E R Maher

Summary

Affiliation: University of Birmingham
Country: UK

Publications

  1. ncbi request reprint Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
    Derek Lim
    Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK
    Hum Reprod 24:741-7. 2009
  2. pmc Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    PLoS Genet 5:e1000423. 2009
  3. pmc SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Br J Cancer 90:515-21. 2004
  4. pmc Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour
    D Astuti
    Department of Paediatrics and Child Health, Section of Medical and Molecular Genetics, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Br J Cancer 92:1574-80. 2005
  5. pmc Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma
    M R Morris
    Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham B15 2TT, UK
    Br J Cancer 98:496-501. 2008
  6. pmc Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
    Neil V Morgan
    Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom
    PLoS Genet 6:e1000833. 2010
  7. pmc Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Mol Vis 16:650-64. 2010
  8. pmc Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Br J Cancer 91:1835-41. 2004
  9. pmc Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
    Dewi Astuti
    Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK
    Endocr Relat Cancer 18:73-83. 2011
  10. pmc Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Mol Vis 15:1014-9. 2009

Detail Information

Publications139 found, 100 shown here

  1. ncbi request reprint Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
    Derek Lim
    Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK
    Hum Reprod 24:741-7. 2009
    ..5 imprinting control regions (IC1 and IC2). Previously, we and other reported an association between sporadic BWS and assisted reproductive technologies (ARTs)...
  2. pmc Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    PLoS Genet 5:e1000423. 2009
    ..These observations are consistent with the hypothesis that NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans...
  3. pmc SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Br J Cancer 90:515-21. 2004
    ..However, epigenetic inactivation of SLIT2 is less frequent than RASSF1A in the tumour types analysed...
  4. pmc Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour
    D Astuti
    Department of Paediatrics and Child Health, Section of Medical and Molecular Genetics, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Br J Cancer 92:1574-80. 2005
    ..GTL2 promoter and intergenic DMR hypermethylation is associated with the loss of GTL2 expression and this may contribute to tumorigenesis in a subset of human cancers...
  5. pmc Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma
    M R Morris
    Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham B15 2TT, UK
    Br J Cancer 98:496-501. 2008
    ....
  6. pmc Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
    Neil V Morgan
    Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom
    PLoS Genet 6:e1000833. 2010
    ..Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder...
  7. pmc Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Mol Vis 16:650-64. 2010
    ..To define the phenotype and elucidate the molecular basis for an autosomal recessively inherited optic atrophy and auditory neuropathy in a consanguineous family with two affected children...
  8. pmc Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Br J Cancer 91:1835-41. 2004
    ....
  9. pmc Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
    Dewi Astuti
    Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK
    Endocr Relat Cancer 18:73-83. 2011
    ..No confirmed pathogenic mutations were detected suggesting that mutations in these genes are not a frequent cause of inherited phaeochromocytoma or RCC...
  10. pmc Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Mol Vis 15:1014-9. 2009
    ..To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children...
  11. doi request reprint Genomics and epigenomics of renal cell carcinoma
    Eamonn R Maher
    Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK
    Semin Cancer Biol 23:10-7. 2013
    ....
  12. ncbi request reprint Gene expression and protein array studies of folliculin-regulated pathways
    Anne Reiman
    Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Birmingham, UK
    Anticancer Res 32:4663-70. 2012
    ..These findings identify novel pathways and targets linked to folliculin tumour suppressor activity...
  13. pmc A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
    Mol Genet Metab 99:325-8. 2010
    ..194dupG) at a mononucleotide repeat in exon 1 predicted to result in a truncated protein (p.Cys66LeufsX99). This report extends current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum...
  14. pmc CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma
    Fiona E McRonald
    Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham, UK
    Mol Cancer 8:31. 2009
    ....
  15. pmc A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancers
    Thomas Dunwell
    Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B152TT, UK
    Mol Cancer 9:44. 2010
    ..High throughput screens are required to identify epigenetic markers that can be useful for diagnostic and prognostic purposes across malignancies...
