: Ong Kai Ren; Woodward Emma R; Killick Pip; Lim Caron; Macdonald Fiona; Maher Eamonn R
Genotype-phenotype correlations in von Hippel-Lindau disease.
Human mutation 2007;28(2):143-9.
2007: Dallol Ashraf; Cooper Wendy N; Al-Mulla Fahd; Agathanggelou Angelo; Maher Eamonn R; Latif Farida
Depletion of the Ras association domain family 1, isoform A-associated novel microtubule-associated protein, C19ORF5/MAP1S, causes mitotic abnormalities.
Cancer research 2007;67(2):492-500.
2007: Smith A; Moran A; Boyd M C; Bulman M; Shenton A; Smith L; Iddenden R; Woodward E R; Lalloo F; Maher E R; Evans D G R
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.
Journal of medical genetics 2007;44(1):10-15.
2006: Krone Ruth E; Ewer Andrew K; Barrett Timothy G; Moy Robert J; Bakour Shagaf; Maher Eamonn R; Thangaratinam Shakila; Cox Philip; Martin Bill; Khan Khalid S; Zeegers Maurice P
The Birmingham Registry for Twin and Heritability Studies (BiRTHS).
Twin research and human genetics : the official journal of the International Society for Twin Studies 2006;9(6):907-12.
2006: Gimenez-Roqueplo Anne-Paule; Lehnert Hendrik; Mannelli Massimo; Neumann Hartmut; Opocher Giuseppe; Maher Eamonn R; Plouin Pierre-François;
Phaeochromocytoma, new genes and screening strategies.
Clinical endocrinology 2006;65(6):699-705.
2006: Pollard Patrick J; El-Bahrawy Mona; Poulsom Richard; Elia George; Killick Pip; Kelly Gavin; Hunt Toby; Jeffery Rosemary; Seedhar Pooja; Barwell Julian; Latif Farida; Gleeson Michael J; Hodgson Shirley V; Stamp Gordon W; Tomlinson Ian P M; Maher Eamonn R
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.
The Journal of clinical endocrinology and metabolism 2006;91(11):4593-8.
2006: Kemp Zoe; Carvajal-Carmona Luis; Spain Sarah; Barclay Ella; Gorman Margaret; Martin Lynn; Jaeger Emma; Brooks Neil; Bishop D Timothy; Thomas Huw; Tomlinson Ian; Papaemmanuil Elli; Webb Emily; Sellick Gabrielle S; Wood Wendy; Evans Gareth; Lucassen Anneke; Maher Eamonn R; Houlston Richard S;
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan.
Human molecular genetics 2006;15(19):2903-10.
2006: Gissen Paul; Tee Louise; Johnson Colin A; Genin Emmanuelle; Caliebe Almuth; Chitayat David; Clericuzio Carol; Denecke Jonas; Di Rocco Maja; Fischler Björn; FitzPatrick David; García-Cazorla Angeles; Guyot Delphine; Jacquemont Sebastien; Koletzko Sibylle; Leheup Bruno; Mandel Hanna; Sanseverino Maria Teresa Vieira; Houwen Roderick H J; McKiernan Patrick J; Kelly Deirdre A; Maher Eamonn R
Clinical and molecular genetic features of ARC syndrome.
Human genetics 2006;120(3):396-409.
2006: Morgan Neil V; Brueton Louise A; Cox Phillip; Greally Marie T; Tolmie John; Pasha Shanaz; Aligianis Irene A; van Bokhoven Hans; Marton Tamas; Al-Gazali Lihadh; Morton Jenny E V; Oley Christine; Johnson Colin A; Trembath Richard C; Brunner Han G; Maher Eamonn R
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
American journal of human genetics 2006;79(2):390-5.
2006: Prowse Amanda H; Manek Sanjiv; Varma Rajesh; Liu Jinsong; Godwin Andrew K; Maher Eamonn R; Tomlinson Ian P M; Kennedy Stephen H
Molecular genetic evidence that endometriosis is a precursor of ovarian cancer.
International journal of cancer. Journal international du cancer 2006;119(3):556-62.
2006: Morgan Neil V; Westaway Shawn K; Morton Jenny E V; Gregory Allison; Gissen Paul; Sonek Scott; Cangul Hakan; Coryell Jason; Canham Natalie; Nardocci Nardo; Zorzi Giovanna; Pasha Shanaz; Rodriguez Diana; Desguerre Isabelle; Mubaidin Amar; Bertini Enrico; Trembath Richard C; Simonati Alessandro; Schanen Carolyn; Johnson Colin A; Levinson Barbara; Woods C Geoffrey; Wilmot Beth; Kramer Patricia; Gitschier Jane; Maher Eamonn R; Hayflick Susan J
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nature genetics 2006;38(7):752-4.
2006: Craven Rachel A; Hanrahan Sarah; Totty Nick; Harnden Patricia; Stanley Anthea J; Maher Eamonn R; Harris Adrian L; Trimble William S; Selby Peter J; Banks Rosamonde E
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.
Proteomics 2006;6(13):3880-93.
2006: Woodward Emma R; Maher Eamonn R
Von Hippel-Lindau disease and endocrine tumour susceptibility.
Endocrine-related cancer 2006;13(2):415-25.
2006: Kemp Zoe E; Carvajal-Carmona Luis G; Barclay Ella; Gorman Margaret; Martin Lynn; Wood Wendy; Rowan Andrew; Donohue Claire; Spain Sarah; Jaeger Emma; Evans D Gareth; Maher Eamonn R; Bishop Timothy; Thomas Huw; Houlston Richard; Tomlinson Ian;
Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom.
Cancer research 2006;66(10):5003-6.
2006: Aligianis Irene A; Morgan Neil V; Mione Marina; Johnson Colin A; Rosser Elisabeth; Hennekam Raoul C; Adams Gill; Trembath Richard C; Pilz Daniela T; Stoodley Neil; Moore Anthony T; Wilson Steve; Maher Eamonn R
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
American journal of human genetics 2006;78(4):702-7.
