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Eamonn Maher

Research Profile

Disorders

Physiology

Chemicals & Drugs

Genes & Molecular Sequences

Genes, Tumor Suppressor

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DNA Mutational Analysis

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Anatomy

Chromosomes, Human, Pair 3

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Mariam Jafri; Gail Kilby; Ajith V Kumar; Fiona Lalloo; Fiona Macdonald; Patrick J Morrison; Eleanor Rattenberry; Umasuthan Srirangalingam; Susan Tomkins; Lindsey Vialard; James Whitworth; Emma Woodward; Ruth Armstrong; Brew Atkinson; S J B Aylwin; Steve G Ball; Julian Barwell; Paul Brennan; Carole Brewer; Natalie Canham; Shern L Chew; Trevor R Cole; Jackie Cook; Alan Donaldson; Dafydd Gareth R Evans; Shirley V Hodgson; Richard Irving; Louise Izatt; Eamonn R Maher
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Mark R Morris; Dewi Astuti; Eamonn R Maher
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.
Amy A Slater; Masahiro Yao; Eamonn R Maher; Majed Alokail; Dean Gentle; Gyula Kovacs; Farida Latif
DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma.

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All Publications

2013: Mariam Jafri; Gail Kilby; Ajith V Kumar; Fiona Lalloo; Fiona Macdonald; Patrick J Morrison; Eleanor Rattenberry; Umasuthan Srirangalingam; Susan Tomkins; Lindsey Vialard; James Whitworth; Emma Woodward; Ruth Armstrong; Brew Atkinson; S J B Aylwin; Steve G Ball; Julian Barwell; Paul Brennan; Carole Brewer; Natalie Canham; Shern L Chew; Trevor R Cole; Jackie Cook; Alan Donaldson; Dafydd Gareth R Evans; Shirley V Hodgson; Richard Irving; Louise Izatt; Eamonn R Maher
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Clinical endocrinology 2013;78(6):898-906.
2013: Mark R Morris; Dewi Astuti; Eamonn R Maher
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.
American journal of medical genetics. Part C, Seminars in medical genetics 2013;163(2):106-13.
2013: Amy A Slater; Masahiro Yao; Eamonn R Maher; Majed Alokail; Dean Gentle; Gyula Kovacs; Farida Latif
DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma.
Epigenetics : official journal of the DNA Methylation Society 2013;8(3):252-67.
2013: Graeme Eisenhofer; Eamonn R Maher; Karel Pacak; William F Young; Ronald R de Krijger
Pheochromocytoma.
Clinical chemistry 2013;59(3):466-72.
2013: Thoraia Shinawi; Wenbin Wei; Eamonn R Maher; Mark Morris; Gabriele Schackert; Garth Cruickshank; Dean Gentle; Victoria K Hill; Dietmar Krex; Farida Latif
DNA methylation profiles of long- and short-term glioblastoma survivors.
Epigenetics : official journal of the DNA Methylation Society 2013;8(2):149-56.
2013: Eamonn R Maher
Genomics and epigenomics of renal cell carcinoma.
Seminars in cancer biology 2013;23(1):10-7.
2013: Neil V Morgan; Shanaz Pasha; Kenneth Dr Setchell; Michael A Simpson; Louise Tee; Richard C Trembath; Rachel Brown; Paul Gissen; Jane L Hartley; Sian Kirkham; Eamonn R Maher; Deirdre A Kelly
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Orphanet journal of rare diseases 2013;8():74.
2013: Diana M Walsh; Juan Chemke; Zulema Gelman-Kohan; Neil V Morgan; Stavit A Shalev; Michael A Simpson; Richard C Trembath; Eamonn R Maher
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
European journal of medical genetics 2013;56(1):39-42.
2012: Michael S Nahorski; Anne Reiman; Laurence Seabra; Ania Straatman-Iwanowska; Bin Tean Teh; Aileen Wingenfeld; Paul Gissen; Mechthild Hatzfeld; Jeff A Klomp; Xiaohong Lu; Eamonn R Maher
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.
Human molecular genetics 2012;21(24):5268-79.
2012: Cesar Luiz Boguszewski; Andressa Bornschein; Judit Dénes; Sian Ellard; Tayane Muniz Fighera; Eamonn R Maher; Fabricio Machado Marques; Eleanor Rattenbery; Karen Stals; Marta Korbonits
Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma.
Arquivos brasileiros de endocrinologia e metabologia 2012;56(8):507-12.
2012: Anne Reiman; Laurence Seabra; Wenbin Wei; Uncaar Boora; Xiaohong Lu; Michael S Nahorski; Eamonn R Maher
Gene expression and protein array studies of folliculin-regulated pathways.
Anticancer research 2012;32(11):4663-70.
2012: S C Hillman; Eamonn R Maher; D J McMullan; D Williams; Mark D Kilby
Microarray comparative genomic hybridization in prenatal diagnosis: a review.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2012;40(4):385-91.
2012: Annapurna Poduri; Mustafa Sahin; Mustafa A M Salih; Ingrid E Scheffer; Tommy Stödberg; Christopher A Walsh; Bai-Lin Wu; Brenda J Barry; Gerard T Berry; Sameer S Chopra; P Christina Elhosary; Omar S Khwaja; Manju A Kurian; Eamonn R Maher; Esther Meyer; Edward G Neilan; Jonathan Picker; Sanjeev V Kothare
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia 2012;53(8):e146-50.
2012: Christopher J Ricketts; Naomi Wake; Emma R Woodward; Mark Morris; Michael Brown; Noel Clarke; Dean Gentle; Farida Latif; Eamonn R Maher
Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma.
Epigenetics : official journal of the DNA Methylation Society 2012;7(3):278-90.
2012: Thoraia Shinawi; Kostas Stamatopoulos; Tatjana Stankovic; Eamonn R Maher; Angelo Agathanggelou; Panagiotis Baliakas; Antonis Dagklis; Paolo Ghia; Victoria Hill; Farida Latif
KIBRA gene methylation is associated with unfavorable biological prognostic parameters in chronic lymphocytic leukemia.
Epigenetics : official journal of the DNA Methylation Society 2012;7(3):211-5.
2012: Dewi Astuti; Trevor Cole; Wendy N Cooper; Graham A Fews; Dean Gentle; Harmeet Gill; Farida Latif; Mark Morris; Ferenc Müller; Giovanni Neri; John M Opitz; Ger J M Pruijn; Christopher J Ricketts; Patrick Rump; Salwati Shuib; Raymond H J Staals; Irene Stolte-Dijkstra; Anthonie J van Essen; Richard A van Lingen; Naomi C Wake; Eamonn R Maher
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Nature genetics 2012;44(3):277-84.
2012: Mariam Jafri; Eamonn R Maher
The genetics of phaeochromocytoma: using clinical features to guide genetic testing.
European journal of endocrinology / European Federation of Endocrine Societies 2012;166(2):151-8.
2012: Hakan Cangul; Yasar Cesur; Semra Cetinkaya; Feyza Darendeliler; Korcan Demir; Erdal Eren; Julia R Forman; Wolfgang Högler; Ambika Karthikeyan; Michaela Kendall; Aslihan Kiraz; Jeremy Kirk; Selim Kurtoglu; Zehra Aycan; Banu K Aydin; Timothy G Barrett; Veysel Bas; Ece Bober; Kristien Boelaert; Halil Saglam; Nick J Shaw; Omer Tarim; Eamonn R Maher
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Journal of pediatric endocrinology & metabolism : JPEM 2012;25(5-6):419-26.
2011: E Meyer; Neil V Morgan; A Norman; Shanaz Pasha; Louise Tee; Richard C Trembath; M S van der Knaap; Evangeline Wassmer; R Younis; Louise A Brueton; M A Kurian; A McNeill; Eamonn R Maher
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Molecular genetics and metabolism 2011;104(4):637-43.
2011: Michael S Nahorski; Ravi K Nookala; Magnus Nordenskjöld; Anne Reiman; Laurence Seabra; Uncaar Boora; Janine Fenton; Laurence D Hurst; Farida Latif; Derek H K Lim; Xiaohong Lu; Eamonn R Maher
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Human mutation 2011;32(8):921-9.
2011: Pekka Nieminen; Satu Parmanen; Peter J van der Spek; Lotta Veistinen; Steven A Wall; Andrew O M Wilkie; Sirpa Arte; Louise A Brueton; Aimée L Fenwick; Andrew Giraud; Louise Judd; Sven Kreiborg; Eamonn R Maher; Irene M J Mathijssen; Marja L Mikkola; Neil V Morgan; Irma Thesleff
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
American journal of human genetics 2011;89(1):67-81.
2011: Salwati Shuib; Wenbin Wei; Hariom Sur; Mark Morris; Dominic McMullan; Eleanor Rattenberry; Esther Meyer; Patrick H Maxwell; Takeshi Kishida; Masahiro Yao; Farida Latif; Eamonn R Maher
Copy number profiling in von Hippel-Lindau disease renal cell carcinoma.
Genes, chromosomes & cancer 2011;50(7):479-88.
2011: Federico Formenti; Philip A Beer; Quentin P P Croft; Keith L Dorrington; Daniel P Gale; Terence R J Lappin; Guy S Lucas; Eamonn R Maher; Patrick H Maxwell; Mary F McMullin; David F O'Connor; Melanie J Percy; Christopher W Pugh; Peter J Ratcliffe; Thomas G Smith; Nick P Talbot; Peter A Robbins
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011;25(6):2001-11.
2011: Eamonn R Maher; Hartmut Ph Neumann; Stéphane Richard
von Hippel-Lindau disease: a clinical and scientific review.
European journal of human genetics : EJHG 2011;19(6):617-23.
2011: Laura Southgate; Rajiv D Machado; Katie M Snape; Martin Primeau; Dimitra Dafou; Deborah M Ruddy; Peter A Branney; Malcolm Fisher; Grace J Lee; Michael A Simpson; Yi He; Teisha Y Bradshaw; Bettina Blaumeiser; William S Winship; Willie Reardon; Eamonn R Maher; David R FitzPatrick; Wim Wuyts; Martin Zenker; Nathalie Lamarche-Vane; Richard C Trembath
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
American journal of human genetics 2011;88(5):574-85.
2011: Tom G Hopkins; Eamonn R Maher; Evan Reid; Stefan Marciniak
Recurrent pneumothorax.
Lancet 2011;377(9777):1624.
