S Ennis

Summary

Country: UK

Publications

  1. ncbi request reprint Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    Andrew M Fisher
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 111:290-6. 2002
  2. ncbi request reprint FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation
    A E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Am J Med Genet 103:289-94. 2001
  3. ncbi request reprint Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH
    C A Joyce
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, SP2 8BJ, UK
    Hum Genet 109:440-51. 2001
  4. ncbi request reprint A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities
    Annette E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Hum Genet 112:298-302. 2003
  5. ncbi request reprint Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors
    N S Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Hum Mol Genet 10:243-50. 2001
  6. ncbi request reprint A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin
    N S Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Eur J Hum Genet 8:805-8. 2000
  7. ncbi request reprint Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
    C A Joyce
    Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Wilts, UK
    Hum Genet 105:273-80. 1999
  8. pmc Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations
    C E Browne
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom
    Am J Hum Genet 61:1342-52. 1997
  9. ncbi request reprint Stability and haplotype analysis of the FRAXE region
    A Murray
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Eur J Hum Genet 8:583-9. 2000
  10. ncbi request reprint An investigation of FRAXA intermediate allele phenotype in a longitudinal sample
    S Ennis
    Genetic Epidemiology and Bioinformatics Group, Human Genetics Division MP808, Duthie Building, Southampton General Hospital, Southampton SO16 6YD, Hampshire, UK
    Ann Hum Genet 70:170-80. 2006

Collaborators

Detail Information

Publications14

  1. ncbi request reprint Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    Andrew M Fisher
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 111:290-6. 2002
    ..5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly...
  2. ncbi request reprint FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation
    A E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Am J Med Genet 103:289-94. 2001
    ....
  3. ncbi request reprint Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH
    C A Joyce
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, SP2 8BJ, UK
    Hum Genet 109:440-51. 2001
    ..Hence, our data have important implications when defining the significance of cryptic telomeric rearrangements detected during screening programmes...
  4. ncbi request reprint A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities
    Annette E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Hum Genet 112:298-302. 2003
    ..The frequency of rearrangements seen in the recurrent miscarriage patient population was significantly different from that in the control group ( P=0.0096, Fisher's exact test) due to the acrocentric pericentromeric abnormalities...
  5. ncbi request reprint Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors
    N S Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Hum Mol Genet 10:243-50. 2001
    ..Thus, surprisingly, the risk factors associated with both MI and MII non-disjunction appear to be different for virtually every chromosome that has been adequately studied...
  6. ncbi request reprint A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin
    N S Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Eur J Hum Genet 8:805-8. 2000
    ..This failure was not associated with the presence of an increase in recombination in the smaller Xq/Yq pseudoautosomal region (PAR 2) or with the presence of microdeletions within PAR 1...
  7. ncbi request reprint Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
    C A Joyce
    Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Wilts, UK
    Hum Genet 105:273-80. 1999
    ..Importantly, in contrast to current thinking, our results suggest that imprinted genes may not underlie the SRS phenotype, and we propose an alternative hypothesis to explain the occurrence of maternal UPD 7 seen in some cases of SRS...
  8. pmc Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations
    C E Browne
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom
    Am J Hum Genet 61:1342-52. 1997
    ....
  9. ncbi request reprint Stability and haplotype analysis of the FRAXE region
    A Murray
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Eur J Hum Genet 8:583-9. 2000
    ..We suggest that whilst triplet repeat size is a significant predisposing factor for expansion at FRAXE other genetic determinants are also likely to be important...
  10. ncbi request reprint An investigation of FRAXA intermediate allele phenotype in a longitudinal sample
    S Ennis
    Genetic Epidemiology and Bioinformatics Group, Human Genetics Division MP808, Duthie Building, Southampton General Hospital, Southampton SO16 6YD, Hampshire, UK
    Ann Hum Genet 70:170-80. 2006
    ..Our findings demonstrate the non-random loss of participants from this cohort and highlight problems that may arise when such data are used in genetic association studies...
  11. ncbi request reprint Fluorescent in situ localization of the bovine activin receptor type IIA locus on chromosome 2 (2q2.3-2.4)
    L V Monteagudo
    Laboratory of Cytogenetics and Molecular Genetics Faculty of Veterinary, University of Zaragoza, C Miguel Servet, Spain
    Mamm Genome 7:869. 1996
  12. ncbi request reprint Prion protein gene polymorphisms in pedigree sheep in Ireland
    M Aherne
    Department of Animal Husbandry and Production, Faculty of Veterinary Medicine, U.C.D.Ballsbridge, Dublin 4, Ireland
    Res Vet Sci 70:51-6. 2001
    ..3 per cent in Galway, 46.4 per cent in Bleu du Maine to 62.5 per cent in Rouge de l'Ouest. The results indicate that a significant amount of variation exists between the breeds analysed in this study...
  13. ncbi request reprint Cloning of the bovine activin receptor type II gene (ACVR2) and mapping to chromosome 2 (BTA2)
    N Flavin
    Department of Pharmacology, University College Dublin, Ireland
    Cytogenet Cell Genet 75:25-9. 1996
    ..This gene locus, which has the characteristics of a type I and type II mapping locus, represents the first localisation of this gene in any species to date...
  14. ncbi request reprint Late-onset central hypoventilation syndrome: a family genetic study
    L S Doherty
    Respiratory Sleep Disorders Unit, St Vincent s University Hospital, Dublin, Ireland
    Eur Respir J 29:312-6. 2007
    ..The present study of a unique family confirms that transmission of late-onset congenital central hypoventilation syndrome is autosomal dominant in nature...