2006: Abbott Mary-Alice; Nathanson Katherine L; Nightingale Simon; Maher Eamonn R; Greenstein Robert M
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
American journal of medical genetics. Part A 2006;140(7):685-90.
2006: Sutcliffe A G; Peters C J; Bowdin S; Temple K; Reardon W; Wilson L; Clayton-Smith J; Brueton L A; Bannister W; Maher E R
Assisted reproductive therapies and imprinting disorders--a preliminary British survey.
Human reproduction (Oxford, England) 2006;21(4):1009-11.
2006: De Vos Michel; Hayward Bruce E; Charlton Ruth; Taylor Graham R; Glaser Adam W; Picton Susan; Cole Trevor R; Maher Eamonn R; McKeown Carole M E; Mann Jill R; Yates John R; Baralle Diana; Rankin Julia; Bonthron David T; Sheridan Eamonn
PMS2 mutations in childhood cancer.
Journal of the National Cancer Institute 2006;98(5):358-61.
2006: Banks Rosamonde E; Tirukonda Prasanna; Taylor Claire; Hornigold Nick; Astuti Dewi; Cohen Dena; Maher Eamonn R; Stanley Anthea J; Harnden Patricia; Joyce Adrian; Knowles Margaret; Selby Peter J
Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.
Cancer research 2006;66(4):2000-11.
2006: Morgan Neil V; Pasha Shanaz; Johnson Colin A; Ainsworth John R; Eady Robin A J; Dawood Ban; McKeown Carole; Trembath Richard C; Wilde Jonathan; Watson Steve P; Maher Eamonn R
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
American journal of human genetics 2006;78(1):160-6.
2006: Maher Eamonn R
Genetics of phaeochromocytoma.
British medical bulletin 2006;79-80():141-51.
2006: Antoniou Antonis C; Shenton Andrew; Maher Eamonn R; Watson Emma; Woodward Emma; Lalloo Fiona; Easton Douglas F; Evans D Gareth
Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
Breast cancer research : BCR 2006;8(6):R72.
2005: Dallol Ashraf; Agathanggelou Angelo; Tommasi Stella; Pfeifer Gerd P; Maher Eamonn R; Latif Farida
Involvement of the RASSF1A tumor suppressor gene in controlling cell migration.
Cancer research 2005;65(17):7653-9.
2005: Cooper Wendy N; Luharia Anita; Evans Gail A; Raza Hussain; Haire Antonita C; Grundy Richard; Bowdin Sarah C; Riccio Andrea; Sebastio Gianfranco; Bliek Jet; Schofield Paul N; Reik Wolf; Macdonald Fiona; Maher Eamonn R
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
European journal of human genetics : EJHG 2005;13(9):1025-32.
2005: Forshew Tim; Johnson Colin A; Khaliq Shagufta; Pasha Shanaz; Willis Catherine; Abbasi Rashida; Tee Louise; Smith Ursula; Trembath Richard C; Mehdi Syed Qasim; Moore Anthony T; Maher Eamonn R
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Human genetics 2005;117(5):452-9.
2005: Diaz-Meyer N; Yang Y; Sait S N; Maher E R; Higgins M J
Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2005;42(8):648-55.
2005: Forshew T; Khaliq S; Tee L; Smith U; Johnson C A; Mehdi S Q; Maher E R
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
Clinical genetics 2005;68(2):182-4.
2005: Morris Mark R; Gentle Dean; Abdulrahman Mahera; Maina Esther N; Gupta Kunal; Banks Rosamonde E; Wiesener Michael S; Kishida Takeshi; Yao Masahiro; Teh Bin; Latif Farida; Maher Eamonn R
Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma.
Cancer research 2005;65(11):4598-606.
2005: Ebenezer Neil D; Michaelides Michel; Jenkins Sharon A; Audo Isabelle; Webster Andrew R; Cheetham Michael E; Stockman Andrew; Maher Eamonn R; Ainsworth John R; Yates John R; Bradshaw Keith; Holder Graham E; Moore Anthony T; Hardcastle Alison J
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Investigative ophthalmology & visual science 2005;46(6):1891-8.
2005: Zatyka M; Priestley M; Ladusans E J; Fryer A E; Mason J; Latif F; Maher E R
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).
Clinical genetics 2005;67(6):526-8.
2005: Schmidt Laura S; Nickerson Michael L; Warren Michelle B; Glenn Gladys M; Toro Jorge R; Merino Maria J; Turner Maria L; Choyke Peter L; Sharma Nirmala; Peterson James; Morrison Patrick; Maher Eamonn R; Walther McClellan M; Zbar Berton; Linehan W Marston
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
American journal of human genetics 2005;76(6):1023-33.
2005: Maina Esther N; Morris Mark R; Zatyka Malgorzata; Raval Raju R; Banks Rosamonde E; Richards Frances M; Johnson Claire M; Maher Eamonn R
Identification of novel VHL target genes and relationship to hypoxic response pathways.
Oncogene 2005;24(28):4549-58.
2005: Hesson Luke B; Wilson Robin; Morton Dion; Adams Clare; Walker Mike; Maher Eamonn R; Latif Farida
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.
Oncogene 2005;24(24):3987-94.
2005: Baumber L; Tufarelli C; Patel S; King P; Johnson C A; Maher E R; Trembath R C
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
Journal of medical genetics 2005;42(5):443-8.
2005: Gissen Paul; Johnson Colin A; Gentle Dean; Hurst Laurence D; Doherty Aidan J; O'Kane Cahir J; Kelly Deirdre A; Maher Eamonn R
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.
Human molecular genetics 2005;14(10):1261-70.
2005: Maher Eamonn R
Imprinting and assisted reproductive technology.