2011: John Burn; Pamela D Chapman; Julie Coaker; Malcolm G Dunlop; Diana Eccles; Faye Elliott; Anthony Ellis; D Gareth Evans; Riccardo Fodde; Eamonn R Maher; John C Mathers; Gabriela Möslein; Robin K S Phillips; Hans F A Vasen; Lucio Bertario; D Timothy Bishop; Steffen Bülow
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis.
Cancer prevention research (Philadelphia, Pa.) 2011;4(5):655-65.
2011: Manju A Kurian; Alasdair McNeill; Jean-Pierre Lin; Eamonn R Maher
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
Developmental medicine and child neurology 2011;53(5):394-404.
2011: Victoria K Hill; Christopher Ricketts; Ivan Bieche; Sophie Vacher; Dean Gentle; Cheryl Lewis; Eamonn R Maher; Farida Latif
Genome-wide DNA methylation profiling of CpG islands in breast cancer identifies novel genes associated with tumorigenicity.
Cancer research 2011;71(8):2988-99.
2011: Danai Bem; Shin-Ichiro Yoshimura; Ricardo Nunes-Bastos; Frances F Bond; Manju A Kurian; Fatima Rahman; Mark T W Handley; Yavor Hadzhiev; Imran Masood; Ania A Straatman-Iwanowska; Andrew R Cullinane; Alisdair McNeill; Shanaz Pasha; Gail A Kirby; Katharine Foster; Zubair Ahmed; Jenny E V Morton; Denise Williams; John M Graham; William B Dobyns; Lydie Burglen; John R Ainsworth; Paul Gissen; Ferenc Müller; Eamonn R Maher; Francis A Barr; Frances C Bond; Irene A Aligianis
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
American journal of human genetics 2011;88(4):499-507.
2011: Mark Morris; Christopher Ricketts; Dean Gentle; F McRonald; N Carli; H Khalili; Michael Brown; Takeshi Kishida; Masahiro Yao; Rosamonde E Banks; N Clarke; Farida Latif; Eamonn R Maher
Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma.
Oncogene 2011;30(12):1390-401.
2011: Victoria K Hill; Thomas L Dunwell; Daniel Catchpoole; Dietmar Krex; Anna T Brini; Mike Griffiths; Charles Craddock; Eamonn R Maher; Farida Latif
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.
Epigenetics : official journal of the DNA Methylation Society 2011;6(3):326-32.
2011: V K Hill; N Underhill-Day; Dietmar Krex; K Robel; C B Sangan; H R Summersgill; Mark Morris; Dean Gentle; A D Chalmers; Eamonn R Maher; Farida Latif
Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis.
Oncogene 2011;30(8):978-89.
2011: Neil V Morgan; Sarah Goddard; Tony S Cardno; David McDonald; Fatimah Rahman; Dawn Barge; Andrew Ciupek; Anna Straatman-Iwanowska; Shanaz Pasha; Mary Guckian; Graham Anderson; Aarnoud Huissoon; Andrew Cant; Warren P Tate; Sophie Hambleton; Eamonn R Maher
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.
The Journal of clinical investigation 2011;121(2):695-702.
2011: Dewi Astuti; Christopher Ricketts; Rasheduzzaman Chowdhury; Michael A McDonough; Dean Gentle; Gail Kirby; Susanne Schlisio; Rajappa S Kenchappa; Bruce D Carter; William G Kaelin; Peter J Ratcliffe; Christopher J Schofield; Farida Latif; Eamonn R Maher
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.
Endocrine-related cancer 2011;18(1):73-83.
2011: Xiaohong Lu; Wenbin Wei; Janine Fenton; Michael S Nahorski; Erzsebet Rabai; Anne Reiman; Laurence Seabra; Zsuzsanna Nagy; Farida Latif; Eamonn R Maher
Therapeutic targeting the loss of the birt-hogg-dube suppressor gene.
Molecular cancer therapeutics 2011;10(1):80-9.
2011: Manju A Kurian; Yan Li; Juan Zhen; Esther Meyer; Nebula Hai; Hans-Jürgen Christen; Georg F Hoffmann; Philip Jardine; Arpad von Moers; Santosh R Mordekar; Finbar O'Callaghan; Evangeline Wassmer; Elizabeth Wraige; Christa Dietrich; Timothy Lewis; Keith Hyland; Simon J R Heales; Terence Sanger; Paul Gissen; Birgit E Assmann; Maarten E A Reith; Eamonn R Maher
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
Lancet neurology 2011;10(1):54-62.
2011: Eamonn R Maher
Genetics of familial renal cancers.
Nephron. Experimental nephrology 2011;118(1):e21-6.
2011: S C Hillman; Samantha Pretlove; Aravinthan Coomarasamy; D J McMullan; E V Davison; Eamonn R Maher; Mark D Kilby
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011;37(1):6-14.
2010: Alexandre Bolze; Minji Byun; David McDonald; Neil V Morgan; Avinash Abhyankar; Lakshmanane Premkumar; Anne Puel; Chris M Bacon; Frédéric Rieux-Laucat; Ki Pang; Alison Britland; Laurent Abel; Andrew Cant; Eamonn R Maher; Stefan J Riedl; Sophie Hambleton; Jean-Laurent Casanova
Whole-exome-sequencing-based discovery of human FADD deficiency.
American journal of human genetics 2010;87(6):873-81.
2010: Sarah Joyce; Louise Tee; Aiysha Abid; Shagufta Khaliq; S Qasim Mehdi; Eamonn R Maher
Locus heterogeneity and Knobloch syndrome.
American journal of medical genetics. Part A 2010;152A(11):2880-1.
2010: Hakan Cangul; Neil V Morgan; Julia R Forman; Halil Saglam; Zehra Aycan; Tahsin Yakut; Tuna Gulten; Omer Tarim; Ece Bober; Yasar Cesur; Gail A Kirby; Shanaz Pasha; Mutlu Karkucak; Erdal Eren; Semra Cetinkaya; Veysel Bas; Korcan Demir; Sevil A Yuca; Esther Meyer; Michaela Kendall; Wolfgang Hogler; Timothy G Barrett; Eamonn R Maher
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Clinical endocrinology 2010;73(5):671-7.
2010: Manju A Kurian; Esther Meyer; Grace Vassallo; Neil V Morgan; Nandhini Prakash; Shanaz Pasha; Nebula A Hai; Salwati Shuib; Fatima Rahman; Evangeline Wassmer; J Helen Cross; Finbar J O'Callaghan; John P Osborne; Ingrid E Scheffer; Paul Gissen; Eamonn R Maher
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
Brain : a journal of neurology 2010;133(10):2964-70.
2010: D G R Evans; I Susnerwala; J Dawson; Emma R Woodward; Eamonn R Maher; Fiona Lalloo
Risk of breast cancer in male BRCA2 carriers.
Journal of medical genetics 2010;47(10):710-1.
2010: Laura Southgate; Dimitra Dafou; Jacqueline Hoyle; Nan Li; Esther Kinning; Peter Critchley; Andrea H Németh; Kevin Talbot; Parayil S Bindu; Sanjib Sinha; Arun B Taly; Seetharam Raghavendra; Ferenc Müller; Eamonn R Maher; Richard C Trembath
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Neurogenetics 2010;11(4):379-89.
2010: Ismail Alrashdi; G Bano; Eamonn R Maher; Shirley V Hodgson
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.
Familial cancer 2010;9(3):443-7.
2010: F E Lock; N Underhill-Day; T Dunwell; David Matallanas; W Cooper; Luke Hesson; A Recino; A Ward; T Pavlova; E Zabarovsky; M M Grant; Eamonn R Maher; A D Chalmers; Walter Kolch; Farida Latif
The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways.
Oncogene 2010;29(30):4307-16.
2010: Jessica C Gardner; Tom R Webb; Naheed Kanuga; Anthony G Robson; Graham Holder; Andrew Stockman; Caterina Ripamonti; Neil D Ebenezer; Olufunmilola Ogun; Sophie Devery; Genevieve A Wright; Eamonn R Maher; Michael Cheetham; Anthony T Moore; Michel Michaelides; Alison J Hardcastle
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
American journal of human genetics 2010;87(1):26-39.
2010: Christopher K Bruce; Matthew Smith; Fatima Rahman; Zhi-feng Liu; Dominic J McMullan; Sarah Ball; Jane Hartley; Marian A Kroos; Lesley Heptinstall; Arnold J J Reuser; Arndt Rolfs; Chris Hendriksz; Deirdre A Kelly; Timothy G Barrett; Fiona Macdonald; Eamonn R Maher; Paul Gissen
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Human mutation 2010;31(7):858-65.
2010: Michael S Nahorski; Derek H K Lim; Lynn Martin; Johan J P Gille; Kirsten McKay; Pauline K Rehal; H Martijn Ploeger; Maurice A M van Steensel; Ian P Tomlinson; Farida Latif; Fred H Menko; Eamonn R Maher
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
Journal of medical genetics 2010;47(6):385-90.
2010: Rabia Bourkiza; Sarah Joyce; Himanshu Patel; Michelle Chan; Esther Meyer; Eamonn R Maher; M Ashwin Reddy
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.
Ophthalmic genetics 2010;31(2):73-6.
2010: Danielle Crompton; Pauline K Rehal; Lesley MacPherson; Katharine Foster; Peter Lunt; Imelda Hughes; Angela F Brady; Michael G Pike; Susanna De Gressi; Neil V Morgan; Carol Hardy; Matthew Smith; Fiona MacDonald; Eamonn R Maher; Manju A Kurian
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.
Molecular genetics and metabolism 2010;100(2):207-12.
2010: Jane Louise Hartley; Nicholas Constantine Zachos; Ban Dawood; Mark Donowitz; Julia Forman; Rodney J Pollitt; Neil V Morgan; Louise Tee; Paul Gissen; Walter H A Kahr; Alex S Knisely; Steve Watson; David Chitayat; Ian W Booth; Sue Protheroe; Stephen Murphy; Esther de Vries; Deirdre A Kelly; Eamonn R Maher
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Gastroenterology 2010;138(7):2388-98, 2398.e1-2.
2010: Mark Morris; Christopher Ricketts; Dean Gentle; mahera abdulrahman; N Clarke; Michael Brown; Takeshi Kishida; Masahiro Yao; Farida Latif; Eamonn R Maher
Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma.
Oncogene 2010;29(14):2104-17.
