Barry Eng Selected Research

7-dehydrocholesterol reductase

7/2007	Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
7/2005	Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
3/2004	Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
2/2002	Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

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Barry Eng Research Topics

Disease

10	Thalassemia 07/2017 - 01/2008
5	beta-Thalassemia (Cooley's Anemia) 01/2007 - 11/2003
4	Smith-Lemli-Opitz Syndrome 07/2007 - 02/2002
2	Polycythemia (Erythrocytosis) 01/2020 - 01/2007
2	alpha-Thalassemia 01/2009 - 01/2009
2	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 05/2006 - 11/2003
2	Hemoglobinopathies 01/2005 - 11/2003
2	Hydrops Fetalis (Fetal Edema) 01/2005 - 11/2003
1	Pancreatic Neoplasms (Pancreatic Cancer) 01/2020
1	Hemochromatosis (Bronze Diabetes) 07/2018
1	delta-Thalassemia 01/2010
1	Encephalitis (Encephalitis, Rasmussen) 05/2006
1	Disease Progression 05/2006
1	Mitochondrial Diseases (Mitochondrial Disease) 05/2006

Drug/Important Bio-Agent (IBA)

7	Hemoglobins (Hemoglobin)IBA 01/2020 - 11/2003
5	Codon (Codons)IBA 01/2015 - 01/2005
4	GlobinsIBA 07/2017 - 01/2011
4	7-dehydrocholesterol reductaseIBA 07/2007 - 02/2002
3	Amino Acids FDA Link 01/2015 - 01/2005
3	CholesterolIBA 07/2007 - 02/2002
2	Oxygen (Dioxygen)IBA 01/2020 - 01/2007
2	NucleotidesIBA 01/2015 - 01/2012
2	hemoglobin A2'IBA 01/2013 - 01/2005
2	beta-Globins (beta Globin)IBA 01/2007 - 01/2005
2	Cerebroside-Sulfatase (Arylsulfatase A)IBA 05/2006 - 11/2003
2	hemoglobin Bart'sIBA 01/2005 - 11/2003
1	Complement System Proteins (Complement)IBA 01/2020
1	IronIBA 07/2018
1	Initiator Codon (Start Codon)IBA 09/2016
1	Glycated Hemoglobin (Glycosylated Hemoglobin)IBA 09/2016
1	Deoxyribonuclease I (Nickase)IBA 05/2015
1	delta-GlobinsIBA 01/2010
1	Nonsense Codon (Nonsense Mutation)IBA 01/2009
1	Messenger RNA (mRNA)IBA 01/2009
1	hemoglobin BunburyIBA 01/2007
1	EnzymesIBA 05/2006
1	antineoplaston A10 (A 10)IBA 01/2005
1	hemoglobin A2-MumcIBA 01/2005
1	alanylaspartic acidIBA 01/2005