Human molecular genetics 2005;14 Spec No 1():R133-8.
2005: Ahmed-Choudhury Jalal; Agathanggelou Angelo; Fenton Sarah L; Ricketts Christopher; Clark Geoffrey J; Maher Eamonn R; Latif Farida
Transcriptional regulation of cyclin A2 by RASSF1A through the enhanced binding of p120E4F to the cyclin A2 promoter.
Cancer research 2005;65(7):2690-7.
2005: Astuti D; Latif F; Wagner K; Gentle D; Cooper W N; Catchpoole D; Grundy R; Ferguson-Smith A C; Maher E R
Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour.
British journal of cancer 2005;92(8):1574-80.
2005: Margetts C D E; Astuti D; Gentle D C; Cooper W N; Cascon A; Catchpoole D; Robledo M; Neumann H P H; Latif F; Maher E R
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.
Endocrine-related cancer 2005;12(1):161-72.
2005: Evans D G; Shenton A; Sharif S; Woodward E; Lalloo F; Maher E R
Non-random transmission of mutant alleles to female offspring in BRCA carriers.
Journal of medical genetics 2005;42(2):e6.
2005: Ferguson Roisean E; Carroll Helen P; Harris Adrian; Maher Eamonn R; Selby Peter J; Banks Rosamonde E
Housekeeping proteins: a preliminary study illustrating some limitations as useful references in protein expression studies.
Proteomics 2005;5(2):566-71.
2004: Maher Eamonn R
Von Hippel-Lindau disease.
Current molecular medicine 2004;4(8):833-42.
2004: Dickinson R E; Dallol A; Bieche I; Krex D; Morton D; Maher E R; Latif F
Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers.
British journal of cancer 2004;91(12):2071-8.
2004: Lynex Clare N; Carr Ian M; Leek Jack P; Achuthan Rajgopal; Mitchell Simon; Maher Eamonn R; Woods C Geoffrey; Bonthon David T; Markham Alex F
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.
BMC neurology 2004;4(1):20.
2004: Astuti D; Morris M; Krona C; Abel F; Gentle D; Martinsson T; Kogner P; Neumann H P H; Voutilainen R; Eng C; Rustin P; Latif F; Maher E R
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.
British journal of cancer 2004;91(10):1835-41.
2004: Morris M R; Maina E; Morgan N V; Gentle D; Astuti D; Moch H; Kishida T; Yao M; Schraml P; Richards F M; Latif F; Maher E R
Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma.
Journal of clinical pathology 2004;57(7):706-11.
2004: Dallol Ashraf; Agathanggelou Angelo; Fenton Sarah L; Ahmed-Choudhury Jalal; Hesson Luke; Vos Michele D; Clark Geoffrey J; Downward Julian; Maher Eamonn R; Latif Farida
RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamics.
Cancer research 2004;64(12):4112-6.
2004: Michaelides Michel; Aligianis Irene A; Ainsworth John R; Good Peter; Mollon John D; Maher Eamonn R; Moore Anthony T; Hunt David M
Progressive cone dystrophy associated with mutation in CNGB3.
Investigative ophthalmology & visual science 2004;45(6):1975-82.
2004: Lawrence Justin K; Maher Eamonn R; Sheaves Richard; Grossman Ashley B
Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG.
Hormones (Athens, Greece) 2004;3(2):127-31.
2004: Gissen Paul; Johnson Colin A; Morgan Neil V; Stapelbroek Janneke M; Forshew Tim; Cooper Wendy N; McKiernan Patrick J; Klomp Leo W J; Morris Andrew A M; Wraith James E; McClean Patricia; Lynch Sally A; Thompson Richard J; Lo Bryan; Quarrell Oliver W; Di Rocco Maja; Trembath Richard C; Mandel Hanna; Wali S; Karet Fiona E; Knisely A S; Houwen Roderick H J; Kelly Deirdre A; Maher Eamonn R
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nature genetics 2004;36(4):400-4.
2004: Varma Rajesh; Rollason Terrance; Gupta Janesh K; Maher Eamonn R
Endometriosis and the neoplastic process.
Reproduction (Cambridge, England) 2004;127(3):293-304.
2004: Hesson Luke; Bièche Ivan; Krex Dietmar; Criniere Emmanuelle; Hoang-Xuan Khê; Maher Eamonn R; Latif Farida
Frequent epigenetic inactivation of RASSF1A and BLU genes located within the critical 3p21.3 region in gliomas.
Oncogene 2004;23(13):2408-19.
2004: Johnson S; Michaelides M; Aligianis I A; Ainsworth J R; Mollon J D; Maher E R; Moore A T; Hunt D M
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Journal of medical genetics 2004;41(2):e20.
2004: Astuti D; Da Silva N F; Dallol A; Gentle D; Martinsson T; Kogner P; Grundy R; Kishida T; Yao M; Latif F; Maher E R
SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma.
British journal of cancer 2004;90(2):515-21.
2004: Fenton Sarah L; Dallol Ashraf; Agathanggelou Angelo; Hesson Luke; Ahmed-Choudhury Jalal; Baksh Shairaz; Sardet Claude; Dammann Reinhard; Minna John D; Downward Julian; Maher Eamonn R; Latif Farida
Identification of the E1A-regulated transcription factor p120 E4F as an interacting partner of the RASSF1A candidate tumor suppressor gene.
Cancer research 2004;64(1):102-7.
2004: Murrell Adele; Heeson Sarah; Cooper Wendy N; Douglas Eleanor; Apostolidou Sophia; Moore Gudrun E; Maher Eamonn R; Reik Wolf
An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.
Human molecular genetics 2004;13(2):247-55.
2003: Astuti Dewi; Hart-Holden Niki; Latif Farida; Lalloo Fiona; Black Graeme C; Lim Caron; Moran Anthony; Grossman Ashley B; Hodgson Shirley V; Freemont Anthony; Ramsden Richard; Eng Charis; Evans D Gareth R; Maher Eamonn R
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Clinical endocrinology 2003;59(6):728-33.
