Holly H Ardinger

Summary

Affiliation: Children's Mercy Hospital
Country: USA

Publications

  1. ncbi request reprint Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis
    Holly H Ardinger
    Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, Kansas City, Missouri, USA
    Am J Med Genet A 143:2959-62. 2007
  2. doi request reprint Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics
    Carol J Saunders
    Department of Pathology and Laboratory Medicine, The Children s Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA
    Am J Med Genet A 149:2527-31. 2009
  3. ncbi request reprint The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 146:83-92. 2008
  4. pmc Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
    Shinji Kondo
    Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
    Nat Genet 32:285-9. 2002
  5. ncbi request reprint Maternal serum screening and 22q11.2 deletion syndrome
    Michael L Begleiter
    Am J Med Genet A 143:410-1. 2007

Collaborators

  • Carol J Saunders
  • Linlea Armstrong
  • Antonio Richieri-Costa
  • Michael L Begleiter
  • Shinji Kondo
  • Andrea M Atherton
  • Janda D Buchholz
  • Molly M Lund
  • Danilo Moretti-Ferreira
  • Claude Houdayer
  • Lina Moreno
  • Arthur S Aylsworth
  • Consuelo Valencia
  • Mauricio Arcos-Burgos
  • Bryan C Bjork
  • Michel Bahuau
  • Yoriko Watanabe
  • Donna M McDonald-McGinn
  • Sandra Daack-Hirsch
  • Barbara R Pober
  • Emma Howard
  • Elaine H Zackai
  • Alexandra S Knight
  • Andrew C Lidral
  • Edward J Lammer
  • Rebecca J Richardson
  • Michael J Dixon
  • Achim Sander
  • Brian C Schutte
  • Renata L L Ferreira de Lima
  • Jeffrey C Murray

Detail Information

Publications5

  1. ncbi request reprint Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis
    Holly H Ardinger
    Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, Kansas City, Missouri, USA
    Am J Med Genet A 143:2959-62. 2007
    ..Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology...
  2. doi request reprint Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics
    Carol J Saunders
    Department of Pathology and Laboratory Medicine, The Children s Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA
    Am J Med Genet A 149:2527-31. 2009
    ..In addition, we suggest an economical testing strategy...
  3. ncbi request reprint The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 146:83-92. 2008
    ..Herein, we present two cases, and, through review of the manifestations of HMS in affected and at-risk family members, we have observed that predisposition to brain tumor is a cardinal feature of this condition...
  4. pmc Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
    Shinji Kondo
    Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
    Nat Genet 32:285-9. 2002
    ..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia...
  5. ncbi request reprint Maternal serum screening and 22q11.2 deletion syndrome
    Michael L Begleiter
    Am J Med Genet A 143:410-1. 2007