2010: Andrew R Cullinane; Anna Straatman-Iwanowska; Andreas Zaucker; Yoshiyuki Wakabayashi; Christopher K Bruce; Guanmei Luo; Fatimah Rahman; Figen Gürakan; Eda Utine; Tanju B Ozkan; Jonas Denecke; Jurica Vukovic; Maja Di Rocco; Hanna Mandel; Hakan Cangul; Randolph P Matthews; Steve G Thomas; Joshua Z Rappoport; Irwin M Arias; Hartwig Wolburg; Alex S Knisely; Deirdre A Kelly; Ferenc Müller; Eamonn R Maher; Paul Gissen
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Nature genetics 2010;42(4):303-12.
2010: Esther Meyer; Christopher Ricketts; Neil V Morgan; Mark Morris; Shanaz Pasha; Louise J Tee; Fatimah Rahman; Anne Bazin; Bettina Bessières; Pierre Déchelotte; Mohamed T Yacoubi; Mudher Al Adnani; Tamas Marton; David Tannahill; Richard C Trembath; Catherine Fallet-Bianco; Phillip Cox; Denise Williams; Eamonn R Maher
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
American journal of human genetics 2010;86(3):471-8.
2010: Esther Meyer; Manju A Kurian; Shanaz Pasha; Richard C Trembath; Trevor Cole; Eamonn R Maher
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
Molecular genetics and metabolism 2010;99(3):325-8.
2010: Neil V Morgan; Mark Morris; Hakan Cangul; Diane Gleeson; Anna Straatman-Iwanowska; Nicholas Davies; Stephen Keenan; Shanaz Pasha; Fatimah Rahman; Dean Gentle; Maaike P G Vreeswijk; Peter Devilee; Margaret A Knowles; Serdar Ceylaner; Richard C Trembath; Carlos Dalence; Erol Kismet; Vedat Köseoğlu; Hans-Christoph Rossbach; Paul Gissen; David Tannahill; Eamonn R Maher
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
PLoS genetics 2010;6(2):e1000833.
2010: Mark Morris; Eamonn R Maher
Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics.
Genome medicine 2010;2(9):59.
2010: Esther Meyer; Michel Michaelides; Louise J Tee; Anthony G Robson; Fatimah Rahman; Shanaz Pasha; Linda M Luxon; Anthony T Moore; Eamonn R Maher
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
Molecular vision 2010;16():650-64.
2010: Thomas Dunwell; Luke Hesson; Tibor A Rauch; Lihui Wang; Richard E Clark; Ashraf Dallol; Dean Gentle; Daniel Catchpoole; Eamonn R Maher; Gerd P Pfeifer; Farida Latif
A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancers.
Molecular cancer 2010;9():44.
2010: Emma R Woodward; Anne-Bine Skytte; Dorthe G Cruger; Eamonn R Maher
Population-based survey of cancer risks in chromosome 3 translocation carriers.
Genes, chromosomes & cancer 2010;49(1):52-8.
2010: Christopher J Ricketts; Julia R Forman; Eleanor Rattenberry; Nicola Bradshaw; Fiona Lalloo; Louise Izatt; TR Cole; Ruth Armstrong; V K Ajith Kumar; Patrick J Morrison; Brew Atkinson; Fiona Douglas; Steve G Ball; Jackie Cook; Umasuthan Srirangalingam; Pip Killick; Gail Kirby; Simon Aylwin; Emma R Woodward; D Gareth R Evans; Shirley V Hodgson; Vicky Murday; Shern L Chew; John M Connell; Tom L Blundell; Fiona Macdonald; Eamonn R Maher
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Human mutation 2010;31(1):41-51.
2010: Derek H K Lim; Pauline K Rehal; Michael S Nahorski; Fiona Macdonald; Tijs Claessens; Michel Van Geel; Lieke Gijezen; Johan J P Gille; Sophie Giraud; Stephane Richard; Maurice A M van Steensel; Fred H Menko; Eamonn R Maher
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Human mutation 2010;31(1):E1043-51.
2009: Derek Hk Lim; Eamonn R Maher
Human imprinting syndromes.
Epigenomics 2009;1(2):347-69.
2009: Roland P Kuiper; Lilian A Vreede; Ramprasath Venkatachalam; Chris Ricketts; Eveline Kamping; Eugene Verwiel; Lutgarde Govaerts; Maria Debiec-Rychter; Evelyne Lerut; Femke van Erp; Nicoline Hoogerbrugge; Léon C L van Kempen; Eric F P M Schoenmakers; Anita Bonne; Eamonn R Maher; Ad Geurts van Kessel
The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer.
Cancer genetics and cytogenetics 2009;195(2):105-11.
2009: Fred H Menko; Maurice A M van Steensel; Sophie Giraud; Lennart Friis-Hansen; Stéphane Richard; Silvana Ungari; Magnus Nordenskjöld; Thomas Vo Hansen; John Solly; Eamonn R Maher
Birt-Hogg-Dubé syndrome: diagnosis and management.
The lancet oncology 2009;10(12):1199-206.
2009: Mark Morris; David J Hughes; Ya-Min Tian; Christopher J Ricketts; Kah Weng Lau; Dean Gentle; Salwati Shuib; Pablo Serrano-Fernandez; Jan Lubinski; Michael S Wiesener; Christopher W Pugh; Farida Latif; Peter J Ratcliffe; Eamonn R Maher
Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma.
Anticancer research 2009;29(11):4337-43.
2009: Alisdair McNeill; Eleanor Rattenberry; Richard Barber; Pip Killick; Fiona Macdonald; Eamonn R Maher
Genotype-phenotype correlations in VHL exon deletions.
American journal of medical genetics. Part A 2009;149A(10):2147-51.
2009: Salwati Shuib; Dominic McMullan; Eleanor Rattenberry; Richard M Barber; Fatimah Rahman; Malgosia Zatyka; Cyril Chapman; Fiona Macdonald; Farida Latif; Val Davison; Eamonn R Maher
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
American journal of medical genetics. Part A 2009;149A(10):2099-105.
2009: Natalie Jones; Stefanie Vogt; Maartje Nielsen; Daria Christian; Petra A Wark; Diana Eccles; Emma Edwards; D Gareth Evans; Eamonn R Maher; Hans F Vasen; Frederik J Hes; Stefan Aretz; Julian R Sampson
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
Gastroenterology 2009;137(2):489-94, 494.e1; quiz 725-6.
2009: Ashraf Dallol; Luke B Hesson; David Matallanas; Wendy N Cooper; Eric O'Neill; Eamonn R Maher; Walter Kolch; Farida Latif
RAN GTPase is a RASSF1A effector involved in controlling microtubule organization.
Current biology : CB 2009;19(14):1227-32.
2009: Margherita Coccia; Simon P Brooks; Tom R Webb; Katja Christodoulou; Izabella O Wozniak; Victoria Murday; Martha Balicki; Harris A Yee; Teresia Wangensteen; Ruth Riise; Anand K Saggar; Soo-Mi Park; Naheed Kanuga; Peter J Francis; Eamonn R Maher; Anthony T Moore; Isabelle M Russell-Eggitt; Alison J Hardcastle
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Human molecular genetics 2009;18(14):2643-55.
2009: Manju A Kurian; Juan Zhen; Shu-Yuan Cheng; Yan Li; Santosh Mordekar; Philip Jardine; Neil V Morgan; Esther Meyer; Louise Tee; Shanaz Pasha; Evangeline Wassmer; Simon J R Heales; Paul Gissen; Maarten E A Reith; Eamonn R Maher
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: Umasuthan Srirangalingam; Bernard Khoo; Lisa Walker; Fiona MacDonald; Rob H Skelly; Emad George; David Spooner; Linda B Johnston; John P Monson; Ashley B Grossman; William M Drake; Scott A Akker; Patrick J Pollard; Nick Plowman; Norbert Avril; Daniel M Berney; Jacky M Burrin; Rodney H Reznek; V K Ajith Kumar; Eamonn R Maher; Shern L Chew
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.
Endocrine-related cancer 2009;16(2):515-25.
2009: Thomas L Dunwell; Rachel E Dickinson; Tatjana Stankovic; Ashraf Dallol; Victoria Weston; Belinda Austen; Daniel Catchpoole; Eamonn R Maher; Farida Latif
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: Bruce E Hayward; Michel De Vos; Nargese Talati; M Reza Abdollahi; Graham Taylor; Esther Meyer; Denise Williams; Eamonn R Maher; Faridon Setna; Kausar Nazir; Shahnaz Hussaini; Hussain Jafri; Yasmin Rashid; Eamonn Sheridan; David T Bonthron
Genetic and epigenetic analysis of recurrent hydatidiform mole.
Human mutation 2009;30(5):E629-39.
2009: J Vogt; Neil V Morgan; T Marton; S Maxwell; B J Harrison; David Beeson; Eamonn R Maher
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
Journal of medical genetics 2009;46(5):338-40.
2009: Thomas L Dunwell; Luke Hesson; Tatiana Pavlova; Veronika Zabarovska; Vladimir Kashuba; Daniel Catchpoole; Raffaella Chiaramonte; Anna T Brini; Mike Griffiths; Eamonn R Maher; Eugene Zabarovsky; Farida Latif
Epigenetic analysis of childhood acute lymphoblastic leukemia.
Epigenetics : official journal of the DNA Methylation Society 2009;4(3):185-93.
2009: Vassilis Aggelis; Rachel A Craven; Jianhe Peng; Patricia Harnden; David A Cairns; Eamonn R Maher; Robert Tonge; Peter J Selby; Rosamonde E Banks
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: Hakan Cangül; Ozlem Ozdemir; Tahsin Yakut; M Okan; Neil V Morgan; Birol Baytan; Manju A Kurian; Ronald Spiegel; Eamonn R Maher
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: Esther Meyer; Derek Lim; Shanaz Pasha; Louise Tee; Fatimah Rahman; John R W Yates; C Geoffrey Woods; Wolf Reik; Eamonn R Maher
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
PLoS genetics 2009;5(3):e1000423.
2009: Derek Lim; Sarah Bowdin; Louise Tee; Gail A Kirby; Edward Blair; Alan Fryer; Wayne Lam; Christine Oley; Trevor Cole; Louise A Brueton; Wolf Reik; Fiona Macdonald; Eamonn R Maher
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Human reproduction (Oxford, England) 2009;24(3):741-7.