2003: Maher Eamonn R; Afnan Masoud; Barratt Christopher L
Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?
Human reproduction (Oxford, England) 2003;18(12):2508-11.
2003: Chen Jindong; Lui Weng-Onn; Vos Michele D; Clark Geoffrey J; Takahashi Masayuki; Schoumans Jacqueline; Khoo Sok Kean; Petillo David; Lavery Todd; Sugimura Jun; Astuti Dewi; Zhang Chun; Kagawa Susumu; Maher Eamonn R; Larsson Catharina; Alberts Arthur S; Kanayama Hiro-omi; Teh Bin Tean
The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas.
Cancer cell 2003;4(5):405-13.
2003: da Silva N Fernandes; Gentle D; Hesson L B; Morton D G; Latif F; Maher E R
Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.
Journal of medical genetics 2003;40(11):820-4.
2003: Diaz-Meyer N; Day C D; Khatod K; Maher E R; Cooper W; Reik W; Junien C; Graham G; Algar E; Der Kaloustian V M; Higgins M J
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2003;40(11):797-801.
2003: Michaelides M; Aligianis I A; Holder G E; Simunovic M; Mollon J D; Maher E R; Hunt D M; Moore A T
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).
The British journal of ophthalmology 2003;87(11):1317-20.
2003: Bond Jacquelyn; Scott Sheila; Hampshire Daniel J; Springell Kelly; Corry Peter; Abramowicz Marc J; Mochida Ganesh H; Hennekam Raoul C M; Maher Eamonn R; Fryns Jean-Pierre; Alswaid Abdulrahman; Jafri Hussain; Rashid Yasmin; Mubaidin Ammar; Walsh Christopher A; Roberts Emma; Woods C Geoffrey
Protein-truncating mutations in ASPM cause variable reduction in brain size.
American journal of human genetics 2003;73(5):1170-7.
2003: Morris Mark R; Hesson Luke B; Wagner Kate J; Morgan Neil V; Astuti Dewi; Lees Robert D; Cooper Wendy N; Lee JouAnn; Gentle Dean; Macdonald Fiona; Kishida Takeshi; Grundy Richard; Yao Masahiro; Latif Farida; Maher Eamonn R
Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma.
Oncogene 2003;22(43):6794-801.
2003: Agathanggelou Angelo; Bièche Ivan; Ahmed-Choudhury Jalal; Nicke Barbara; Dammann Reinhard; Baksh Shairaz; Gao Boning; Minna John D; Downward Julian; Maher Eamonn R; Latif Farida
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.
Cancer research 2003;63(17):5344-51.
2003: Dallol Ashraf; Krex Dietmar; Hesson Luke; Eng Charis; Maher Eamonn R; Latif Farida
Frequent epigenetic inactivation of the SLIT2 gene in gliomas.
Oncogene 2003;22(29):4611-6.
2003: Sampson Julian R; Dolwani Sunil; Jones Sian; Eccles Diana; Ellis Anthony; Evans D Gareth; Frayling Ian; Jordan Sheila; Maher Eamonn R; Mak Tony; Maynard Julie; Pigatto Francesca; Shaw Joan; Cheadle Jeremy P
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
Lancet 2003;362(9377):39-41.
2003: Morgan N V; Bacchelli C; Gissen P; Morton J; Ferrero G B; Silengo M; Labrune P; Casteels I; Hall C; Cox P; Kelly D A; Trembath R C; Scambler P J; Maher E R; Goodman F R; Johnson C A
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
Journal of medical genetics 2003;40(6):431-5.
2003: Agathanggelou Angelo; Dallol Ashraf; Zöchbauer-Müller Sabine; Morrissey Catherine; Honorio Sofia; Hesson Luke; Martinsson Tommy; Fong Kwun M; Kuo Michael J; Yuen Po Wing; Maher Eamonn R; Minna John D; Latif Farida
Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.
Oncogene 2003;22(10):1580-8.
2003: Dallol Ashraf; Morton Dion; Maher Eamonn R; Latif Farida
SLIT2 axon guidance molecule is frequently inactivated in colorectal cancer and suppresses growth of colorectal carcinoma cells.
Cancer research 2003;63(5):1054-8.
2003: Hesson Luke; Dallol Ashraf; Minna John D; Maher Eamonn R; Latif Farida
NORE1A, a homologue of RASSF1A tumour suppressor gene is inactivated in human cancers.
Oncogene 2003;22(6):947-54.
2003: Reddy M A; Francis P J; Berry V; Bradshaw K; Patel R J; Maher E R; Kumar R; Bhattacharya S S; Moore A T
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
The British journal of ophthalmology 2003;87(2):197-202.
2003: Honorio Sofia; Agathanggelou Angelo; Wernert Nicolas; Rothe Marcus; Maher Eamonn R; Latif Farida
Frequent epigenetic inactivation of the RASSF1A tumour suppressor gene in testicular tumours and distinct methylation profiles of seminoma and nonseminoma testicular germ cell tumours.
Oncogene 2003;22(3):461-6.
2003: Honorio Sofia; Agathanggelou Angelo; Schuermann Marcus; Pankow Wulf; Viacava Paolo; Maher Eamonn R; Latif Farida
Detection of RASSF1A aberrant promoter hypermethylation in sputum from chronic smokers and ductal carcinoma in situ from breast cancer patients.
Oncogene 2003;22(1):147-50.
2003: Maher E R; Brueton L A; Bowdin S C; Luharia A; Cooper W; Cole T R; Macdonald F; Sampson J R; Barratt C L; Reik W; Hawkins M M
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).
Journal of medical genetics 2003;40(1):62-4.
