N Simon Thomas

Summary

Affiliation: Salisbury District Hospital
Country: UK

Publications

  1. ncbi request reprint An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome
    Christine A Joyce
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Eur J Hum Genet 10:707-14. 2002
  2. ncbi request reprint SHOX mutations in a family and a fetus with Langer mesomelic dwarfism
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom
    Am J Med Genet A 128:179-84. 2004
  3. ncbi request reprint Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Eur J Hum Genet 14:831-7. 2006
  4. doi request reprint Investigation of the origins of human autosomal inversions
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury SP2 8BJ, UK
    Hum Genet 123:607-16. 2008
  5. doi request reprint Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 125:181-8. 2009
  6. doi request reprint Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Am J Med Genet A 149:1407-14. 2009
  7. doi request reprint De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8TE, UK
    J Med Genet 47:112-5. 2010
  8. pmc Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
    Julia Baptista
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Am J Hum Genet 82:927-36. 2008
  9. ncbi request reprint Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences
    John C K Barber
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury
    Am J Med Genet A 143:615-8. 2007
  10. ncbi request reprint Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ, Salisbury, Wiltshire, UK
    Hum Genet 119:444-50. 2006

Collaborators

Detail Information

Publications25

  1. ncbi request reprint An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome
    Christine A Joyce
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Eur J Hum Genet 10:707-14. 2002
    ..In these two families the translocation is most likely to have arisen from a single ancestral event because all translocation carriers shared almost identical haplotypes around the breakpoints on both chromosomes...
  2. ncbi request reprint SHOX mutations in a family and a fetus with Langer mesomelic dwarfism
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom
    Am J Med Genet A 128:179-84. 2004
    ..This represents a unique molecular condition for LMD: the fetus is a compound heterozygote with two independent deletions, one inherited and one arising from a de novo event...
  3. ncbi request reprint Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Eur J Hum Genet 14:831-7. 2006
    ..Several factors are likely to be involved in the formation of recurrent rearrangements and the relative importance of these appear to be locus-specific...
  4. doi request reprint Investigation of the origins of human autosomal inversions
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury SP2 8BJ, UK
    Hum Genet 123:607-16. 2008
    ..Presumably the lack of selection against most inversions allows them to accumulate and disperse amongst different populations over time...
  5. doi request reprint Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 125:181-8. 2009
    ..However, like the t(4;11)(p16.2;p15.4), such translocations are likely to be rare with the t(11;22) remaining the only common recurrent constitutional reciprocal translocation...
  6. doi request reprint Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Am J Med Genet A 149:1407-14. 2009
    ..SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences...
  7. doi request reprint De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8TE, UK
    J Med Genet 47:112-5. 2010
    ..Methods: The parental origin of a series of de novo balanced reciprocal translocations was determined using DNA from flow sorted derivative chromosomes and linkage analysis...
  8. pmc Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
    Julia Baptista
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Am J Hum Genet 82:927-36. 2008
    ....
  9. ncbi request reprint Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences
    John C K Barber
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury
    Am J Med Genet A 143:615-8. 2007
  10. ncbi request reprint Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ, Salisbury, Wiltshire, UK
    Hum Genet 119:444-50. 2006
    ..Thus, there is a clear propensity for structural chromosome abnormalities to occur in male germ cells, although the chromosomal origin seems similar irrespective of the parental origin...
  11. pmc De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance
    Charlene Sibbons
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Eur J Hum Genet 20:155-60. 2012
    ..Our data suggest that mitotic mechanisms could be important for the formation of chromosome imbalances; however, we found no association with increased paternal age...
  12. ncbi request reprint Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
    John C K Barber
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Eur J Hum Genet 13:283-91. 2005
    ..As a result, published cases of transmitted imbalances have been collected as a guide to the possible significance of such findings in the future (see the 'Chromosome Anomaly Collection' at www.som.soton.ac.uk/research/geneticsdiv)...
  13. doi request reprint Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
    David J Bunyan
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Am J Med Genet A 161:1329-38. 2013
    ..This deletion was not seen in 471 normal controls (P<0.0001), providing further evidence for a phenotypic effect, albeit one with variable penetration...
  14. 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...
  15. ncbi request reprint Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans
    Catriona D Good
    Wellcome Department of Imaging Neuroscience, Institute of Neurology, Institute of Child Health, London, UK
    Brain 126:2431-46. 2003
    ..We show that the thrombocytic activity of MAOB is proportionate to the number of X-chromosomes, and hypothesize that haploinsufficiency of this enzyme in 45,X females predisposes to their deficits in social cognition...
  16. ncbi request reprint Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders
    Marijcke W M Veltman
    Developmental Psychiatry Section, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge, CB2 2AH, UK
    Eur Child Adolesc Psychiatry 13:42-50. 2004
    ..They also suggest that there may be cognitive differences between the groups in processing visuo-spatial information...
  17. pmc Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA
    Am J Med Genet A 146:1842-7. 2008
    ..This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders...
  18. pmc A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
    Sara Benito-Sanz
    Department of Endocrinology, Hospital Infantil Universitario Nino Jesus, Universidad Autonoma de Madrid, Madrid, Spain
    Am J Hum Genet 77:533-44. 2005
    ..Deletion analysis of this newly identified region should be included in the mutation screening of patients with LWD, LMD, and ISS...
  19. ncbi request reprint Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus
    James E Self
    Clinical Neurosciences Division, University of Southampton, Southampton, England
    Arch Ophthalmol 125:1255-63. 2007
    ..To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus...
  20. pmc Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots
    Sara Benito-Sanz
    Am J Hum Genet 79:409-14; author reply 414. 2006
  21. pmc Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
    Mette Gilling
    Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen
    Am J Hum Genet 78:878-83. 2006
    ..Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans...
  22. ncbi request reprint Functional disomy resulting from duplications of distal Xq in four unrelated patients
    Katherine L Lachlan
    Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, SO16 5YA, Southampton, UK
    Hum Genet 115:399-408. 2004
    ..We have also narrowed the putative critical interval for X-linked spina bifida...
  23. ncbi request reprint Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
    Patrick F Bolton
    Department of Child Psychiatry and MRC Centre for Social, Genetic and Developmental Psychiatry, The Institute of Psychiatry, Kings College, London, UK
    Psychiatr Genet 14:131-7. 2004
    ..The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres...
  24. ncbi request reprint Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype
    Katja M Milner
    Child and Adolescent Psychiatry Department and MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK
    J Child Psychol Psychiatry 46:1089-96. 2005
    ..We also tested reports that PWS cases due to the larger type I (TI) form of deletion show differences to cases with the smaller type II (TII) deletion...
  25. ncbi request reprint Estimate of the prevalence of chromosome 15q11-q13 duplications
    N Simon Thomas
    Am J Med Genet A 120:596-8. 2003