2009: Andrew R Cullinane; Anna Straatman-Iwanowska; Jeong K Seo; Jae S Ko; Kyung S Song; Maria Gizewska; Dariusz Gruszfeld; Dorota Gliwicz; Beyhan Tuysuz; Gulin Erdemir; Rachid Sougrat; Yoshiyuki Wakabayashi; Rupert Hinds; Angela Barnicoat; Hanna Mandel; David Chitayat; Björn Fischler; Angels Garcia-Cazorla; Alex S Knisely; Deirdre A Kelly; Eamonn R Maher; Paul Gissen
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation 2009;30(2):E330-7.
2009: Tricia M-M Tan; Emma C I Hatfield; Rajesh V Thakker; Eamonn R Maher; Karim Meeran; Niamh M Martin; Jeremy J Turner
A legacy of tinnitus: multiple head and neck paragangliomas.
Rare tumors 2009;1(2):e29.
2009: Luke Hesson; Thomas L Dunwell; Wendy N Cooper; Daniel Catchpoole; Anna T Brini; Raffaella Chiaramonte; Mike Griffiths; Andrew D Chalmers; Eamonn R Maher; Farida Latif
The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias.
Molecular cancer 2009;8():42.
2009: Christopher Ricketts; Maurice Zeegers; Jan Lubinski; Eamonn R Maher
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: Fiona E McRonald; Mark Morris; Dean Gentle; Laura Winchester; Dilair Baban; Jiannis Ragoussis; Noel W Clarke; Michael Brown; Takeshi Kishida; Masahiro Yao; Farida Latif; Eamonn R Maher
CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma.
Molecular cancer 2009;8():31.
2009: Esther Meyer; Fatimah Rahman; Jessica Owens; Shanaz Pasha; Neil V Morgan; Richard C Trembath; Edwin M Stone; Anthony T Moore; Eamonn R Maher
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Molecular vision 2009;15():1014-9.
2008: Eli Papaemmanuil; Luis Carvajal Carmona; Gabrielle S Sellick; Zoe Kemp; Emily Webb; Sarah Spain; Kate Sullivan; Ella Barclay; Steven Lubbe; Emma Jaeger; Jayaram Vijayakrishnan; Peter Broderick; Maggie Gorman; Lynn Martin; Anneke Lucassen; D Timothy Bishop; D Gareth Evans; Eamonn R Maher; Verena Steinke; Nils Rahner; Hans K Schackert; Timm O Goecke; Elke Holinski-Feder; Peter Propping; Tom van Wezel; Juul Wijnen; Jean-Baptiste Cazier; Huw Thomas; Richard S Houlston; Ian Tomlinson
Deciphering the genetics of hereditary non-syndromic colorectal cancer.
European journal of human genetics : EJHG 2008;16(12):1477-86.
2008: Richard H Scott; Jenny Douglas; Linda Baskcomb; Nikki Huxter; Karen Barker; Sandra Hanks; Alan Craft; Mary Gerrard; Janice A Kohler; Gill A Levitt; Sue Picton; Barry Pizer; Milind D Ronghe; Denise Williams; Jackie A Cook; Pascal Pujol; Eamonn R Maher; Jillian M Birch; Charles A Stiller; Kathy Pritchard-Jones; Nazneen Rahman
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.
Nature genetics 2008;40(11):1329-34.
2008: Lindsey Kent; Sarah Bowdin; Gail A Kirby; Wendy N Cooper; Eamonn R Maher
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: Umasuthan Srirangalingam; Lisa Walker; Bernard Khoo; Fiona MacDonald; Daphne Gardner; Terence J Wilkin; Robert H Skelly; Emad George; David Spooner; John P Monson; Ashley B Grossman; Scott A Akker; Patrick J Pollard; Nick Plowman; Norbert Avril; Daniel M Berney; Jacky M Burrin; Rodney H Reznek; V K Ajith Kumar; Eamonn R Maher; Shern L Chew
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.
Clinical endocrinology 2008;69(4):587-96.
2008: Emma R Woodward; Christopher Ricketts; Pip Killick; Sophie Gad; Mark Morris; Fred Kavalier; Shirley V Hodgson; Sophie Giraud; Brigitte Bressac De-Paillerets; Cyril Chapman; Bernard Escudier; Farida Latif; Stéphane Richard; Eamonn R Maher
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: Christopher Ricketts; Emma R Woodward; Pip Killick; Mark Morris; Dewi Astuti; Farida Latif; Eamonn R Maher
Germline SDHB mutations and familial renal cell carcinoma.
Journal of the National Cancer Institute 2008;100(17):1260-2.
2008: A R Dallosso; Sunil Dolwani; N Jones; Sian Jones; James Colley; Julie Maynard; Shelley Idziaszczyk; Vikki Humphreys; J Arnold; A Donaldson; D Eccles; A Ellis; D G R Evans; I M Frayling; F J Hes; R S Houlston; Eamonn R Maher; M Nielsen; S Parry; E Tyler; Valentina Moskvina; Jeremy P Cheadle; Julian R Sampson
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: Caroline D E Margetts; Mark Morris; Dewi Astuti; Dean Gentle; Alberto Cascon; Fiona E McRonald; Daniel Catchpoole; Mercedes Robledo; Hartmut P H Neumann; Farida Latif; Eamonn R Maher
Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma.
Endocrine-related cancer 2008;15(3):777-86.
2008: Louise M Byrd; Andrew Shenton; Eamonn R Maher; Emma Woodward; Rachel Belk; Caron Lim; Fiona Lalloo; Anthony Howell; Gordon C Jayson; Gareth D Evans
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: Flavia Cerrato; Angela Sparago; Gaetano Verde; Agostina De Crescenzo; Valentina Citro; Maria Vittoria Cubellis; Maria Michela Rinaldi; Luigi Boccuto; Giovanni Neri; Cinzia Magnani; Paolo D'Angelo; Paola Collini; D Perotti; Gianfranco Sebastio; Eamonn R Maher; Andrea Riccio
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: Wendy N Cooper; R E Dickinson; Ashraf Dallol; Elvira V Grigorieva; T V Pavlova; Luke Hesson; Ivan Bieche; Massimo Broggini; Eamonn R Maher; E R Zabarovsky; Geoffrey J Clark; Farida Latif
Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer.
Oncogene 2008;27(12):1805-11.
2008: Mark Morris; Dean Gentle; mahera abdulrahman; N Clarke; Michael Brown; Takeshi Kishida; Masahiro Yao; Bin Tean Teh; Farida Latif; Eamonn R Maher
Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma.
British journal of cancer 2008;98(2):496-501.
2008: D Gareth Evans; Andrew Shenton; Emma Woodward; Fiona Lalloo; Anthony Howell; Eamonn R Maher
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.
2008: Julie Vogt; Benjamin J Harrison; Hayley Spearman; Judy Cossins; Sascha Vermeer; Lambert Naudin ten Cate; Neil V Morgan; David Beeson; Eamonn R Maher
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.
2007: Frederic Lirussi; Laurence Jonard; Véronique Gaston; Damien Sanlaville; R Frank Kooy; Birgitta Winnepenninckx; Eamonn R Maher; David R Fitzpatrick; Christine Gicquel; Marie-France Portnoï; Rémy Couderc; Marie-Paule Vazquez; Michel Bahuau
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
American journal of medical genetics. Part A 2007;143A(23):2796-803.
2007: Shagufta Khaliq; Aiysha Abid; Dominick R A White; Colin A Johnson; Muhammad Ismail; Ayesha Khan; Qasim Ayub; Salma Sultana; Eamonn R Maher; S Qasim Mehdi
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: Sarah Bowdin; Cathy Allen; Gail Kirby; Louise A Brueton; Masoud Afnan; Christopher L R Barratt; Jackson C Kirkman-Brown; Robert Harrison; Eamonn R Maher; William Reardon
A survey of assisted reproductive technology births and imprinting disorders.
Human reproduction (Oxford, England) 2007;22(12):3237-40.
2007: Paul Gissen; Eamonn R Maher
Cargos and genes: insights into vesicular transport from inherited human disease.
Journal of medical genetics 2007;44(9):545-55.
2007: Wendy N Cooper; Rebecca Curley; Fiona Macdonald; Eamonn R Maher
Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
Genomics 2007;89(5):613-7.
2007: Rebecca E Foster; mahera abdulrahman; Mark Morris; Elena Prigmore; Susan M Gribble; Beeling Ng; Dean Gentle; Steven Ready; Phil M T Weston; Michael S Wiesener; Takeshi Kishida; Masahiro Yao; Val Davison; Jose Luis Barbero; Carol Chu; Nigel P Carter; Farida Latif; Eamonn R Maher
Characterization of a 3;6 translocation associated with renal cell carcinoma.
Genes, chromosomes & cancer 2007;46(4):311-7.
2007: mahera abdulrahman; Esther N Maina; Mark Morris; Malgorzata Zatyka; Raju R Raval; Rosamonde E Banks; Michael S Wiesener; Frances M Richards; C M Johnson; Farida Latif; Eamonn R Maher
Identification of novel VHL targets that are associated with the development of renal cell carcinoma.
Oncogene 2007;26(11):1661-72.
2007: Emma R Woodward; Kerry Wall; Joan Forsyth; Fiona Macdonald; Eamonn R Maher
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
Brain : a journal of neurology 2007;130(Pt 3):836-42.
2007: Andrew Scott; Nicholas G Strouthidis; Anthony G Robson; Joan Forsyth; Eamonn R Maher; Patricio Schlottmann; Michel Michaelides
Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
American journal of ophthalmology 2007;143(2):346-8.
2007: Dominic R A White; Anuradha Ganesh; Darryl Nishimura; Eleanor Rattenberry; Shakeel Ahmed; Ursula M Smith; Shanaz Pasha; Sandy Raeburn; Richard C Trembath; Anna Rajab; Fiona Macdonald; Eyal Banin; Edwin M Stone; Colin A Johnson; Val C Sheffield; Eamonn R Maher
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: Kai Ren Ong; Emma R Woodward; Pip Killick; Caron Lim; Fiona Macdonald; Eamonn R Maher
Genotype-phenotype correlations in von Hippel-Lindau disease.
Human mutation 2007;28(2):143-9.
2007: Ashraf Dallol; Wendy N Cooper; Fahd Al-Mulla; Angelo Agathanggelou; Eamonn R Maher; Farida Latif
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: A Smith; Anthony Moran; M C Boyd; M Bulman; Andrew Shenton; L Smith; R Iddenden; Emma R Woodward; Fiona Lalloo; Eamonn R Maher; D G R Evans
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.