2002: Morgan Neil V; Gissen Paul; Sharif Saghira Malik; Baumber Laura; Sutherland Joan; Kelly Deirdre A; Aminu Kingi; Bennett Christopher P; Woods C Geoffrey; Mueller Robert F; Trembath Richard C; Maher Eamonn R; Johnson Colin A
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Human genetics 2002;111(4-5):456-61.
2002: Dallol Ashraf; Da Silva Nancy Fernandes; Viacava Paolo; Minna John D; Bieche Ivan; Maher Eamonn R; Latif Farida
SLIT2, a human homologue of the Drosophila Slit2 gene, has tumor suppressor activity and is frequently inactivated in lung and breast cancers.
Cancer research 2002;62(20):5874-80.
2002: Wagner Kate J; Cooper Wendy N; Grundy Richard G; Caldwell Germaine; Jones Carolyn; Wadey Roy B; Morton Dion; Schofield Paul N; Reik Wolf; Latif Farida; Maher Eamonn R
Frequent RASSF1A tumour suppressor gene promoter methylation in Wilms' tumour and colorectal cancer.
Oncogene 2002;21(47):7277-82.
2002: Maher Eamonn R; Eng Charis
The pressure rises: update on the genetics of phaeochromocytoma.
Human molecular genetics 2002;11(20):2347-54.
2002: Green Jane; O'Driscoll Mary; Barnes Adam; Maher Eamonn R; Bridge Peter; Shields Keith; Parfrey Patrick S
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.
Diseases of the colon and rectum 2002;45(9):1223-32.
2002: Aligianis I A; Forshew T; Johnson S; Michaelides M; Johnson C A; Trembath R C; Hunt D M; Moore A T; Maher E R
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
Journal of medical genetics 2002;39(9):656-60.
2002: Endris Volker; Wogatzky Birgit; Leimer Uwe; Bartsch Dusan; Zatyka Malgorzata; Latif Farida; Maher Eamonn R; Tariverdian Gholamali; Kirsch Stefan; Karch Dieter; Rappold Gudrun A
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(18):11754-9.
2002: Hogg R P; Honorio S; Martinez A; Agathanggelou A; Dallol A; Fullwood P; Weichselbaum R; Kuo M J; Maher E R; Latif F
Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma.
European journal of cancer (Oxford, England : 1990) 2002;38(12):1585-92.
2002: Zatyka M; Morrissey C; Kuzmin I; Lerman M I; Latif F; Richards F M; Maher E R
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.
Journal of medical genetics 2002;39(7):463-72.
2002: Zatyka Malgorzata; da Silva Nancy Fernandes; Clifford Steven C; Morris Mark R; Wiesener Michael S; Eckardt Kai-Uwe; Houlston Richard S; Richards Frances M; Latif Farida; Maher Eamonn R
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.
Cancer research 2002;62(13):3803-11.
2002: Mandriota Stefano J; Turner Kevin J; Davies David R; Murray Paul G; Morgan Neil V; Sowter Heidi M; Wykoff Charles C; Maher Eamonn R; Harris Adrian L; Ratcliffe Peter J; Maxwell Patrick H
HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron.
Cancer cell 2002;1(5):459-68.
2002: Alvi A J; Hogg R; Rader J S; Kuo M J; Maher E R; Latif F
Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer.
Molecular pathology : MP 2002;55(3):153-5.
2002: Dallol Ashraf; Forgacs Eva; Martinez Alonso; Sekido Yoshitaka; Walker Rosemary; Kishida Takeshi; Rabbitts Pamela; Maher Eamonn R; Minna John D; Latif Farida
Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancers.
Oncogene 2002;21(19):3020-8.
2002: Wiesener Michael S; Seyfarth Melchior; Warnecke Christina; Jürgensen Jan Steffen; Rosenberger Christian; Morgan Neil V; Maher Eamonn R; Frei Ulrich; Eckardt Kai-Uwe
Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.
Blood 2002;99(10):3562-5.
2002: Porter Timothy R; Richards Frances M; Houlston Richard S; Evans D Gareth R; Jankowski Janusz A; Macdonald Fiona; Norbury Gail; Payne Stewart J; Fisher Samantha A; Tomlinson Ian; Maher Eamonn R
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.
Oncogene 2002;21(12):1928-33.
2002: Francis P J; Berry V; Hardcastle A J; Maher E R; Moore A T; Bhattacharya S S
A locus for isolated cataract on human Xp.
Journal of medical genetics 2002;39(2):105-9.
2001: Astuti D; Agathanggelou A; Honorio S; Dallol A; Martinsson T; Kogner P; Cummins C; Neumann H P; Voutilainen R; Dahia P; Eng C; Maher E R; Latif F
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours.
Oncogene 2001;20(51):7573-7.
2001: Parry L; Maynard J H; Patel A; Clifford S C; Morrissey C; Maher E R; Cheadle J P; Sampson J R
Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas.
British journal of cancer 2001;85(8):1226-30.
2001: Morrissey C; Martinez A; Zatyka M; Agathanggelou A; Honorio S; Astuti D; Morgan N V; Moch H; Richards F M; Kishida T; Yao M; Schraml P; Latif F; Maher E R
Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma.
Cancer research 2001;61(19):7277-81.
2001: Martinez A; Walker R A; Shaw J A; Dearing S J; Maher E R; Latif F
Chromosome 3p allele loss in early invasive breast cancer: detailed mapping and association with clinicopathological features.
Molecular pathology : MP 2001;54(5):300-6.
2001: Clifford S C; Astuti D; Hooper L; Maxwell P H; Ratcliffe P J; Maher E R
The pVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin B and C, Rbx1 and HIF-1alpha in renal cell carcinoma.
Oncogene 2001;20(36):5067-74.
2001: Alvi A J; Rader J S; Broggini M; Latif F; Maher E R
Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancer.
Molecular pathology : MP 2001;54(4):240-3.
