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Peter D Turnpenny Selected Research

Dysostoses

3/2011Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).
6/2008Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
7/2003Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

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Peter D Turnpenny Research Topics

Disease

3Scoliosis
12/2012 - 10/2008
3Congenital Abnormalities (Deformity)
05/2012 - 10/2007
3Dysostoses
03/2011 - 07/2003
2Kyphosis
01/2009 - 10/2008
2Neck Pain (Cervicalgia)
01/2009 - 10/2008
2Myopia
10/2007 - 05/2002
1Situs Inversus
09/2013
1Dextrocardia
09/2013
1Mental Retardation (Idiocy)
12/2012
1Hypospadias
12/2012
1Mitochondrial Diseases (Mitochondrial Disease)
11/2012
1Cardiomegaly (Heart Hypertrophy)
05/2012
1Respiratory Insufficiency (Respiratory Failure)
03/2011
1Prolactinoma (Prolactinomas)
01/2010
1Acromegaly
01/2010
1Multiple Endocrine Neoplasia Type 1 (MEN I)
01/2010
1Hyperparathyroidism
01/2010
1Blepharophimosis
07/2008
1Hypoplastic Left Heart Syndrome
10/2007
1Exophthalmos (Proptosis)
10/2007
1Hypertelorism
10/2007
1Nevus (Nevi)
10/2007
1Cleft Lip (Harelip)
10/2007
1Microphthalmos
05/2006
1Astigmatism
05/2002
1Anisometropia
05/2002
1Strabismus (Squint)
05/2002

Drug/Important Bio-Agent (IBA)

4Jarcho-Levin syndromeIBA
09/2013 - 06/2008
3DNA (Deoxyribonucleic Acid)IBA
11/2012 - 05/2006
2CosmeticsIBA
01/2009 - 10/2008
1Mitochondrial DNA (mtDNA)IBA
11/2012
1Congenital Talipes EquinovarusIBA
05/2012
1Calcium-Sensing ReceptorsIBA
01/2010
1tebufenozide (Mimic)IBA
01/2010
1Albright's hereditary osteodystrophyIBA
07/2008
1Bohring syndromeIBA
10/2007
1autosomal recessive Spondylocostal dysostosisIBA
07/2003
1Valproic acid antenatal infectionIBA
05/2002
1Valproic Acid (Valproate, Semisodium)FDA LinkGeneric
05/2002
1Anticonvulsants (Antiepileptic Drugs)IBA
05/2002

Therapy/Procedure

1Intensive Care (Surgical Intensive Care)
05/2012
1Parathyroidectomy
01/2010
1Norwood Procedures
10/2007
1Sutures (Suture)
10/2007