Journal of medical genetics 2007;44(1):10-15.
2006: Ruth E Krone; Andrew K Ewer; Timothy G Barrett; Robert J Moy; Shagaf Bakour; Eamonn R Maher; Shakila Thangaratinam; Philip Cox; Bill Martin; Khalid S Khan; Maurice Zeegers
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: Anne-Paule Gimenez-Roqueplo; Hendrik Lehnert; Massimo Mannelli; Hartmut Neumann; Giuseppe Opocher; Eamonn R Maher; Pierre-François Plouin
Phaeochromocytoma, new genes and screening strategies.
Clinical endocrinology 2006;65(6):699-705.
2006: Patrick J Pollard; Mona El-Bahrawy; Richard Poulsom; George Elia; Pip Killick; Gavin Kelly; Toby Hunt; Rosemary Jeffery; Pooja Seedhar; Julian Barwell; Farida Latif; Michael J Gleeson; Shirley V Hodgson; Gordon Stamp; Ian P M Tomlinson; Eamonn R Maher
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: Zoe Kemp; Luis Carvajal Carmona; Sarah Spain; Ella Barclay; Margaret Gorman; Lynn Martin; Emma Jaeger; Neil Brooks; D Timothy Bishop; Huw Thomas; Ian Tomlinson; Elli Papaemmanuil; Emily Webb; Gabrielle Sellick; Wendy Wood; Gareth Evans; Anneke Lucassen; Eamonn R Maher; richard Houlston
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: Paul Gissen; Louise Tee; Colin A Johnson; Emmanuelle Genin; Almuth Caliebe; David Chitayat; Carol L Clericuzio; Jonas Denecke; Maja Di Rocco; Björn Fischler; David FitzPatrick; Angels García-Cazorla; Delphine Guyot; Sébastien Jacquemont; Sibylle Koletzko; Bruno Leheup; Hanna Mandel; Maria Teresa Vieira Sanseverino; Roderick H J Houwen; Patrick J McKiernan; Deirdre A Kelly; Eamonn R Maher
Clinical and molecular genetic features of ARC syndrome.
Human genetics 2006;120(3):396-409.
2006: Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher
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: Amanda H Prowse; Sanjiv Manek; Rajesh Varma; Jinsong Liu; Andrew K Godwin; Eamonn R Maher; Ian P M Tomlinson; Stephen Kennedy
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: Neil V Morgan; Shawn K Westaway; Jenny E V Morton; Allison Gregory; Paul Gissen; Scott Sonek; Hakan Cangul; Jason Coryell; Natalie Canham; Nardo Nardocci; Giovanna Zorzi; Shanaz Pasha; Diana Rodriguez; Isabelle Desguerre; Ammar F Mubaidin; Enrico Bertini; Richard C Trembath; Alessandro Simonati; Carolyn Schanen; Colin A Johnson; Barbara Levinson; C Geoffrey Woods; Beth Wilmot; Patricia L Kramer; Jane Gitschier; Eamonn R Maher; Susan J Hayflick
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nature genetics 2006;38(7):752-4.
2006: Rachel A Craven; Sarah Hanrahan; Nick Totty; Patricia Harnden; Anthea J Stanley; Eamonn R Maher; Adrian L Harris; William S Trimble; Peter J Selby; Rosamonde E Banks
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: Emma R Woodward; Eamonn R Maher
Von Hippel-Lindau disease and endocrine tumour susceptibility.
Endocrine-related cancer 2006;13(2):415-25.
2006: Zoe Kemp; Luis Carvajal Carmona; Ella Barclay; Margaret Gorman; Lynn Martin; Wendy Wood; Andrew Rowan; Claire Donohue; Sarah Spain; Emma Jaeger; D Gareth Evans; Eamonn R Maher; D Timothy Bishop; Huw Thomas; richard Houlston; Ian Tomlinson
Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom.
Cancer research 2006;66(10):5003-6.
2006: Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
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: Mary-Alice Abbott; Katherine L Nathanson; Simon Nightingale; Eamonn R Maher; Robert M Greenstein
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: alastair sutcliffe; C J Peters; Sarah Bowdin; K Temple; William Reardon; L Wilson; J Clayton-Smith; Louise A Brueton; W Bannister; Eamonn R Maher
Assisted reproductive therapies and imprinting disorders--a preliminary British survey.
Human reproduction (Oxford, England) 2006;21(4):1009-11.
2006: Michel De Vos; Bruce E Hayward; Ruth S Charlton; Graham Taylor; Adam Woolf glaser; Susan Picton; Trevor R Cole; Eamonn R Maher; Carole M E McKeown; Jill R Mann; John R Yates; Diana Baralle; Julia Rankin; David T Bonthron; Eamonn Sheridan
PMS2 mutations in childhood cancer.
Journal of the National Cancer Institute 2006;98(5):358-61.
2006: Rosamonde E Banks; Prasanna Tirukonda; Claire Taylor; Nick Hornigold; Dewi Astuti; Dena Cohen; Eamonn R Maher; Anthea J Stanley; Patricia Harnden; Adrian Joyce; Margaret Knowles; Peter J Selby
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: Eamonn R Maher
Genetics of phaeochromocytoma.
British medical bulletin 2006;79-80():141-51.
2006: Antonis C Antoniou; Andrew Shenton; Eamonn R Maher; Emma Watson; Emma R Woodward; Fiona Lalloo; Douglas F Easton; D G R Evans
Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
Breast cancer research : BCR 2006;8(6):R72.
2006: Neil V Morgan; Shanaz Pasha; Colin A Johnson; John R Ainsworth; Robin A J Eady; Ban Dawood; Carole M E McKeown; Richard C Trembath; Jonathan Wilde; Steve P Watson; Eamonn R Maher
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.
2005: Ashraf Dallol; Angelo Agathanggelou; Stella Tommasi; Gerd P Pfeifer; Eamonn R Maher; Farida Latif
Involvement of the RASSF1A tumor suppressor gene in controlling cell migration.
Cancer research 2005;65(17):7653-9.
2005: Wendy N Cooper; Anita Luharia; Gail A Evans; Hussain Raza; Antonita C Haire; Richard G Grundy; Sarah Bowdin; Andrea Riccio; Gianfranco Sebastio; Jet Bliek; Paul N Schofield; Wolf Reik; Fiona Macdonald; Eamonn R Maher
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
European journal of human genetics : EJHG 2005;13(9):1025-32.
2005: Tim Forshew; Colin A Johnson; Shagufta Khaliq; Shanaz Pasha; Catherine Willis; Rashida Abbasi; Louise Tee; Ursula Smith; Richard C Trembath; S Qasim Mehdi; Anthony T Moore; Eamonn R Maher
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Human genetics 2005;117(5):452-9.
2005: N Diaz-Meyer; Y Yang; Sheila N J Sait; Eamonn R Maher; Michael J Higgins
Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2005;42(8):648-55.
2005: Tim Forshew; Shagufta Khaliq; Louise Tee; U Smith; Colin A Johnson; S Qasim Mehdi; Eamonn R Maher
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
Clinical genetics 2005;68(2):182-4.
2005: Esther N Maina; Mark Morris; Malgorzata Zatyka; Raju R Raval; Rosamonde E Banks; Frances M Richards; Claire M Johnson; Eamonn R Maher
Identification of novel VHL target genes and relationship to hypoxic response pathways.
Oncogene 2005;24(28):4549-58.
2005: Luke Hesson; Robin Wilson; Dion Morton; Clare Adams; Mike Walker; Eamonn R Maher; Farida Latif
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: Mark Morris; Dean Gentle; mahera abdulrahman; Esther N Maina; Kunal Gupta; Rosamonde E Banks; Michael S Wiesener; Takeshi Kishida; Masahiro Yao; Bin Tean Teh; Farida Latif; Eamonn R Maher
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: Neil D Ebenezer; Michel Michaelides; Sharon A Jenkins; Isabelle Audo; Andrew R Webster; Michael Cheetham; Andrew Stockman; Eamonn R Maher; John R Ainsworth; John R Yates; Keith Bradshaw; Graham Holder; Anthony T Moore; Alison J Hardcastle
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: Malgorzata Zatyka; M Priestley; E J Ladusans; A E Fryer; J Mason; Farida Latif; Eamonn R Maher
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).
Clinical genetics 2005;67(6):526-8.
2005: Laura S Schmidt; Michael L Nickerson; Michelle B Warren; Gladys Glenn; Jorge R Toro; Maria J Merino; Maria L Turner; Peter L Choyke; Nirmala Sharma; James Peterson; Patrick Morrison; Eamonn R Maher; McClellan Walther; Berton Zbar; W Marston Linehan
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: Paul Gissen; Colin A Johnson; Dean Gentle; Laurence D Hurst; Aidan J Doherty; Cahir J O'Kane; Deirdre A Kelly; Eamonn R Maher
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.
Human molecular genetics 2005;14(10):1261-70.
2005: Laura Baumber; Cristina Tufarelli; S Patel; P King; Colin A Johnson; Eamonn R Maher; Richard C Trembath
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: Dewi Astuti; Farida Latif; K Wagner; Dean Gentle; Wendy N Cooper; Daniel Catchpoole; Richard G Grundy; A C Ferguson-Smith; Eamonn R Maher
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: Eamonn R Maher
Imprinting and assisted reproductive technology.
Human molecular genetics 2005;14 Spec No 1():R133-8.
2005: Jalal Ahmed-Choudhury; Angelo Agathanggelou; Sarah L Fenton; Christopher Ricketts; Geoffrey J Clark; Eamonn R Maher; Farida Latif
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: C D E Margetts; Dewi Astuti; Dean Gentle; Wendy N Cooper; Alberto Cascon; Daniel Catchpoole; Mercedes Robledo; Hartmut P H Neumann; Farida Latif; Eamonn R Maher
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: D G R Evans; Andrew Shenton; S Sharif; Emma R Woodward; Fiona Lalloo; Eamonn R Maher
Non-random transmission of mutant alleles to female offspring in BRCA carriers.
Journal of medical genetics 2005;42(2):e6.
2005: Roisean E Ferguson; Helen P Carroll; Adrian Harris; Eamonn R Maher; Peter J Selby; Rosamonde E Banks
Housekeeping proteins: a preliminary study illustrating some limitations as useful references in protein expression studies.
Proteomics 2005;5(2):566-71.
2004: R E Dickinson; Ashraf Dallol; Ivan Bieche; Dietmar Krex; Dion Morton; Eamonn R Maher; Farida Latif
Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers.