2001: Wiesener M S; Münchenhagen P M; Berger I; Morgan N V; Roigas J; Schwiertz A; Jürgensen J S; Gruber G; Maxwell P H; Löning S A; Frei U; Maher E R; Gröne H J; Eckardt K U
Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas.
Cancer research 2001;61(13):5215-22.
2001: Astuti D; Latif F; Dallol A; Dahia P L; Douglas F; George E; Sköldberg F; Husebye E S; Eng C; Maher E R
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
American journal of human genetics 2001;69(1):49-54.
2001: Clifford S C; Cockman M E; Smallwood A C; Mole D R; Woodward E R; Maxwell P H; Ratcliffe P J; Maher E R
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
Human molecular genetics 2001;10(10):1029-38.
2001: Astuti D; Douglas F; Lennard T W; Aligianis I A; Woodward E R; Evans D G; Eng C; Latif F; Maher E R
Germline SDHD mutation in familial phaeochromocytoma.
Lancet 2001;357(9263):1181-2.
2001: Schofield P N; Joyce J A; Lam W K; Grandjean V; Ferguson-Smith A; Reik W; Maher E R
Genomic imprinting and cancer; new paradigms in the genetics of neoplasia.
Toxicology letters 2001;120(1-3):151-60.
2001: Agathanggelou A; Honorio S; Macartney D P; Martinez A; Dallol A; Rader J; Fullwood P; Chauhan A; Walker R; Shaw J A; Hosoe S; Lerman M I; Minna J D; Maher E R; Latif F
Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours.
Oncogene 2001;20(12):1509-18.
2001: Verma L; Porter T R; Richards F M; Rajpar M H; Evans D G; Macdonald F; Maher E R
Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer.
Journal of medical genetics 2001;38(2):E7.
2001: Clifford S C; Maher E R
Von Hippel-Lindau disease: clinical and molecular perspectives.
Advances in cancer research 2001;82():85-105.
2000: Engel J R; Smallwood A; Harper A; Higgins M J; Oshimura M; Reik W; Schofield P N; Maher E R
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2000;37(12):921-6.
2000: Green E K; Priestley M D; Waters J; Maliszewska C; Latif F; Maher E R
Detailed mapping of a congenital heart disease gene in chromosome 3p25.
Journal of medical genetics 2000;37(8):581-7.
2000: Cockman M E; Masson N; Mole D R; Jaakkola P; Chang G W; Clifford S C; Maher E R; Pugh C W; Ratcliffe P J; Maxwell P H
Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.
The Journal of biological chemistry 2000;275(33):25733-41.
2000: Martinez A; Fullwood P; Kondo K; Kishida T; Yao M; Maher E R; Latif F
Role of chromosome 3p12-p21 tumour suppressor genes in clear cell renal cell carcinoma: analysis of VHL dependent and VHL independent pathways of tumorigenesis.
Molecular pathology : MP 2000;53(3):137-44.
2000: Woodward E R; Buchberger A; Clifford S C; Hurst L D; Affara N A; Maher E R
Comparative sequence analysis of the VHL tumor suppressor gene.
Genomics 2000;65(3):253-65.
2000: Woodward E R; Clifford S C; Astuti D; Affara N A; Maher E R
Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes.
Journal of medical genetics 2000;37(5):348-53.
2000: Catchpoole D; Smallwood A V; Joyce J A; Murrell A; Lam W; Tang T; Munroe D; Reik W; Schofield P N; Maher E R
Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2000;37(3):212-5.
2000: Maher E R; Reik W
Beckwith-Wiedemann syndrome: imprinting in clusters revisited.
The Journal of clinical investigation 2000;105(3):247-52.
1999: Caldas C; Carneiro F; Lynch H T; Yokota J; Wiesner G L; Powell S M; Lewis F R; Huntsman D G; Pharoah P D; Jankowski J A; MacLeod P; Vogelsang H; Keller G; Park K G; Richards F M; Maher E R; Gayther S A; Oliveira C; Grehan N; Wight D; Seruca R; Roviello F; Ponder B A; Jackson C E
Familial gastric cancer: overview and guidelines for management.
Journal of medical genetics 1999;36(12):873-80.
1999: Verma L; Kane M F; Brassett C; Schmeits J; Evans D G; Kolodner R D; Maher E R
Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer.
Journal of medical genetics 1999;36(9):678-82.
1999: Fullwood P; Marchini S; Rader J S; Martinez A; Macartney D; Broggini M; Morelli C; Barbanti-Brodano G; Maher E R; Latif F
Detailed genetic and physical mapping of tumor suppressor loci on chromosome 3p in ovarian cancer.
Cancer research 1999;59(18):4662-7.
1999: Clifford S C; Walsh S; Hewson K; Green E K; Brinke A; Green P M; Gianelli F; Eng C; Maher E R
Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development.
Genes, chromosomes & cancer 1999;26(1):20-8.
1999: Lam W W; Hatada I; Ohishi S; Mukai T; Joyce J A; Cole T R; Donnai D; Reik W; Schofield P N; Maher E R
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
Journal of medical genetics 1999;36(7):518-23.
1999: Smilinich N J; Day C D; Fitzpatrick G V; Caldwell G M; Lossie A C; Cooper P R; Smallwood A C; Joyce J A; Schofield P N; Reik W; Nicholls R D; Weksberg R; Driscoll D J; Maher E R; Shows T B; Higgins M J
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(14):8064-9.
1999: Maxwell P H; Wiesener M S; Chang G W; Clifford S C; Vaux E C; Cockman M E; Wykoff C C; Pugh C W; Maher E R; Ratcliffe P J
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
Nature 1999;399(6733):271-5.
1999: Richards F M; McKee S A; Rajpar M H; Cole T R; Evans D G; Jankowski J A; McKeown C; Sanders D S; Maher E R
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.
Human molecular genetics 1999;8(4):607-10.
