Meena Balasubramanian

Summary

Country: UK

Publications

  1. doi request reprint Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK Electronic address
    Eur J Paediatr Neurol 17:661-5. 2013
  2. doi request reprint Genotype-phenotype study in type V osteogenesis imperfecta
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, UK
    Clin Dysmorphol 22:93-101. 2013
  3. doi request reprint Pattern of clinical genetics referral following perinatal postmortems
    Meena Balasubramanian
    Sheffield Clinical Genetics Services, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, United Kingdom
    Pediatr Dev Pathol 15:478-86. 2012
  4. doi request reprint Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
    Eur J Med Genet 52:234-8. 2009
  5. doi request reprint Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype
    M Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
    J Med Genet 48:290-8. 2011
  6. doi request reprint Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
    M Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
    Eur J Med Genet 54:314-8. 2011
  7. doi request reprint IMAGe syndrome: Case report with a previously unreported feature and review of published literature
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, UK
    Am J Med Genet A 152:3138-42. 2010
  8. doi request reprint Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK
    Clin Dysmorphol 20:47-9. 2011
  9. doi request reprint Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study
    Meena Balasubramanian
    aSheffield Clinical Genetics Service bDepartment of Histopathology cSheffield Diagnostic Genetics Service, Sheffield Children s NHS Foundation Trust dElectron Microscopy Unit, Department of Histopathology, Royal Hallamshire Hospital eNational EDS Service fAcademic Unit of Child Health, University of Sheffield, Sheffield, UK
    Clin Dysmorphol 24:45-54. 2015
  10. doi request reprint Type 1 collagenopathy presenting with a Russell-Silver phenotype
    Michael J Parker
    Sheffield Clinical Genetics Services, Sheffield Children s NHS Foundation Trust, UK
    Am J Med Genet A 155:1414-8. 2011

Detail Information

Publications12

  1. doi request reprint Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK Electronic address
    Eur J Paediatr Neurol 17:661-5. 2013
    ..We report both these families with variable presentation of an autosomal dominant condition and describe the phenotypic presentation in both these families in further detail and review the published literature on this condition. ..
  2. doi request reprint Genotype-phenotype study in type V osteogenesis imperfecta
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, UK
    Clin Dysmorphol 22:93-101. 2013
    ..Accurate phenotyping (including describing the common facial features) before investigations is important to enable the useful interpretation of genetic results and/or target-specific gene testing...
  3. doi request reprint Pattern of clinical genetics referral following perinatal postmortems
    Meena Balasubramanian
    Sheffield Clinical Genetics Services, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, United Kingdom
    Pediatr Dev Pathol 15:478-86. 2012
    ..This, in turn, has provided a clinical focus within the joint histopathology-genetics multidisciplinary meetings to enable discussion of potential referrals...
  4. doi request reprint Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
    Eur J Med Genet 52:234-8. 2009
    ..We report affected siblings born to healthy non-consanguineous parents and review previously published similar sibships and case reports in relation to the clinical features...
  5. doi request reprint Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype
    M Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
    J Med Genet 48:290-8. 2011
    ..In addition, because the individuals in this study range in age from 3-19 years, these patients will help define the natural progression of the phenotype in patients with this microdeletion...
  6. doi request reprint Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
    M Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
    Eur J Med Genet 54:314-8. 2011
    ..We discuss the function and potential relevance of the genes in this region with regards to the features described in this condition...
  7. doi request reprint IMAGe syndrome: Case report with a previously unreported feature and review of published literature
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, UK
    Am J Med Genet A 152:3138-42. 2010
    ..We discuss the clinical presentation in our patient and review the literature in this rare multisystem disorder...
  8. doi request reprint Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK
    Clin Dysmorphol 20:47-9. 2011
    ..We describe this rare cytogenetic finding in a fetus with bilateral renal agenesis. We also discuss the issues around genetic counselling when this is encountered in clinical practice...
  9. doi request reprint Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study
    Meena Balasubramanian
    aSheffield Clinical Genetics Service bDepartment of Histopathology cSheffield Diagnostic Genetics Service, Sheffield Children s NHS Foundation Trust dElectron Microscopy Unit, Department of Histopathology, Royal Hallamshire Hospital eNational EDS Service fAcademic Unit of Child Health, University of Sheffield, Sheffield, UK
    Clin Dysmorphol 24:45-54. 2015
    ..Correlation of skin findings with the clinical phenotype as well as genetic testing has enabled understanding of the molecular pathogenesis and translation of changes at the genomic level to clinical phenotype. ..
  10. doi request reprint Type 1 collagenopathy presenting with a Russell-Silver phenotype
    Michael J Parker
    Sheffield Clinical Genetics Services, Sheffield Children s NHS Foundation Trust, UK
    Am J Med Genet A 155:1414-8. 2011
    ..We describe two cases with a phenotypic overlap between OI and RSS who both have COL1A1 mutations. Thus, a type 1 collagenopathy should be considered in the differential diagnosis of syndromic short stature...
  11. doi request reprint CRTAP mutation in a patient with Cole-Carpenter syndrome
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, UK
    Am J Med Genet A 167:587-91. 2015
    ..118G>T mutation in exon 1 of the CRTAP gene. We describe the clinical features and correlate this with her molecular results. This is the first report towards elucidating the molecular basis of Cole-Carpenter syndrome...
  12. doi request reprint Pneumothorax from subpleural blebs-a new association of sotos syndrome?
    Meena Balasubramanian
    Sheffield Clinical Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, Yorkshire, United Kingdom
    Am J Med Genet A 164:1222-6. 2014
    ....