British journal of cancer 2004;91(12):2071-8.
2004: Eamonn R Maher
Von Hippel-Lindau disease.
Current molecular medicine 2004;4(8):833-42.
2004: Clare N Lynex; Ian Carr; Jack P Leek; Rajgopal Achuthan; Simon Mitchell; Eamonn R Maher; C Geoffrey Woods; David T Bonthon; Alexander F Markham
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: Dewi Astuti; Mark Morris; Cecilia Krona; Frida Abel; Dean Gentle; Tommy Martinsson; Per Kogner; Hartmut P H Neumann; R Voutilainen; Charis Eng; P Rustin; Farida Latif; Eamonn R Maher
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.
British journal of cancer 2004;91(10):1835-41.
2004: Mark Morris; Esther N Maina; Neil V Morgan; Dean Gentle; Dewi Astuti; H Moch; Takeshi Kishida; Masahiro Yao; P Schraml; Frances M Richards; Farida Latif; Eamonn R Maher
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: Ashraf Dallol; Angelo Agathanggelou; Sarah L Fenton; Jalal Ahmed-Choudhury; Luke Hesson; Michele D Vos; Geoffrey J Clark; Julian Downward; Eamonn R Maher; Farida Latif
RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamics.
Cancer research 2004;64(12):4112-6.
2004: Michel Michaelides; Irene A Aligianis; John R Ainsworth; Peter Good; John D Mollon; Eamonn R Maher; Anthony T Moore; David Hunt
Progressive cone dystrophy associated with mutation in CNGB3.
Investigative ophthalmology & visual science 2004;45(6):1975-82.
2004: Justin K Lawrence; Eamonn R Maher; Richard Sheaves; Ashley B Grossman
Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG.
Hormones (Athens, Greece) 2004;3(2):127-31.
2004: Paul Gissen; Colin A Johnson; Neil V Morgan; Janneke M Stapelbroek; Tim Forshew; Wendy N Cooper; Patrick J McKiernan; Leo W J Klomp; Andrew A M Morris; James Wraith; Patricia McClean; Sally A Lynch; Richard John Thompson; Bryan Lo; Oliver W Quarrell; Maja Di Rocco; Richard C Trembath; Hanna Mandel; S Wali; Fiona E Karet; Alex S Knisely; Roderick H J Houwen; Deirdre A Kelly; Eamonn R Maher
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: Luke Hesson; Ivan Bièche; Dietmar Krex; Emmanuelle Criniere; Khê Hoang-Xuan; Eamonn R Maher; Farida Latif
Frequent epigenetic inactivation of RASSF1A and BLU genes located within the critical 3p21.3 region in gliomas.
Oncogene 2004;23(13):2408-19.
2004: Rajesh Varma; Terrance Rollason; Janesh K Gupta; Eamonn R Maher
Endometriosis and the neoplastic process.
Reproduction (Cambridge, England) 2004;127(3):293-304.
2004: Samantha Johnson; Michel Michaelides; Irene A Aligianis; John R Ainsworth; John D Mollon; Eamonn R Maher; Anthony T Moore; David Hunt
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Journal of medical genetics 2004;41(2):e20.
2004: Dewi Astuti; Nancy Fernandes da Silva; Ashraf Dallol; Dean Gentle; Tommy Martinsson; Per Kogner; Richard G Grundy; Takeshi Kishida; Masahiro Yao; Farida Latif; Eamonn R Maher
SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma.
British journal of cancer 2004;90(2):515-21.
2004: Adele Murrell; Sarah Heeson; Wendy N Cooper; Eleanor Douglas; Sophia Apostolidou; Gudrun E Moore; Eamonn R Maher; Wolf Reik
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.
2004: Sarah L Fenton; Ashraf Dallol; Angelo Agathanggelou; Luke Hesson; Jalal Ahmed-Choudhury; Shairaz Baksh; Claude Sardet; Reinhard Dammann; John D Minna; Julian Downward; Eamonn R Maher; Farida Latif
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.
2003: Dewi Astuti; Niki Hart-Holden; Farida Latif; Fiona Lalloo; Graeme C M Black; Caron Lim; Anthony Moran; Ashley B Grossman; Shirley V Hodgson; Anthony Freemont; Richard Ramsden; Charis Eng; D G R Evans; Eamonn R Maher
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Clinical endocrinology 2003;59(6):728-33.
2003: Eamonn R Maher; Masoud Afnan; Christopher L R Barratt
Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?
Human reproduction (Oxford, England) 2003;18(12):2508-11.
2003: Jindong Chen; Weng-Onn Lui; Michele D Vos; Geoffrey J Clark; Masayuki Takahashi; Jacqueline Schoumans; Sok Kean Khoo; David Petillo; Todd T Lavery; Jun Sugimura; Dewi Astuti; Chun Zhang; Susumu Kagawa; Eamonn R Maher; Catharina Larsson; ARTHUR S ALBERTS; Hiro-Omi Kanayama; Bin Tean Teh
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: Nancy Fernandes da Silva; Dean Gentle; Luke Hesson; Dion G Morton; Farida Latif; Eamonn R Maher
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: N Diaz-Meyer; CD Day; K Khatod; Eamonn R Maher; W Cooper; Wolf Reik; C Junien; G Graham; E Algar; V M Der Kaloustian; Michael J Higgins
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2003;40(11):797-801.
2003: Michel Michaelides; Irene A Aligianis; Graham Holder; Matthew P Simunovic; John D Mollon; Eamonn R Maher; David Hunt; Anthony T Moore
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: Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganeshwaran H Mochida; Raoul Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar F Mubaidin; Christopher Walsh; Emma Roberts; C Geoffrey Woods
Protein-truncating mutations in ASPM cause variable reduction in brain size.
American journal of human genetics 2003;73(5):1170-7.
2003: Mark Morris; Luke Hesson; Kate J Wagner; Neil V Morgan; Dewi Astuti; Robert D Lees; Wendy N Cooper; JouAnn Lee; Dean Gentle; Fiona Macdonald; Takeshi Kishida; Richard G Grundy; Masahiro Yao; Farida Latif; Eamonn R Maher
Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma.
Oncogene 2003;22(43):6794-801.
2003: Angelo Agathanggelou; Ivan Bièche; Jalal Ahmed-Choudhury; Barbara Nicke; Reinhard Dammann; Shairaz Baksh; Boning Gao; John D Minna; Julian Downward; Eamonn R Maher; Farida Latif
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: Ashraf Dallol; Dietmar Krex; Luke Hesson; Charis Eng; Eamonn R Maher; Farida Latif
Frequent epigenetic inactivation of the SLIT2 gene in gliomas.
Oncogene 2003;22(29):4611-6.
2003: Julian R Sampson; Sunil Dolwani; Sian Jones; Diana Eccles; Anthony Ellis; D G R Evans; Ian M Frayling; Sheila Jordan; Eamonn R Maher; Tony Mak; Julie Maynard; Francesca Pigatto; Joan Shaw; Jeremy P Cheadle
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
Lancet 2003;362(9377):39-41.
2003: Neil V Morgan; Chiara Bacchelli; Paul Gissen; J Morton; Giovanni Battista Ferrero; Margherita Silengo; P Labrune; I Casteels; C Hall; Phillip Cox; Deirdre A Kelly; Richard C Trembath; Peter J Scambler; Eamonn R Maher; Frances R Goodman; Colin A Johnson
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
Journal of medical genetics 2003;40(6):431-5.
2003: Angelo Agathanggelou; Ashraf Dallol; Sabine Zöchbauer-Müller; Catherine Morrissey; Sofia Honorio; Luke Hesson; Tommy Martinsson; Kwun M Fong; Michael J Kuo; Po Wing Yuen; Eamonn R Maher; John D Minna; Farida Latif
Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.
Oncogene 2003;22(10):1580-8.
2003: Ashraf Dallol; Dion Morton; Eamonn R Maher; Farida Latif
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: Luke Hesson; Ashraf Dallol; John D Minna; Eamonn R Maher; Farida Latif
NORE1A, a homologue of RASSF1A tumour suppressor gene is inactivated in human cancers.
Oncogene 2003;22(6):947-54.
2003: M Ashwin Reddy; Peter J Francis; Vanita Berry; Keith Bradshaw; Reshma J Patel; Eamonn R Maher; R Kumar; Shomi S Bhattacharya; Anthony T Moore
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: Sofia Honorio; Angelo Agathanggelou; Nicolas Wernert; Marcus Rothe; Eamonn R Maher; Farida Latif
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: Sofia Honorio; Angelo Agathanggelou; Marcus Schuermann; Wulf Pankow; Paolo Viacava; Eamonn R Maher; Farida Latif
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: Eamonn R Maher; L A Brueton; Sarah Bowdin; Anita Luharia; W Cooper; TR Cole; Fiona Macdonald; J R Sampson; Christopher L R Barratt; Wolf Reik; MM Hawkins
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).
Journal of medical genetics 2003;40(1):62-4.
2002: Kate J Wagner; Wendy N Cooper; Richard G Grundy; Germaine Caldwell; Carolyn Jones; Roy B Wadey; Dion Morton; Paul N Schofield; Wolf Reik; Farida Latif; Eamonn R Maher
Frequent RASSF1A tumour suppressor gene promoter methylation in Wilms' tumour and colorectal cancer.
Oncogene 2002;21(47):7277-82.
2002: Ashraf Dallol; Nancy Fernandes da Silva; Paolo Viacava; John D Minna; Ivan Bieche; Eamonn R Maher; Farida Latif
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: Neil V Morgan; Paul Gissen; Saghira Malik Sharif; Laura Baumber; Joan Sutherland; Deirdre A Kelly; Kingi Aminu; Christopher P Bennett; C Geoffrey Woods; Robert F Mueller; Richard C Trembath; Eamonn R Maher; Colin A Johnson
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Human genetics 2002;111(4-5):456-61.
2002: Eamonn R Maher; Charis Eng
The pressure rises: update on the genetics of phaeochromocytoma.
Human molecular genetics 2002;11(20):2347-54.