1999: Webster A R; Maher E R; Moore A T
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.
Archives of ophthalmology 1999;117(3):371-8.
1999: Webster A R; Maher E R; Bird A C; Gregor Z J; Moore A T
A clinical and molecular genetic analysis of solitary ocular angioma.
Ophthalmology 1999;106(3):623-9.
1999: Froggatt N J; Green J; Brassett C; Evans D G; Bishop D T; Kolodner R; Maher E R
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.
Journal of medical genetics 1999;36(2):97-102.
1998: Webster A R; Richards F M; MacRonald F E; Moore A T; Maher E R
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.
American journal of human genetics 1998;63(4):1025-35.
1998: Clifford S C; Prowse A H; Affara N A; Buys C H; Maher E R
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis.
Genes, chromosomes & cancer 1998;22(3):200-9.
1998: Paulsen M; Davies K R; Bowden L M; Villar A J; Franck O; Fuermann M; Dean W L; Moore T F; Rodrigues N; Davies K E; Hu R J; Feinberg A P; Maher E R; Reik W; Walter J
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.
Human molecular genetics 1998;7(7):1149-59.
1998: Richards F M; Webster A R; McMahon R; Woodward E R; Rose S; Maher E R
Molecular genetic analysis of von Hippel-Lindau disease.
Journal of internal medicine 1998;243(6):527-33.
1998: Clifford S C; Czapla K; Richards F M; O'Donoghue D J; Maher E R
Hepatocyte growth factor-stimulated renal tubular mitogenesis: effects on expression of c-myc, c-fos, c-met, VEGF and the VHL tumour-suppressor and related genes.
British journal of cancer 1998;77(9):1420-8.
1997: Maher E R; Kaelin W G
von Hippel-Lindau disease.
Medicine 1997;76(6):381-91.
1997: Webster A R; Fisher R B; Ginsberg L; Maher E R
Independent segregation of von Hippel-Lindau disease and cerebral cavernomas.
Journal of neurology, neurosurgery, and psychiatry 1997;63(5):665-8.
1997: Irving R M; Harada T; Moffat D A; Hardy D G; Whittaker J L; Xuereb J H; Maher E R
Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma.
The American journal of otology 1997;18(6):754-60.
1997: Joyce J A; Lam W K; Catchpoole D J; Jenks P; Reik W; Maher E R; Schofield P N
Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
Human molecular genetics 1997;6(9):1543-8.
1997: Reik W; Maher E R
Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome.
Trends in genetics : TIG 1997;13(8):330-4.
1997: Woodward E R; Eng C; McMahon R; Voutilainen R; Affara N A; Ponder B A; Maher E R
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Human molecular genetics 1997;6(7):1051-6.
1997: Catchpoole D; Lam W W; Valler D; Temple I K; Joyce J A; Reik W; Schofield P N; Maher E R
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
Journal of medical genetics 1997;34(5):353-9.
1997: Irving R M; Moffat D A; Hardy D G; Barton D E; Xuereb J H; Holland F J; Maher E R
A molecular, clinical, and immunohistochemical study of vestibular schwannoma.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1997;116(4):426-30.
1997: Prowse A H; Webster A R; Richards F M; Richard S; Olschwang S; Resche F; Affara N A; Maher E R
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
American journal of human genetics 1997;60(4):765-71.
1996: Brassett C; Joyce J A; Froggatt N J; Williams G; Furniss D; Walsh S; Miller R; Evans D G; Maher E R
Microsatellite instability in early onset and familial colorectal cancer.
Journal of medical genetics 1996;33(12):981-5.
1996: Brown K W; Villar A J; Bickmore W; Clayton-Smith J; Catchpoole D; Maher E R; Reik W
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.
Human molecular genetics 1996;5(12):2027-32.
1996: Scott R J; Froggatt N J; Trembath R C; Evans D G; Hodgson S V; Maher E R
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.
Human molecular genetics 1996;5(12):1921-4.
1996: Maher E R
Inherited renal cell carcinoma.
British journal of urology 1996;78(4):542-5.
1996: Froggatt N J; Brassett C; Koch D J; Evans D G; Hodgson S V; Ponder B A; Maher E R
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Journal of medical genetics 1996;33(9):726-30.
1996: Richards F M; Schofield P N; Fleming S; Maher E R
Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.
Human molecular genetics 1996;5(5):639-44.
1996: Harada T; Irving R M; Xuereb J H; Barton D E; Hardy D G; Moffat D A; Maher E R
Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.
Journal of neurosurgery 1996;84(5):847-51.
1996: Maher E R; Webster A R; Richards F M; Green J S; Crossey P A; Payne S J; Moore A T
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
Journal of medical genetics 1996;33(4):328-32.
1996: Froggatt N J; Joyce J A; Evans D G; Lunt P W; Koch D J; Ponder B J; Maher E R
MSH2 sequence variations and inherited colorectal cancer susceptibility.
European journal of cancer (Oxford, England : 1990) 1996;32A(1):178.
1996: Zbar B; Kishida T; Chen F; Schmidt L; Maher E R; Richards F M; Crossey P A; Webster A R; Affara N A; Ferguson-Smith M A; Brauch H; Glavac D; Neumann H P; Tisherman S; Mulvihill J J; Gross D J; Shuin T; Whaley J; Seizinger B; Kley N; Olschwang S; Boisson C; Richard S; Lips C H; Lerman M
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Human mutation 1996;8(4):348-57.
1995: Joyce J A; Froggatt N J; Davies R; Evans D G; Trembath R; Barton D E; Maher E R
Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer.
Clinical genetics 1995;48(6):299-303.
1995: Foster K; Osborne R J; Huddart R A; Affara N A; Ferguson-Smith M A; Maher E R
Molecular genetic analysis of the von Hippel-Lindau disease (VHL) tumour suppressor gene in gonadal tumours.