  16. pmc The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias
    Luke B Hesson
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, Medical School, University of Birmingham, Edgbaston, B15 2TT, UK
    Mol Cancer 8:42. 2009
    ..We also determined the methylation status of CpG islands associated with RASSF1-10 in a series of childhood acute lymphocytic leukaemias (ALL) and normal blood and bone marrow samples...
  17. pmc Identification of 5 novel genes methylated in breast and other epithelial cancers
    Victoria K Hill
    Department of Medical and Molecular Genetics, University of Birmingham, UK
    Mol Cancer 9:51. 2010
    ..We utilized one such recently developed approach, MIRA (methylated-CpG island recovery assay) combined with CpG island arrays to identify novel genes that are epigenetically inactivated in breast cancer...
  18. pmc Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics
    Mark R Morris
    Renal Molecular Oncology Group, Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK
    Genome Med 2:59. 2010
    ..Increased understanding of RCC epigenetics provides new insights into the molecular pathogenesis of RCC and opportunities for developing novel strategies for the diagnosis, prognosis and management of RCC...
  19. pmc Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    CR UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, University of Cambridge, Cambridge, CB1 8RN, UK
    Breast Cancer Res 8:R72. 2006
    ..However, their effects among BRCA1 and BRCA2 mutation carriers is still under debate. We used retrospective data on BRCA1 and BRCA2 mutation carriers from the UK to assess the effects of parity-related variables on breast cancer risk...
  20. pmc 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
    Clare N Lynex
    Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James s University Hospital, Leeds, UK
    BMC Neurol 4:20. 2004
    ..We recently described the mapping of a recessive spastic CP locus to a 5 cM chromosomal region located at 2q24-31.1, in rare consanguineous families...
  21. pmc 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
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
    BMC Cancer 8:155. 2008
    ..However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation...
  22. doi request reprint Genetics of familial renal cancers
    Eamonn R Maher
    University of Birmingham Centre for Rare Diseases and Personalised Medicine and Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK
    Nephron Exp Nephrol 118:e21-6. 2011
    ..The identification of molecular mechanisms of carcinogenesis in inherited RCC syndromes should lead to novel approaches to personalized therapeutics...
  23. ncbi request reprint Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?
    Eamonn R Maher
    Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham, UK
    Hum Reprod 18:2508-11. 2003
    ..Addressing these questions should be a priority for research on cohorts of ART children...
  24. pmc von Hippel-Lindau disease: a clinical and scientific review
    Eamonn R Maher
    Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Institute of Biomedical Research, Birmingham, UK
    Eur J Hum Genet 19:617-23. 2011
    ..Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies...
  25. ncbi request reprint Von Hippel-Lindau disease
    Eamonn R Maher
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
    Curr Mol Med 4:833-42. 2004
    ..Such information offers prospects of novel therapeutic interventions for VHL disease and common cancers including RCC...
  26. ncbi request reprint Imprinting and assisted reproductive technology
    Eamonn R Maher
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
    Hum Mol Genet 14:R133-8. 2005
    ....
  27. ncbi request reprint Genetics of phaeochromocytoma
    Eamonn R Maher
    Section of Medical and Molecular Genetics, University of Birmingham School of Medicine and West Midlands Regional Genetics Service, Birmingham, UK
    Br Med Bull 79:141-51. 2006
    ..Recent studies have also provided clues to the molecular pathogenesis of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases...
  28. ncbi request reprint Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
    S C Clifford
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Hum Mol Genet 10:1029-38. 2001
    ..Our findings are consistent with impaired ability to degrade HIF-alpha subunit being required for HAB development and RCC susceptibility...
  29. ncbi request reprint RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham, B15 2TT, UK
    Oncogene 20:7573-7. 2001
    ..3 neuroblastoma TSG and (b) a subset of neuroblastomas may be characterized by a CpG island methylator phenotype...
  30. ncbi request reprint Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma
    C Morrissey
    Section of Medical and Molecular Genetics, Department of Pediatrics and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, United Kingdom
    Cancer Res 61:7277-81. 2001
    ....