2002: Volker Endris; Birgit Wogatzky; Uwe Leimer; Dusan Bartsch; Malgorzata Zatyka; Farida Latif; Eamonn R Maher; Gholamali Tariverdian; Stefan Kirsch; Dieter Karch; Gudrun A Rappold
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: Jane Green; Mary O'Driscoll; Adam Barnes; Eamonn R Maher; Peter Bridge; Keith Shields; Patrick S Parfrey
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: Irene A Aligianis; Tim Forshew; Samantha Johnson; Michel Michaelides; Colin A Johnson; Richard C Trembath; David Hunt; Anthony T Moore; Eamonn R Maher
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: RP Hogg; Sofia Honorio; Alonso Martinez; Angelo Agathanggelou; Ashraf Dallol; P Fullwood; R Weichselbaum; Michael J Kuo; Eamonn R Maher; Farida Latif
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: Malgorzata Zatyka; Catherine Morrissey; Igor Kuzmin; Michael I Lerman; Farida Latif; Frances M Richards; Eamonn R Maher
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.
Journal of medical genetics 2002;39(7):463-72.
2002: Malgorzata Zatyka; Nancy Fernandes da Silva; Steven C Clifford; Mark Morris; Michael S Wiesener; Kai-Uwe Eckardt; richard Houlston; Frances M Richards; Farida Latif; Eamonn R Maher
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: Stefano J Mandriota; Kevin J Turner; David R Davies; Paul G Murray; Neil V Morgan; Heidi M Sowter; Charles C Wykoff; Eamonn R Maher; Adrian L Harris; Peter J Ratcliffe; Patrick H Maxwell
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: Azra J Alvi; R Hogg; Janet S Rader; Michael J Kuo; Eamonn R Maher; Farida Latif
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: Michael S Wiesener; Melchior Seyfarth; Christina Warnecke; Jan Steffen Jürgensen; Christian Rosenberger; Neil V Morgan; Eamonn R Maher; Ulrich Frei; Kai-Uwe Eckardt
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: Ashraf Dallol; Eva Forgacs; Alonso Martinez; Yoshitaka Sekido; Rosemary Walker; Takeshi Kishida; Pamela Rabbitts; Eamonn R Maher; John D Minna; Farida Latif
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: Timothy R Porter; Frances M Richards; richard Houlston; D G R Evans; Janusz A Jankowski; Fiona Macdonald; C norbury; Stewart J Payne; Samantha A Fisher; Ian Tomlinson; Eamonn R Maher
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.
Oncogene 2002;21(12):1928-33.
2002: Peter J Francis; Vanita Berry; Alison J Hardcastle; Eamonn R Maher; Anthony T Moore; Shomi S Bhattacharya
A locus for isolated cataract on human Xp.
Journal of medical genetics 2002;39(2):105-9.
2001: Dewi Astuti; Angelo Agathanggelou; Sofia Honorio; Ashraf Dallol; Tommy Martinsson; Per Kogner; Carole Cummins; Hartmut P H Neumann; R Voutilainen; Patricia Dahia; Charis Eng; Eamonn R Maher; Farida Latif
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours.
Oncogene 2001;20(51):7573-7.
2001: Lee Parry; Julie Maynard; A Patel; S C Clifford; C Morrissey; Eamonn R Maher; Jeremy P Cheadle; Julian R Sampson
Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas.
British journal of cancer 2001;85(8):1226-30.
2001: Catherine Morrissey; Alonso Martinez; Malgorzata Zatyka; Angelo Agathanggelou; Sofia Honorio; Dewi Astuti; Neil V Morgan; H Moch; Frances M Richards; Takeshi Kishida; Masahiro Yao; P Schraml; Farida Latif; Eamonn R Maher
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: Alonso Martinez; R A Walker; J A Shaw; Sheila Dearing; Eamonn R Maher; Farida Latif
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: Steven C Clifford; Dewi Astuti; L Hooper; Patrick H Maxwell; Peter J Ratcliffe; Eamonn R Maher
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: Azra J Alvi; Janet S Rader; Massimo Broggini; Farida Latif; Eamonn R Maher
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: Michael S Wiesener; Philine Münchenhagen; I Berger; Neil V Morgan; Jan Roigas; A Schwiertz; Jan Steffen Jürgensen; G Gruber; Patrick H Maxwell; S A Löning; Ulrich Frei; Eamonn R Maher; Hermann-Josef Gröne; Kai-Uwe Eckardt
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: Dewi Astuti; Farida Latif; Ashraf Dallol; Patricia Dahia; F Douglas; E George; Filip Sköldberg; Eystein S Husebye; Charis Eng; Eamonn R Maher
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: Steven C Clifford; Matthew E Cockman; AC Smallwood; David R Mole; Emma R Woodward; Patrick H Maxwell; Peter J Ratcliffe; Eamonn R Maher
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: Dewi Astuti; F Douglas; T W J Lennard; I A Aligianis; Emma R Woodward; D G R Evans; Charis Eng; Farida Latif; Eamonn R Maher
Germline SDHD mutation in familial phaeochromocytoma.
Lancet 2001;357(9263):1181-2.
2001: Paul N Schofield; Johanna A Joyce; W K Lam; Valerie Grandjean; Anne C Ferguson-Smith; Wolf Reik; Eamonn R Maher
Genomic imprinting and cancer; new paradigms in the genetics of neoplasia.
Toxicology letters 2001;120(1-3):151-60.
2001: Angelo Agathanggelou; Sofia Honorio; Donia P Macartney; Alonso Martinez; Ashraf Dallol; J Rader; P Fullwood; A Chauhan; R Walker; J A Shaw; S Hosoe; Michael I Lerman; John D Minna; Eamonn R Maher; Farida Latif
Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours.
Oncogene 2001;20(12):1509-18.
2001: L Verma; T R Porter; Frances M Richards; M H Rajpar; D G R Evans; Fiona Macdonald; Eamonn R Maher
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: Steven C Clifford; Eamonn R Maher
Von Hippel-Lindau disease: clinical and molecular perspectives.
Advances in cancer research 2001;82():85-105.
2000: J R Engel; AC Smallwood; A Harper; Michael J Higgins; M Oshimura; Wolf Reik; Paul N Schofield; Eamonn R Maher
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Journal of medical genetics 2000;37(12):921-6.
2000: Matthew E Cockman; Norma Masson; David R Mole; Panu M Jaakkola; GW Chang; Steven C Clifford; Eamonn R Maher; Christopher W Pugh; Peter J Ratcliffe; Patrick H Maxwell
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: Elaine K Green; M D Priestley; J Waters; C Maliszewska; Farida Latif; Eamonn R Maher
Detailed mapping of a congenital heart disease gene in chromosome 3p25.
Journal of medical genetics 2000;37(8):581-7.
2000: Alonso Martinez; P Fullwood; K Kondo; Takeshi Kishida; Masahiro Yao; Eamonn R Maher; Farida Latif
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: Emma R Woodward; Alexander Buchberger; Steven C Clifford; L D Hurst; Nabeel A Affara; Eamonn R Maher
Comparative sequence analysis of the VHL tumor suppressor gene.
Genomics 2000;65(3):253-65.
2000: Emma R Woodward; Steven C Clifford; Dewi Astuti; Nabeel A Affara; Eamonn R Maher
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: Daniel Catchpoole; A V Smallwood; Johanna A Joyce; A Murrell; W Lam; T Tang; D Munroe; Wolf Reik; Paul N Schofield; Eamonn R Maher
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: Eamonn R Maher; Wolf Reik
Beckwith-Wiedemann syndrome: imprinting in clusters revisited.
The Journal of clinical investigation 2000;105(3):247-52.
1999: Carlos Caldas; Fátima Carneiro; H T Lynch; J Yokota; G L Wiesner; S M Powell; Frank R Lewis; David Huntsman; P D Pharoah; Janusz A Jankowski; PM MacLeod; H Vogelsang; G Keller; K G Park; Frances M Richards; Eamonn R Maher; Simon A Gayther; Carla Oliveira; Nicola Grehan; D Wight; Raquel Seruca; franco roviello; Bruce A J Ponder; C E Jackson
Familial gastric cancer: overview and guidelines for management.
Journal of medical genetics 1999;36(12):873-80.
1999: P Fullwood; Sergio Marchini; Janet S Rader; Alonso Martinez; Donia P Macartney; Massimo Broggini; Cristina Morelli; Giuseppe Barbanti-Brodano; Eamonn R Maher; Farida Latif
Detailed genetic and physical mapping of tumor suppressor loci on chromosome 3p in ovarian cancer.
Cancer research 1999;59(18):4662-7.
1999: L Verma; Michael F Kane; C Brassett; James Schmeits; D G R Evans; Richard D Kolodner; Eamonn R Maher
Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer.
Journal of medical genetics 1999;36(9):678-82.
1999: Steven C Clifford; S Walsh; K Hewson; Elaine K Green; A Brinke; Peter M Green; F Gianelli; Charis Eng; Eamonn R Maher
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: NJ Smilinich; CD Day; Galina V Fitzpatrick; G M Caldwell; Amy C Lossie; Paul Roy Cooper; AC Smallwood; Johanna A Joyce; Paul N Schofield; Wolf Reik; Robert D Nicholls; R Weksberg; Daniel J Driscoll; Eamonn R Maher; TB Shows; Michael J Higgins
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: W W Lam; Izuho Hatada; S Ohishi; Tsunehiro Mukai; Johanna A Joyce; TR Cole; D Donnai; Wolf Reik; Paul N Schofield; Eamonn R Maher
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: Patrick H Maxwell; Michael S Wiesener; GW Chang; Steven C Clifford; EC Vaux; Matthew E Cockman; Charles C Wykoff; Christopher W Pugh; Eamonn R Maher; Peter J Ratcliffe
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
Nature 1999;399(6733):271-5.
1999: Frances M Richards; S A McKee; M H Rajpar; TR Cole; D G R Evans; Janusz A Jankowski; Carole M E McKeown; D S Sanders; Eamonn R Maher
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.
Human molecular genetics 1999;8(4):607-10.
1999: AR Webster; Eamonn R Maher; Anthony T Moore
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.
Archives of ophthalmology 1999;117(3):371-8.
1999: AR Webster; Eamonn R Maher; Alan C Bird; Z J Gregor; Anthony T Moore
A clinical and molecular genetic analysis of solitary ocular angioma.
Ophthalmology 1999;106(3):623-9.
