Soo-Mi Park

Summary

Affiliation: Addenbrooke's Hospital
Country: UK

Publications

  1. ncbi Genetics of congenital hypothyroidism
    S M Park
    Department of Clinical Genetics, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    J Med Genet 42:379-89. 2005
  2. ncbi Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
    Soo Mi Park
    Department of Medical Genetics, Addenbrooke s Hospital NHS Trust, Cambridge, UK
    Am J Med Genet A 143:2024-8. 2007
  3. ncbi Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
    S M Park
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Clin Endocrinol (Oxf) 60:220-7. 2004
  4. ncbi A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
    Mireille Castanet
    Paediatric Endocrinology Unit and INSERM U457, Paris, France
    Hum Mol Genet 11:2051-9. 2002

Collaborators

Detail Information

Publications4

  1. ncbi Genetics of congenital hypothyroidism
    S M Park
    Department of Clinical Genetics, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    J Med Genet 42:379-89. 2005
    ..This review focuses on the genetic aspects of primary congenital hypothyroidism...
  2. ncbi Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
    Soo Mi Park
    Department of Medical Genetics, Addenbrooke s Hospital NHS Trust, Cambridge, UK
    Am J Med Genet A 143:2024-8. 2007
    ..We therefore suggest that this is a clinically important diagnostic feature of this disorder...
  3. ncbi Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
    S M Park
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Clin Endocrinol (Oxf) 60:220-7. 2004
    ..We wished to ascertain whether mutations in the TSH receptor (TSHR) gene were present in two siblings with congenital hypothyroidism with no parental consanguinity...
  4. ncbi A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
    Mireille Castanet
    Paediatric Endocrinology Unit and INSERM U457, Paris, France
    Hum Mol Genet 11:2051-9. 2002
    ..Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH...