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John M Opitz Selected Research

Achondrogenesis type 2

7/2010Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism.

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John M Opitz Research Topics

Disease

3Smith-Lemli-Opitz Syndrome
11/2012 - 03/2002
2Congenital Heart Defects (Congenital Heart Defect)
03/2003 - 03/2002
1Cicatrix (Scar)
03/2015
1Amniotic Band Syndrome (Amniotic Bands)
03/2015
1Stillbirth
07/2013
1Inborn Genetic Diseases (Disease, Hereditary)
07/2011
1Craniofacial Abnormalities
06/2011
1Craniosynostoses (Craniosynostosis)
06/2011
1Synostosis
06/2011
1Intellectual Disability (Idiocy)
06/2011
1Sensorineural Hearing Loss
04/2011
1Gonadal dysgenesis XX type deafness
04/2011
1Achondrogenesis type 2
07/2010
1Opitz-Kaveggia syndrome
12/2008
1Genetic Translocation (Chromosomal Translocation)
10/2007
1Opitz trigonocephaly syndrome
10/2007
1Chromosome Breakage
11/2005
1Fatigue
08/2005
1Failure to Thrive
08/2005
1Blister (Bulla)
07/2005
1Oculodentodigital Dysplasia
06/2004
1Teratoma (Teratoid Tumor)
07/2003
1Syndactyly (Polysyndactyly)
03/2003
1Hypospadias
03/2003
1type 2 Syndactyly
06/2002
1Edema (Dropsy)
03/2002
1Cleft Palate (Palate, Cleft)
03/2002
1Cataract (Cataracts)
03/2002
1Agenesis of Corpus Callosum
03/2002
1Liver Diseases (Liver Disease)
03/2002
1Microcephaly
03/2002
1Pyloric Stenosis
03/2002
1Disorders of Sex Development (Intersexuality)
03/2002

Drug/Important Bio-Agent (IBA)

3CholesterolIBA
11/2012 - 03/2002
2DNA (Deoxyribonucleic Acid)IBA
07/2013 - 07/2003
2Proteins (Proteins, Gene)FDA Link
07/2011 - 07/2005
2Amino AcidsFDA Link
04/2011 - 07/2005
1Formaldehyde (Formol)FDA Link
07/2013
1ParaffinIBA
07/2013
17-dehydrocholesterol reductaseIBA
11/2012
17-dehydrocholesterolIBA
11/2012
1Histidine-tRNA LigaseIBA
04/2011
1Collagen Type II (Type II Collagen)IBA
07/2010
1N-acetyltalosaminuronic acid (NAT)IBA
12/2008
1Immunoglobulins (Immunoglobulin)IBA
10/2007
1A-Form DNA (A-DNA)IBA
11/2005
1disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA
06/2004
1Connexin 43 (Connexin43)IBA
06/2004
1polyalanineIBA
06/2002

Therapy/Procedure

1Surgical Amputation (Amputations)
03/2015
1Sutures (Suture)
06/2011
1Decompression
08/2005