  31. pmc Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma
    M R Morris
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
    J Clin Pathol 57:706-11. 2004
    ..In RCC, three candidate HIF activating genes exist-FIH-1 (factor inhibiting HIF), SDHB, and FH-which may be dependent or independent of VHL inactivation...
  32. ncbi request reprint Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours
    A Agathanggelou
    Section of Medical and Molecular Genetics, Department of Reproductive and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham, B15 2TT, UK
    Oncogene 20:1509-18. 2001
    ....
  33. pmc Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma
    M R Morris
    Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham, UK
    Oncogene 29:2104-17. 2010
    ..The identification of these epigenetically inactivated candidate RCC TSGs can provide insights into renal tumourigenesis and a basis for developing novel therapies and biomarkers for prognosis and detection...
  34. pmc Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer
    N Fernandes da Silva
    Cancer Research UK Renal Molecular Oncology Research Group, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 40:820-4. 2003
    ..These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC...
  35. ncbi request reprint 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
    C D E Margetts
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Endocr Relat Cancer 12:161-72. 2005
    ..001). This suggests that 11p15.5-imprinted genes may be implicated in the pathogenesis of both familial (germline VHL and SDHD mutations) and sporadic phaeochromocytomas...
  36. pmc Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer
    W N Cooper
    Department of Medical and Molecular Genetics, Division of Reproductive and Child Health, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK
    Oncogene 27:1805-11. 2008
    ..We have identified RASSF2 as a novel methylation marker for multiple malignancies and it has the potential to be developed into a valuable marker for screening several cancers in parallel using promoter hypermethylation profiles...
  37. ncbi request reprint The pVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin B and C, Rbx1 and HIF-1alpha in renal cell carcinoma
    S C Clifford
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham, B15 2TT, UK
    Oncogene 20:5067-74. 2001
    ..HIF response is activated in CC-RCC tumorigenesis...
  38. ncbi request reprint Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma
    R P Hogg
    Department of Paediatrics and Child Health, Section of Medical and Molecular Genetics, The Medical School, University of Birmingham, Edgbaston, B15 2TT, Birmingham, UK
    Eur J Cancer 38:1585-92. 2002
    ..Furthermore, in the presence of homozygous inactivation of other 3p TSGs, RASSF1A haploinsufficiency might be sufficient to promote tumourigenesis in many HNSCC...
  39. pmc Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, United Kingdom
    Am J Hum Genet 69:49-54. 2001
    ..These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility...
  40. ncbi request reprint 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
    S C Clifford
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham, U K
    Genes Chromosomes Cancer 26:20-8. 1999
    ..These findings suggest that unless CUL2 is inactivated by epigenetic events, it is not a major RCC TSG. However, CUL2 remains a candidate TSG for other tumor types demonstrating 10p LOH. Genes Chromosomes Cancer 26:20-28, 1999...
  41. ncbi request reprint Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer
    Michael S Nahorski
    Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 47:385-90. 2010
    ..CONCLUSIONS These findings suggest that the previously reported clinical heterogeneity for colorectal neoplasia may reflect allelic heterogeneity and the risk of colorectal neoplasia in BHD syndrome requires further investigation...
  42. ncbi request reprint Identification of novel VHL targets that are associated with the development of renal cell carcinoma
    M Abdulrahman
    Department of Medical and Molecular Genetics, University of Birmingham, The Medical School, Birmingham, UK
    Oncogene 26:1661-72. 2007
    ..These findings implicate TMSNB and PAR2 candidate oncogenes in the pathogenesis of VHL-associated RCC...
  43. pmc Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter
    M Zatyka
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 39:463-72. 2002
    ....
  44. doi request reprint Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis
    V K Hill
    Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
    Oncogene 30:978-89. 2011
    ..This is the first report demonstrating that RASSF10 can act as a tumor suppressor gene and is frequently methylated in gliomas and can potentially be developed into a prognostic marker for sGBM...
