John A Crolla

Summary

Affiliation: Salisbury District Hospital
Country: UK

Publications

  1. pmc Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
    John A Crolla
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom
    Am J Hum Genet 71:1138-49. 2002
  2. ncbi Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
    John A Crolla
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Eur J Hum Genet 13:154-60. 2005
  3. 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
  4. doi Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
    David O Robinson
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Am J Med Genet A 146:558-69. 2008
  5. ncbi Distribution of the D15Z1 copy number polymorphism
    Annette E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Eur J Hum Genet 15:441-5. 2007
  6. 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
  7. doi 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. ncbi Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
    Annette E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom
    Am J Med Genet A 140:624-7. 2006
  9. ncbi A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion
    Morag N Collinson
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, United Kingdom
    Am J Med Genet A 126:27-32. 2004
  10. ncbi Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals
    Julia Baptista
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Eur J Hum Genet 13:1205-12. 2005

Collaborators

Detail Information

Publications22

  1. pmc Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
    John A Crolla
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom
    Am J Hum Genet 71:1138-49. 2002
    ..5%) and sporadic (26/63, or 41%) cases are not significantly different. An unexpectedly high frequency of chromosomal rearrangements is associated with both sporadic and familial aniridia in this cohort...
  2. ncbi Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
    John A Crolla
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Eur J Hum Genet 13:154-60. 2005
    ..The data were analysed for parental age effects, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age...
  3. 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
    ....
  4. doi Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
    David O Robinson
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Am J Med Genet A 146:558-69. 2008
    ..Overall, 67 of 71 cases (94%) undergoing full mutation analysis had a mutation in the PAX6 genomic region...
  5. ncbi Distribution of the D15Z1 copy number polymorphism
    Annette E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Eur J Hum Genet 15:441-5. 2007
    ....
  6. 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...
  7. doi 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. ncbi Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
    Annette E Cockwell
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom
    Am J Med Genet A 140:624-7. 2006
    ....
  9. ncbi A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion
    Morag N Collinson
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, United Kingdom
    Am J Med Genet A 126:27-32. 2004
    ..2). We also describe a further recombinant resulting in a maternal duplication of the Prader-Willi/Angelman critical region. This family illustrates the importance of distinguishing paracentric inversions from intrachromosomal insertions...
  10. ncbi Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals
    Julia Baptista
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Eur J Hum Genet 13:1205-12. 2005
    ..However, phenotypically normal individuals, and phenotypically abnormal individuals may have genes disrupted and therefore inactivated by one of the breakpoints. The significance of these disruptions remains to be determined...
  11. doi Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH
    Morag Collinson
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Am J Med Genet A 152:3124-8. 2010
    ..Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited...
  12. ncbi 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...
  13. pmc Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Salisbury, United Kingdom
    PLoS ONE 7:e45073. 2012
    ..Using methylation-sensitive restriction enzymes hypomethylated maternal sequences are digested leaving hypermethylated fetal sequences detectable. Complete digestion of maternal sequences is required to eliminate false positive results...
  14. pmc Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines
    Melody Tabiner
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom
    Am J Hum Genet 72:535-8. 2003
    ....
  15. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  16. pmc Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
    Veronica van Heyningen
    J Med Genet 44:787-90. 2007
    ..The aim of this study was to determine if there is a significant difference in the risk of developing Wilms tumour between patients with submicroscopic and those with visible deletions of the WT1 tumour suppressor gene...
  17. 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...
  18. ncbi Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment
    Allan Caine
    Regional Cytogenetics Unit, St James University Hospital, Leeds, UK
    Lancet 366:123-8. 2005
    ..The UKNSC also recommended that FISH or PCR tests should only include trisomies 13, 18, and 21. We undertook a retrospective cytogenetic audit to assess the probable clinical effect of these proposed policy changes...
  19. ncbi Bilateral preaxial polydactyly in a WAGR syndrome patient
    Siranoush Manoukian
    Department of Experimental Oncology, Istituto Nazionale Tumori, Milan, Italy
    Am J Med Genet A 134:426-9. 2005
    ..These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity...
  20. ncbi Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
    Leena Gole
    Department of Obstetrics and Gynaecology, National University of Singapore, Singapore
    Am J Med Genet A 125:177-80. 2004
    ..The relationship of the translocation to the clinical phenotypes is discussed...
  21. ncbi A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation
    Tristan W McMullan
    Southampton University School of Medicine, Human Genetics Division, Southampton General Hospital, Southampton SO16 6YD, UK
    Hum Genet 110:244-50. 2002
    ..Murine zfh-4 codes for a zinc finger homeodomain protein and is a transcription factor expressed in both muscle and nerve tissue. Human ZFH-4 is therefore a candidate gene for congenital bilateral isolated ptosis...
  22. ncbi Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
    Dominique Bremond-Gignac
    Department of Ophthalmology, Robert Debre Hospital, AP HP, Paris, France
    Eur J Hum Genet 13:409-13. 2005
    ..Molecular and follow-up data on the original WAGRO case are briefly presented...