Soo-Mi Park

Summary

Affiliation: Addenbrooke's Hospital
Country: UK

Publications

  1. pmc 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 request reprint 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 request reprint 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 request reprint 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. pmc 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 request reprint 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 request reprint 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 request reprint 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...