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M R Passos-Bueno Selected Research

Knobloch syndrome

12/2002Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
8/2000Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

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M R Passos-Bueno Research Topics

Disease

3Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
08/2002 - 02/2000
2Craniosynostoses (Craniosynostosis)
07/2008 - 06/2005
2Knobloch syndrome
12/2002 - 08/2000
2Sarcoglycanopathies
08/2001 - 06/2000
1Autistic Disorder (Autism)
11/2015
1Richieri Costa Pereira syndrome
11/2015
1Burn-Mckeown syndrome
11/2015
1Nager type Acrofacial dysostosis
11/2015
1Cerebrocostomandibular Syndrome
11/2015
1Dysostoses
11/2015
1Pierre Robin Syndrome (Syndrome, Pierre Robin)
11/2015
1Autism Spectrum Disorder
05/2015
1Muscular Diseases (Myopathy)
04/2011
1Snyder Robinson syndrome
08/2008
1X-Linked Mental Retardation (Mental Retardation, X Linked)
08/2008
1Intellectual Disability (Idiocy)
08/2008
1Trisomy (Trisomies)
07/2008
1Diabetic Retinopathy (Retinopathy, Diabetic)
07/2006
1Allan-Herndon-Dudley syndrome
05/2006
1Epilepsy (Aura)
12/2002
1Facioscapulohumeral Muscular Dystrophy
08/2002
1Down Syndrome (Down's Syndrome)
11/2001
1Adenocarcinoma
10/2001
1Prostatic Neoplasms (Prostate Cancer)
10/2001
1Type 2G Limb-Girdle Muscular Dystrophy
08/2001
1type 2C Limb-girdle muscular dystrophy
08/2001
1Miyoshi myopathy
08/2001
1Muscular Dystrophies (Muscular Dystrophy)
08/2001
1Limb-girdle muscular dystrophy type 2H
08/2001
1Limb-girdle muscular dystrophy type 2A
08/2001
1type 2B Limb-girdle muscular dystrophy
08/2001
1Neoplasms (Cancer)
08/2000
1Bipolar Disorder (Manic Depressive Psychosis)
07/2000
1Dysthymic Disorder
07/2000
1autosomal dominant Spastic paraplegia 10
05/2000

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
08/2008 - 02/2000
3EndostatinsIBA
12/2002 - 10/2001
2Creatine Kinase (Creatine Phosphokinase)IBA
04/2011 - 08/2002
2Collagen Type XVIII (Type XVIII Collagen)IBA
12/2002 - 08/2000
2DystrophinIBA
08/2001 - 06/2000
2Glycoproteins (Glycoprotein)IBA
08/2001 - 06/2000
2Sarcoglycans (beta Sarcoglycan)IBA
08/2001 - 06/2000
1TRPC6 Cation ChannelIBA
11/2015
1Messenger RNA (mRNA)IBA
11/2015
1Mechanistic Target of Rapamycin Complex 1IBA
05/2015
1Spermine SynthaseIBA
08/2008
1Apolipoproteins E (ApoE)IBA
07/2006
1Thyroid HormonesIBA
05/2006
1Protein Isoforms (Isoforms)IBA
12/2002
1A 17 (A-17)IBA
08/2002
1Angiogenesis InhibitorsIBA
10/2001
1CalpainIBA
08/2001
1Muscle Proteins (Muscle Protein)IBA
08/2001
1DysferlinIBA
08/2001
1Retinaldehyde (Retinal)IBA
08/2000
1Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA
07/2000
1syntrophinIBA
05/2000

Therapy/Procedure

2Sutures (Suture)
07/2008 - 06/2005
1Ligation
07/2008