  45. pmc Chromosome 3p allele loss in early invasive breast cancer: detailed mapping and association with clinicopathological features
    A Martinez
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Mol Pathol 54:300-6. 2001
    ..0098) and oestrogen (p = 0.0472) receptor expression, indicating a link between 3p allelic loss and the regulation of differentiation...
  46. pmc Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers
    R E Dickinson
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
    Br J Cancer 91:2071-8. 2004
    ..Hence, evidence is accumulating for the involvement of members of the guidance cues molecules and their receptors in tumour development...
  47. ncbi request reprint The genetics of paragangliomas: a review
    T P C Martin
    Specialist Registrar, ENT West Midlands Deanery, Birmingham, West Midlands, UK
    Clin Otolaryngol 32:7-11. 2007
    ..Patients who present with a family history of paraganglioma or phaeochromocytoma, with multiple tumours, or early onset tumours (<50 years), should be referred for genetic investigation...
  48. doi request reprint Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma
    M R Morris
    Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham, UK
    Oncogene 30:1390-401. 2011
    ..Tumour methylation of SCUBE3 was associated with a significantly increased risk of cancer death or relapse (P=0.0046). The identification of candidate epigenetically inactivated RCC TSGs provides new insights into renal tumourigenesis...
  49. doi request reprint Genotype-phenotype correlations in VHL exon deletions
    Alisdair McNeill
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Am J Med Genet A 149:2147-51. 2009
    ..These results add to the growing body of evidence suggesting that patients with VHL syndrome caused by large VHL deletions that include C3orf10 may be designated as having a specific subtype (Type 1B) of the disorder...
  50. ncbi request reprint Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer
    F M Richards
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
    Hum Mol Genet 8:607-10. 1999
    ..Thus, CDH1 should be investigated as a cause of inherited susceptibility to both gastric and colorectal cancers...
  51. doi request reprint Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
    M A Kurian
    Department of Pediatric Neurology, Birmingham Children s Hospital, Birmingham, UK
    Neurology 70:1623-9. 2008
    ..Previously, children with PLA2G6 mutations have been diagnosed with several different disorders and we wished to better define the phenotype of PLA2G6- associated neurodegeneration...
  52. pmc Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)
    I A Aligianis
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 39:656-60. 2002
    ..To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis...
  53. pmc Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancer
    A J Alvi
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, UK
    Mol Pathol 54:240-3. 2001
    ..The spurious TGFBR2 frameshift mutations detected by sequencing after conventional PCR underline the importance of confirming putative mutations in repetitive sequences by alternative methods...
  54. pmc Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer
    A J Alvi
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, UK
    Mol Pathol 55:153-5. 2002
    ..To investigate the involvement of the RB2/p130 gene in the pathogenesis of sporadic ovarian cancer in addition to head and neck squamous cell carcinoma (HNSCC)...
  55. doi request reprint Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis
    S C Hillman
    School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK
    Ultrasound Obstet Gynecol 41:610-20. 2013
    ....
  56. doi request reprint Microarray comparative genomic hybridization in prenatal diagnosis: a review
    S C Hillman
    School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK
    Ultrasound Obstet Gynecol 40:385-91. 2012
    ....
  57. doi request reprint Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
    Andrew R Cullinane
    Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    Nat Genet 42:303-12. 2010
    ..The VPS33B-VIPAR complex thus has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney...
  58. doi request reprint Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
    Christopher J Ricketts
    Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Birmingham, United Kingdom
    Hum Mutat 31:41-51. 2010
    ..The differing effect of the SDHD p.Pro81Leu on HNPGL and pheochromocytoma risks suggests differing mechanisms of tumorigenesis in SDH-associated HNPGL and pheochromocytoma...
  59. doi request reprint Germline SDHB mutations and familial renal cell carcinoma
    Christopher Ricketts
    Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
    J Natl Cancer Inst 100:1260-2. 2008
    ....
  60. ncbi request reprint Identification of novel VHL target genes and relationship to hypoxic response pathways
    Esther N Maina
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
    Oncogene 24:4549-58. 2005
    ..These provide insights into mechanisms of pVHL tumour suppressor function and identify novel hypoxia-responsive targets that might be implicated in tumorigenesis in both VHL disease and in other cancers with HIF upregulation...
  61. pmc Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
    Am J Hum Genet 86:471-8. 2010
    ..This is the first gene to be associated with Fowler syndrome, and this finding provides a basis for further studies to elucidate the pathogenetic mechanisms and phenotypic spectrum of associated disorders...
  62. doi request reprint Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease
    E Meyer
    Department of Medical and Molecular Genetics, Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, UK
    Mol Genet Metab 104:637-43. 2011
    ..We propose that diagnostic screening of GJC2 should include sequence analysis of the non-coding exon 1, as well as the coding regions to avoid misdiagnosis or diagnostic delay in suspected PMLD...
  63. pmc Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
    W W Lam
    Department of Paediatrics and Child Health, University of Birmingham, UK
    J Med Genet 36:518-23. 1999
    ....
  64. doi request reprint Germline mutation in DOK7 associated with fetal akinesia deformation sequence
    J Vogt
    Department of Medical and Molecular Genetics and WellChild Paediatric Research Centre, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    J Med Genet 46:338-40. 2009
    ....
  65. pmc Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma
    Caroline D E Margetts
    Department of Medical and Molecular Genetics, Institute of Biomedical Research Cancer Research, UK
    Endocr Relat Cancer 15:777-86. 2008
    ..These findings extend epigenotype of phaeochromocytoma and identify candidate genes implicated in sporadic phaeochromocytoma tumourigenesis...
  66. ncbi request reprint Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancers
    Ashraf Dallol
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Oncogene 21:3020-8. 2002
    ..Our findings suggest that DUTT1 warrants further analysis as a candidate for the tumour suppressor gene (TSG) at 3p12, a region defined by hemi and homozygous deletions and functional analysis...
  67. ncbi request reprint Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
    Dewi Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham, UK
    Clin Endocrinol (Oxf) 59:728-33. 2003
    ..Germline mutations in three subunits of mitochondrial complex II (SDHB, SDHC and SDHD) may be associated with susceptibility to phaeochromocytoma (PC) and/or head and neck paraganglioma (HNPGL)...
  68. ncbi request reprint Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
    Paul Gissen
    Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children s Hospital, UK
    Nat Genet 36:400-4. 2004
    ..VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion...
  69. ncbi request reprint Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma
    Mark R Morris
    Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Edgbaston, United Kingdom
    Cancer Res 65:4598-606. 2005
    ..This information provides opportunities to develop novel targeted approaches to the treatment of RCC...
  70. ncbi request reprint The pressure rises: update on the genetics of phaeochromocytoma
    Eamonn R Maher
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, School of Medicine, University of Birmingham and West Midlands Genetics Service, Birmingham, UK
    Hum Mol Genet 11:2347-54. 2002
    ..The mechanism by which SDH subunit mutations predispose to phaeochromocytomas has not been defined in detail, but dysregulation of hypoxia-responsive genes and impairment of mitochondria-mediated apoptosis have both been suggested...
  71. ncbi request reprint 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
    Malgorzata Zatyka
    Section of Medical and Molecular Genetics, Department of Pediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, United Kingdom
    Cancer Res 62:3803-11. 2002
    ..05). These findings suggest that a variety of HIF-independent mechanisms may contribute to pVHL tumor suppressor activity and that polymorphic variation at one pVHL target influences the phenotypic expression of VHL disease...
  72. pmc Detailed mapping of a congenital heart disease gene in chromosome 3p25
    E K Green
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, UK
    J Med Genet 37:581-7. 2000
    ..These findings will accelerate the identification of the 3p25 CHD susceptibility locus and facilitate investigations of the role of this locus in non-syndromic AVSDs, which are a common form of familial and isolated CHD...
  73. ncbi request reprint Von Hippel-Lindau disease: clinical and molecular perspectives
    S C Clifford
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham, B15 2TT, United Kingdom
    Adv Cancer Res 82:85-105. 2001
    ..Clinical and laboratory studies of VHL disease have provided a paradigm for demonstrating the importance of familial cancer syndromes in elucidating mechanisms of tumorigenesis in familial and sporadic cancer...
