André Reis Selected Research

Eye Abnormalities (Eye Abnormality)

7/2014	Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
11/2004	Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

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André Reis Research Topics

Disease

22	Intellectual Disability (Idiocy) 01/2021 - 12/2005
12	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2020 - 01/2005
12	Glaucoma 01/2019 - 04/2008
9	Neoplasms (Cancer) 01/2021 - 11/2003
8	Microcephaly 12/2018 - 01/2015
7	Neurodevelopmental Disorders 01/2022 - 10/2016
6	Exfoliation Syndrome 01/2021 - 12/2008
6	Psoriatic Arthritis 11/2017 - 12/2006
5	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2019 - 10/2009
4	Kidney Diseases (Kidney Disease) 01/2022 - 09/2014
4	Epilepsy (Aura) 11/2020 - 11/2010
4	Coronary Artery Disease (Coronary Atherosclerosis) 08/2013 - 02/2002
3	Type 2B2 Charcot-Marie-Tooth disease 12/2018 - 10/2009
3	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 12/2018 - 02/2003
3	Neuroblastoma 01/2018 - 09/2015
3	Atrophy 12/2015 - 07/2007
2	Autistic Disorder (Autism) 01/2021 - 01/2021
2	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021 - 09/2011
2	Renal Cell Carcinoma (Grawitz Tumor) 11/2020 - 01/2018
2	Leiomyomatosis 11/2020 - 01/2018
2	Muscle Hypotonia (Hypotonia) 09/2020 - 07/2014
2	Coffin-Siris syndrome 06/2020 - 01/2018
2	Inflammation (Inflammations) 01/2020 - 01/2019
2	Seizures (Absence Seizure) 12/2018 - 12/2014
2	Blindness (Hysterical Blindness) 12/2018 - 04/2011
2	Breast Neoplasms (Breast Cancer) 09/2018 - 03/2011
2	Pontocerebellar Hypoplasia 07/2016 - 01/2016
2	Dwarfism 01/2015 - 02/2008
2	Eye Abnormalities (Eye Abnormality) 07/2014 - 11/2004
2	Leukemia 09/2011 - 08/2002
2	Coronary Disease (Coronary Heart Disease) 10/2010 - 08/2009
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 05/2022
1	Metabolic Diseases (Metabolic Disease) 05/2022
1	Vision Disorders (Hemeralopia) 05/2022
1	Ciliopathies 01/2022
1	Parkinsonian Disorders (Parkinsonism) 01/2021
1	Schizophrenia (Dementia Praecox) 01/2021
1	Polymicrogyria 11/2020
1	Cognitive Dysfunction 11/2020
1	Leiomyoma (Uterine Fibroids) 11/2020
1	Ataxia (Dyssynergia) 09/2020
1	Pathologic Nystagmus 09/2020
1	Central Hearing Loss 09/2020
1	Myeloperoxidase Deficiency 01/2020
1	Skin Diseases (Skin Disease) 01/2020
1	Wilms Tumor (Wilm's Tumor) 01/2019
1	autosomal recessive 1 Spinocerebellar ataxia 12/2018
1	Hereditary Optic Atrophies 12/2018
1	congenital stationary Night blindness 12/2018
1	Color Vision Defects (Color Blindness) 12/2018
1	Medullary Carcinoma 01/2018
1	Synucleinopathies 01/2018
1	Developmental Disabilities (Developmental Disability) 01/2018
1	Language Development Disorders (Semantic-Pragmatic Disorder) 10/2017

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2007
5	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 11/2003
4	Transcription Factors (Transcription Factor)IBA 01/2021 - 06/2010
4	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 01/2019 - 04/2008
4	ChromatinIBA 01/2018 - 08/2002
4	RNA (Ribonucleic Acid)IBA 01/2018 - 10/2009
3	Nonsense Codon (Nonsense Mutation)IBA 06/2020 - 11/2010
3	EnzymesIBA 01/2020 - 09/2008
3	Mucin-1 (CA 15-3 Antigen)IBA 01/2018 - 09/2014
3	Messenger RNA (mRNA)IBA 06/2015 - 11/2005
2	Fumarate Hydratase (Fumarase)IBA 11/2020 - 01/2018
2	CytokinesIBA 01/2020 - 03/2012
2	A-Form DNA (A-DNA)IBA 12/2018 - 01/2005
2	Adenosine Triphosphatases (ATPase)IBA 11/2018 - 09/2016
2	SynucleinsIBA 01/2018 - 01/2016
2	splicing endonucleaseIBA 07/2016 - 01/2016
2	Fc gamma receptor IIAIBA 11/2012 - 08/2009
2	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 12/2011 - 06/2007
2	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 09/2007 - 11/2005
2	laminin beta2 (S-laminin)IBA 02/2007 - 11/2004
2	Amino Acids FDA Link 01/2006 - 01/2003
1	SteroidsIBA 05/2022
1	Protein AggregatesIBA 01/2021
1	Levodopa (L Dopa)FDA LinkGeneric 01/2021
1	Transcription Factor 4IBA 01/2021
1	Extracellular Matrix ProteinsIBA 11/2020
1	Laminin (Merosin)IBA 11/2020
1	Peroxidase (Myeloperoxidase)IBA 01/2020
1	Peptide Hydrolases (Proteases)FDA Link 01/2020
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2019
1	Monophenol Monooxygenase (Tyrosinase)IBA 01/2019
1	Polynucleotide 5'-Hydroxyl-Kinase (Kinase, Polynucleotide)IBA 12/2018
1	Calcium Channels (Calcium Channel)IBA 12/2018
1	Indicators and Reagents (Reagents)IBA 09/2018
1	Small Interfering RNA (siRNA)IBA 01/2018
1	Histones (Histone)IBA 01/2018
1	Sucrose (Saccharose)IBA 01/2018
1	F-Box ProteinsIBA 01/2018
1	Biomarkers (Surrogate Marker)IBA 11/2017
1	Interleukin-4 (Interleukin 4)IBA 11/2017
1	TATA-Box Binding Protein (TATA-Binding Protein)IBA 03/2017

Therapy/Procedure

3	Therapeutics 01/2021 - 01/2012
2	Ligation 01/2019 - 01/2016
1	Telescopes 09/2020
1	Mastectomy (Mammectomy) 04/2017
1	Salpingo-oophorectomy 04/2017