European journal of cancer (Oxford, England : 1990) 1995;31A(13-14):2392-5.
1995: Richards F M; Payne S J; Zbar B; Affara N A; Ferguson-Smith M A; Maher E R
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.
Human molecular genetics 1995;4(11):2139-43.
1995: Neumann H P; Eng C; Mulligan L M; Glavac D; Zäuner I; Ponder B A; Crossey P A; Maher E R; Brauch H
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
JAMA : the journal of the American Medical Association 1995;274(14):1149-51.
1995: Maher E R; Webster A R; Moore A T
Clinical features and molecular genetics of Von Hippel-Lindau disease.
Ophthalmic genetics 1995;16(3):79-84.
1995: Froggatt N J; Joyce J A; Davies R; Gareth D; Evans R; Ponder B A; Barton D E; Maher E R
A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome.
Lancet 1995;345(8951):727.
1995: Irving R M; Moffat D A; Maher E R
Genetics of familial and non-familial skull base tumours.
Clinical otolaryngology and allied sciences 1995;20(1):5-11.
1994: Slatter R E; Elliott M; Welham K; Carrera M; Schofield P N; Barton D E; Maher E R
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Journal of medical genetics 1994;31(10):749-53.
1994: Reik W; Brown K W; Slatter R E; Sartori P; Elliott M; Maher E R
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
Human molecular genetics 1994;3(8):1297-301.
1994: Elliott M; Bayly R; Cole T; Temple I K; Maher E R
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.
Clinical genetics 1994;46(2):168-74.
1994: Elliott M; Maher E R
Beckwith-Wiedemann syndrome.
Journal of medical genetics 1994;31(7):560-4.
1994: Foster K; Crossey P A; Cairns P; Hetherington J W; Richards F M; Jones M H; Bentley E; Affara N A; Ferguson-Smith M A; Maher E R
Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22.
British journal of cancer 1994;69(2):230-4.
1994: Irving R M; Moffat D A; Hardy D G; Barton D E; Xuereb J H; Maher E R
Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.
Human molecular genetics 1994;3(2):347-50.
1994: Maher E R
Von Hippel-Lindau disease.
European journal of cancer (Oxford, England : 1990) 1994;30A(13):1987-90.
1993: Irving R M; Moffat D A; Hardy D G; Barton D E; Xuereb J H; Maher E R
Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma.
Archives of otolaryngology--head & neck surgery 1993;119(11):1222-8.
1993: Richards F M; Latif F; Lerman M I; Zbar B; Maher E R
TaqI and PstI RFLPs in the von Hippel-Lindau disease gene (VHL).
Human molecular genetics 1993;2(10):1750.
1993: Phipps M E; Maher E R; Affara N A; Latif F; Leversha M A; Ferguson-Smith M E; Nakamura Y; Lerman M; Zbar B; Ferguson-Smith M A
Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).
Human genetics 1993;92(1):18-22.
1993: Maher E R; Barton D E; Slatter R; Koch D J; Jones M H; Nagase H; Payne S J; Charles S J; Moore A T; Nakamura Y
Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.
Journal of medical genetics 1993;30(8):675-8.
1993: Crossey P A; Maher E R; Jones M H; Richards F M; Latif F; Phipps M E; Lush M; Foster K; Tory K; Green J S
Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus.
Human molecular genetics 1993;2(3):279-82.
1993: Richards F M; Maher E R; Latif F; Phipps M E; Tory K; Lush M; Crossey P A; Oostra B; Enblad P; Gustavson K H
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.
Journal of medical genetics 1993;30(2):104-7.
1992: Maher E R; Moore A T
Von Hippel-Lindau disease.
The British journal of ophthalmology 1992;76(12):743-5.
1992: Maher E R; Bentley E; Payne S J; Latif F; Richards F M; Chiano M; Hosoe S; Yates J R; Linehan M; Barton D E
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
Journal of medical genetics 1992;29(12):902-5.
1992: Moore A T; Maher E R; Koch D J; Charles S J
Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC).
Ophthalmic paediatrics and genetics 1992;13(2):67-71.
1992: Maher E R; Morson B; Beach R; Hodgson S V
Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor).
Cancer 1992;69(8):2049-51.
1992: Blamires T L; Maher E R
Choroid plexus papilloma. A new presentation of von Hippel-Lindau (VHL) disease.
Eye (London, England) 1992;6 ( Pt 1)():90-2.
1991: Maher E R; Willatt L; Cuthbert G; Chapman C; Hodgson S V
Three cases of 16q duplication.
Journal of medical genetics 1991;28(11):801-2.
1991: Maher E R; Bentley E; Yates J R; Latif F; Lerman M; Zbar B; Affara N A; Ferguson-Smith M A
Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.
Genomics 1991;10(4):957-60.
1991: Maher E R; Iselius L; Yates J R; Littler M; Benjamin C; Harris R; Sampson J; Williams A; Ferguson-Smith M A; Morton N
Von Hippel-Lindau disease: a genetic study.
Journal of medical genetics 1991;28(7):443-7.
1991: Moore A T; Maher E R; Rosen P; Gregor Z; Bird A C
Ophthalmological screening for von Hippel-Lindau disease.
Eye (London, England) 1991;5 ( Pt 6)():723-8.
1990: Maher E R; Bentley E; Yates J R; Barton D; Jennings A; Fellows I W; Ponder M A; Ponder B A; Benjamin C; Harris R
Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.
Journal of the neurological sciences 1990;100(1-2):27-30.
1990: Maher E R; Yates J R; Harries R; Benjamin C; Harris R; Moore A T; Ferguson-Smith M A
Clinical features and natural history of von Hippel-Lindau disease.
The Quarterly journal of medicine 1990;77(283):1151-63.
1990: Maher E R; Yates J R; Ferguson-Smith M A
Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
Journal of medical genetics 1990;27(5):311-4.

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