  74. pmc A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
    N V Morgan
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
    J Med Genet 40:431-5. 2003
    ..Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations...
  75. pmc Cargos and genes: insights into vesicular transport from inherited human disease
    Paul Gissen
    Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research West, Edgbaston, Birmingham, B15 2TT, UK
    J Med Genet 44:545-55. 2007
    ....
  76. doi request reprint Population-based survey of cancer risks in chromosome 3 translocation carriers
    Emma R Woodward
    CRUK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham, B15 2TT, UK
    Genes Chromosomes Cancer 49:52-8. 2010
    ..322, P = 0.673). These findings suggest that, in the absence of a family history of RCC or evidence of disruption of a specific tumor suppressor gene, chromosome 3 translocations carriers are not at high risk of developing RCC...
  77. doi request reprint Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
    Hakan Cangul
    Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    Clin Endocrinol (Oxf) 73:671-7. 2010
    ..We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG...
  78. pmc Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome
    Andrew R Cullinane
    Department of Medical and Molecular Genetics, University of Birmingham, Birmingham, UK
    Hum Mutat 30:E330-7. 2009
    ..5 years. Thus we show that all patients with a classical clinical course of ARC had decreased expression of VPS33B whereas normal VPS33B expression was associated with good prognosis despite initial diagnosis of ARC...
  79. doi request reprint Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN
    Emma R Woodward
    Cancer Research UK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham and West Midlands Regional Genetics Service, Birmingham Women s Hospital, United Kingdom
    Clin Cancer Res 14:5925-30. 2008
    ....
  80. ncbi request reprint Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma
    Mark R Morris
    Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK
    Anticancer Res 29:4337-43. 2009
    ..Loss of HIF-1alpha expression has been described in RCC cell lines and primary tumours. Whether mutations in the alpha-subunits of HIF-1alpha and HIF-2alpha contribute to renal tumourigenesis was investigated here...
  81. ncbi request reprint Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
    Tim Forshew
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
    Hum Genet 117:452-9. 2005
    ..These findings confirm that mutations in HSF4 may result in both autosomal dominant and autosomal recessive congenital cataract, and highlight the locus heterogeneity in autosomal recessive congenital cataract...
  82. ncbi request reprint Von Hippel-Lindau disease and endocrine tumour susceptibility
    Emma R Woodward
    Section of Medical and Molecular Genetics and Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Institute of Biomedical Research, Birmingham B15 2TT, UK
    Endocr Relat Cancer 13:415-25. 2006
    ..Recently, it has been suggested that an HIF-independent failure of developmental apoptosis is a common feature of all inherited phaeochromocytoma susceptibility syndromes...
  83. ncbi request reprint RAN GTPase is a RASSF1A effector involved in controlling microtubule organization
    Ashraf Dallol
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    Curr Biol 19:1227-32. 2009
    ..These findings reveal a mechanism for how RASSF1A controls microtubule stability and for how its loss compromises the integrity of the mitotic spindle, leading to aneuploidy and tumorigenesis...
  84. ncbi request reprint Depletion of the Ras association domain family 1, isoform A-associated novel microtubule-associated protein, C19ORF5/MAP1S, causes mitotic abnormalities
    Ashraf Dallol
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, United Kingdom
    Cancer Res 67:492-500. 2007
    ....
  85. ncbi request reprint The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
    Ursula M Smith
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
    Nat Genet 38:191-6. 2006
    ..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin...
  86. ncbi request reprint Frequent epigenetic inactivation of RASSF1A and BLU genes located within the critical 3p21.3 region in gliomas
    Luke Hesson
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK
    Oncogene 23:2408-19. 2004
    ..In addition, RASSF1A and BLU methylation appear to be independent and specific events and not due to region-wide changes in DNA methylation...
  87. ncbi request reprint Endometriosis and the neoplastic process
    Rajesh Varma
    Section of Medical and Molecular Genetics, Birmingham Women s Hospital, Birmingham, UK
    Reproduction 127:293-304. 2004
    ....