1999: N J Froggatt; J Green; C Brassett; D G Evans; Tim BISHOP; R Kolodner; Eamonn R Maher
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: AR Webster; Frances M Richards; F E MacRonald; Anthony T Moore; Eamonn R Maher
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: Steven C Clifford; A H Prowse; Nabeel A Affara; C H Buys; Eamonn R Maher
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: M Paulsen; K R Davies; Lucy Bowden; A J Villar; O Franck; M Fuermann; Wendy Dean; T F Moore; N Rodrigues; K E Davies; RJ Hu; Andrew P Feinberg; Eamonn R Maher; Wolf Reik; Jörn Walter
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: Frances M Richards; AR Webster; R McMahon; Emma R Woodward; S Rose; Eamonn R Maher
Molecular genetic analysis of von Hippel-Lindau disease.
Journal of internal medicine 1998;243(6):527-33.
1998: Steven C Clifford; K Czapla; Frances M Richards; D J O'Donoghue; Eamonn R Maher
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: Eamonn R Maher; William G Kaelin
von Hippel-Lindau disease.
Medicine 1997;76(6):381-91.
1997: AR Webster; R B Fisher; L Ginsberg; Eamonn R Maher
Independent segregation of von Hippel-Lindau disease and cerebral cavernomas.
Journal of neurology, neurosurgery, and psychiatry 1997;63(5):665-8.
1997: R M Irving; T Harada; David A Moffat; David G Hardy; J L Whittaker; J H Xuereb; Eamonn R Maher
Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma.
The American journal of otology 1997;18(6):754-60.
1997: Johanna A Joyce; W K Lam; Daniel Catchpoole; P Jenks; Wolf Reik; Eamonn R Maher; Paul N Schofield
Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
Human molecular genetics 1997;6(9):1543-8.
1997: Wolf Reik; Eamonn R Maher
Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome.
Trends in genetics : TIG 1997;13(8):330-4.
1997: Emma R Woodward; Charis Eng; R McMahon; R Voutilainen; Nabeel A Affara; bruce ponder; Eamonn R Maher
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Human molecular genetics 1997;6(7):1051-6.
1997: Daniel Catchpoole; W W Lam; D Valler; I K Temple; Johanna A Joyce; Wolf Reik; Paul N Schofield; Eamonn R Maher
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
Journal of medical genetics 1997;34(5):353-9.
1997: R M Irving; David A Moffat; David G Hardy; David Barton; J H Xuereb; F J Holland; Eamonn R Maher
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: A H Prowse; AR Webster; Frances M Richards; Stéphane Richard; Sylviane Olschwang; F Resche; Nabeel A Affara; Eamonn R Maher
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
American journal of human genetics 1997;60(4):765-71.
1996: C Brassett; Johanna A Joyce; N J Froggatt; G Williams; D Furniss; S Walsh; R Miller; D G Evans; Eamonn R Maher
Microsatellite instability in early onset and familial colorectal cancer.
Journal of medical genetics 1996;33(12):981-5.
1996: K W Brown; A J Villar; W Bickmore; J Clayton-Smith; Daniel Catchpoole; Eamonn R Maher; Wolf Reik
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: R J Scott; N J Froggatt; R C Trembath; D G Evans; S V Hodgson; Eamonn R Maher
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.
Human molecular genetics 1996;5(12):1921-4.
1996: Eamonn R Maher
Inherited renal cell carcinoma.
British journal of urology 1996;78(4):542-5.
1996: N J Froggatt; C Brassett; D J Koch; D G Evans; S V Hodgson; Bruce A J Ponder; Eamonn R Maher
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Journal of medical genetics 1996;33(9):726-30.
1996: Frances M Richards; Paul N Schofield; S Fleming; Eamonn R Maher
Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.
Human molecular genetics 1996;5(5):639-44.
1996: T Harada; R M Irving; John H Xuereb; David Barton; David G Hardy; David A Moffat; Eamonn R Maher
Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.
Journal of neurosurgery 1996;84(5):847-51.
1996: Eamonn R Maher; AR Webster; Frances M Richards; J S Green; P A Crossey; S J Payne; Anthony T Moore
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
Journal of medical genetics 1996;33(4):328-32.
1996: B Zbar; T Kishida; F Chen; L Schmidt; Eamonn R Maher; Frances M Richards; P A Crossey; AR Webster; Nabeel A Affara; Malcolm A Ferguson-Smith; H Brauch; D Glavac; Hartmut P H Neumann; S Tisherman; J J Mulvihill; D J Gross; T Shuin; J Whaley; BR Seizinger; N Kley; Sylviane Olschwang; Cécile Boisson; Stéphane Richard; C H Lips; M Lerman
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.
1996: N J Froggatt; Johanna A Joyce; D G Evans; P W Lunt; D J Koch; bruce ponder; Eamonn R Maher
MSH2 sequence variations and inherited colorectal cancer susceptibility.
European journal of cancer (Oxford, England : 1990) 1996;32A(1):178.
1995: Johanna A Joyce; N J Froggatt; R Davies; D G Evans; R Trembath; David Barton; Eamonn R Maher
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: K Foster; R J Osborne; R A Huddart; Nabeel A Affara; Malcolm A Ferguson-Smith; Eamonn R Maher
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: Frances M Richards; S J Payne; B Zbar; Nabeel A Affara; Malcolm A Ferguson-Smith; Eamonn R Maher
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.
Human molecular genetics 1995;4(11):2139-43.
1995: Hartmut P H Neumann; Charis Eng; Lois M Mulligan; D Glavac; Ingeborg Zäuner; B A Ponder; P A Crossey; Eamonn R Maher; H Brauch
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: Eamonn R Maher; AR Webster; Anthony T Moore
Clinical features and molecular genetics of Von Hippel-Lindau disease.
Ophthalmic genetics 1995;16(3):79-84.
1995: N J Froggatt; Johanna A Joyce; R Davies; D Gareth; R Evans; Bruce A J Ponder; David Barton; Eamonn R Maher
A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome.
Lancet 1995;345(8951):727.
1995: R M Irving; David A Moffat; Eamonn R Maher
Genetics of familial and non-familial skull base tumours.
Clinical otolaryngology and allied sciences 1995;20(1):5-11.
1994: R E Slatter; M Elliott; K Welham; M Carrera; P N Schofield; David Barton; Eamonn R Maher
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Journal of medical genetics 1994;31(10):749-53.
1994: Wolf Reik; K W Brown; R E Slatter; P Sartori; M Elliott; Eamonn R Maher
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
Human molecular genetics 1994;3(8):1297-301.
1994: M Elliott; R Bayly; T Cole; I K Temple; Eamonn R Maher
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.
Clinical genetics 1994;46(2):168-74.
1994: M Elliott; Eamonn R Maher
Beckwith-Wiedemann syndrome.
Journal of medical genetics 1994;31(7):560-4.
1994: K Foster; P A Crossey; P Cairns; J W Hetherington; Frances M Richards; Michael Jones; E Bentley; Nabeel A Affara; Malcolm A Ferguson-Smith; Eamonn R Maher
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: R M Irving; David A Moffat; David G Hardy; David Barton; John H Xuereb; Eamonn R Maher
Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.
Human molecular genetics 1994;3(2):347-50.
1994: Eamonn R Maher
Von Hippel-Lindau disease.
European journal of cancer (Oxford, England : 1990) 1994;30A(13):1987-90.
1993: R M Irving; David A Moffat; David G Hardy; David Barton; John H Xuereb; Eamonn R Maher
Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma.
Archives of otolaryngology--head & neck surgery 1993;119(11):1222-8.
1993: Frances M Richards; F Latif; M I Lerman; B Zbar; Eamonn R Maher
TaqI and PstI RFLPs in the von Hippel-Lindau disease gene (VHL).
Human molecular genetics 1993;2(10):1750.
1993: M E Phipps; Eamonn R Maher; Nabeel A Affara; F Latif; M A Leversha; M E Ferguson-Smith; Y Nakamura; M Lerman; B Zbar; Malcolm A Ferguson-Smith
Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).
Human genetics 1993;92(1):18-22.
1993: Eamonn R Maher; David Barton; R Slatter; D J Koch; Michael Jones; H Nagase; S J Payne; S J Charles; Anthony T Moore; Y Nakamura
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: P A Crossey; Eamonn R Maher; Michael Jones; Frances M Richards; F Latif; M E Phipps; M Lush; K Foster; K Tory; J S Green
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: Frances M Richards; Eamonn R Maher; F Latif; M E Phipps; K Tory; M Lush; P A Crossey; B Oostra; P Enblad; K H Gustavson
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.
Journal of medical genetics 1993;30(2):104-7.
1992: Eamonn R Maher; Anthony T Moore
Von Hippel-Lindau disease.
The British journal of ophthalmology 1992;76(12):743-5.
1992: Eamonn R Maher; E Bentley; S J Payne; F Latif; Frances M Richards; M Chiano; S Hosoe; J R W Yates; M Linehan; David Barton
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
Journal of medical genetics 1992;29(12):902-5.
1992: Anthony T Moore; Eamonn R Maher; D J Koch; S J Charles
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: Eamonn R Maher; B Morson; R Beach; S V Hodgson
Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor).
Cancer 1992;69(8):2049-51.
1992: T L Blamires; Eamonn R Maher
Choroid plexus papilloma. A new presentation of von Hippel-Lindau (VHL) disease.
Eye (London, England) 1992;6 ( Pt 1)():90-2.
1991: Eamonn R Maher; Lionel Willatt; G Cuthbert; C Chapman; S V Hodgson
Three cases of 16q duplication.
Journal of medical genetics 1991;28(11):801-2.
1991: Eamonn R Maher; E Bentley; J R W Yates; F Latif; M Lerman; B Zbar; Nabeel A Affara; Malcolm A Ferguson-Smith
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: Eamonn R Maher; L Iselius; J R W Yates; M Littler; C Benjamin; R Harris; J Sampson; A Williams; Malcolm A Ferguson-Smith; N Morton
Von Hippel-Lindau disease: a genetic study.
Journal of medical genetics 1991;28(7):443-7.
1991: Anthony T Moore; Eamonn R Maher; P Rosen; Z Gregor; A C Bird
Ophthalmological screening for von Hippel-Lindau disease.
Eye (London, England) 1991;5 ( Pt 6)():723-8.
1990: Eamonn R Maher; E Bentley; J R W Yates; David Barton; A Jennings; I W Fellows; M A Ponder; Bruce A J Ponder; C Benjamin; R Harris
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: Eamonn R Maher; J R Yates; R Harries; C Benjamin; R Harris; Anthony T Moore; Malcolm A Ferguson-Smith
Clinical features and natural history of von Hippel-Lindau disease.
The Quarterly journal of medicine 1990;77(283):1151-63.
1990: Eamonn R Maher; J R Yates; M A Ferguson-Smith
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.