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C E Schwartz Selected Research

X-Linked 9 Mental Retardation

9/2004A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9).

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C E Schwartz Research Topics

Disease

5Intellectual Disability (Idiocy)
07/2013 - 12/2002
4X-Linked Mental Retardation (Mental Retardation, X Linked)
08/2008 - 09/2004
2Snyder Robinson syndrome
03/2009 - 08/2008
2Microcephaly
08/2007 - 12/2002
2Cleft Lip (Harelip)
07/2007 - 10/2005
1Cleft Palate (Palate, Cleft)
07/2007
1Vascular Diseases (Vascular Disease)
07/2006
1Klippel-Trenaunay-Weber Syndrome (Syndrome, Klippel-Trenaunay-Weber)
07/2006
1Paraplegia (Spastic Paraplegia)
05/2006
1Hirschsprung Disease (Hirschsprung's Disease)
05/2006
1Hydrocephalus (Hydrocephaly)
05/2006
1Aphasia (Dysphasia)
05/2006
1X-Linked Nonsyndromic Mental Retardation
01/2006
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2006
1Renpenning syndrome 1
05/2005
1Proteus Syndrome
10/2004
1Neoplasms (Cancer)
10/2004
1X-Linked 9 Mental Retardation
09/2004
1Prognathism
12/2002
1Ectrodactyly
12/2002
1Microphthalmos
12/2002
1Smith-Magenis Syndrome
05/2001
1Relapsing-Remitting Multiple Sclerosis
01/2000
1Multiple Sclerosis
01/2000

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
08/2008 - 09/2004
2Spermine SynthaseIBA
03/2009 - 08/2008
2polyglutamineIBA
05/2005 - 05/2001
1X-linked Creatine deficiencyIBA
07/2013
1Untranslated Regions (Untranslated Region)IBA
08/2007
1Angiogenesis Inducing Agents (Angiogenesis Factor)IBA
07/2006
1Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
05/2006
1DystrophinIBA
01/2006
1Coenzyme A Ligases (Acid-Thiol Ligases)IBA
01/2006
1NucleotidesIBA
05/2005
1Carrier Proteins (Binding Protein)IBA
05/2005
1DNA (Deoxyribonucleic Acid)IBA
10/2004
1GlypicansIBA
10/2004
1MethyltransferasesIBA
09/2004
1mono(2-methacryloyloxy)ethyl phthalate (MMEP)IBA
12/2002
1Sorting NexinsIBA
12/2002
1Interferon beta-1b (Betaseron)FDA Link
01/2000