  88. ncbi request reprint Genotype-phenotype correlations in von Hippel-Lindau disease
    Kai Ren Ong
    Department of Clinical Genetics, Birmingham Women s Hospital, Edgbaston, Birmingham, United Kingdom
    Hum Mutat 28:143-9. 2007
    ..These results extend genotype-phenotype-protein structure correlations in VHL disease and provide a baseline for future chemoprevention studies in VHL disease...
  89. ncbi request reprint Clinical and molecular genetic features of ARC syndrome
    Paul Gissen
    Section of Medical and Molecular Genetics, Norton Court, Birmingham Women s Hospital, University of Birmingham, B15 2TG, Edgbaston, Birmingham, UK
    Hum Genet 120:396-409. 2006
    ..In conclusion we state that molecular diagnosis is possible for most children in whom ARC syndrome is suspected and VPS33B mutation analysis should replace organ biopsy as a first line diagnostic test for ARC syndrome...
  90. ncbi request reprint How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings?
    S C Hillman
    School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK
    J Matern Fetal Neonatal Med 27:649-57. 2014
    ....
  91. ncbi request reprint The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways
    F E Lock
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Oncogene 29:4307-16. 2010
    ..These results implicate RASSF8 as a tumor suppressor gene that is essential for maintaining AJs function in epithelial cells and have a role in epithelial cell migration...
  92. ncbi request reprint Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome
    Wendy N Cooper
    1Medical and Molecular Genetics Section, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Eur J Hum Genet 13:1025-32. 2005
    ....
  93. doi request reprint A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene
    Derek H K Lim
    Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK
    Hum Mutat 31:E1043-51. 2010
    ..The mutations are comprised of deletions (44.3%), substitutions (35.7%), duplications (14.3%) and deletion/insertions (5.7%). The database is accessible online at http://www.lovd.nl/flcn...
  94. ncbi request reprint RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamics
    Ashraf Dallol
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham, United Kingdom
    Cancer Res 64:4112-6. 2004
    ..Our data identify a role for RASSF1A in the regulation of microtubules and cell cycle dynamics that could be part of the mechanism(s) by which RASSF1A exerts its growth inhibition on cancer cells...
  95. pmc A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
    Neil V Morgan
    Section of Medical and Molecular Genetics, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, United Kingdom
    Am J Hum Genet 78:160-6. 2006
    ..These findings define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS...
  96. ncbi request reprint Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers
    Angelo Agathanggelou
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    Oncogene 22:1580-8. 2003
    ..Together, these data suggest a significant role for epigenetic inactivation of BLU in the pathogenesis of common human cancers and that methylation inactivation of BLU occurs independent of RASSF1A in SCLC and neuroblastoma tumours...
  97. ncbi request reprint Frequent epigenetic inactivation of the SLIT2 gene in gliomas
    Ashraf Dallol
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK
    Oncogene 22:4611-6. 2003
    ..2. Furthermore, our data suggest that a detailed analysis of both the cancer genome and epigenome will be required to identify key TSGs involved in glioma development...
  98. pmc Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma
    Christopher Ricketts
    Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
    PLoS ONE 4:e6037. 2009
    ..Hence we hypothesised that low-penetrance functional genetic variants in pathways related to the VHL protein (pVHL) function might (a) modify the phenotypic expression of VHL disease and/or (b) predispose to sporadic RCC...
  99. ncbi request reprint Involvement of the RASSF1A tumor suppressor gene in controlling cell migration
    Ashraf Dallol
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, United Kingdom
    Cancer Res 65:7653-9. 2005
    ..These findings represent a novel function for RASSF1A, which may help explain its tumor suppression ability independently of its effects on cell cycle and apoptosis...
  100. ncbi request reprint A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
    Neil V Morgan
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, B15 2TT, UK
    Hum Genet 111:456-61. 2002
    ..Comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2-linked kindreds suggests that polydactyly (and possibly encephalocele) appear less common in MKS3-linked families...