Anne M Slavotinek Selected Research

Anophthalmos (Anophthalmia)

1/2019	NAA10 polyadenylation signal variants cause syndromic microphthalmia.
8/2013	ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
12/2011	Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

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Anne M Slavotinek Research Topics

Disease

4	Microphthalmos 01/2019 - 12/2011
3	Anophthalmos (Anophthalmia) 01/2019 - 12/2011
2	Kabuki syndrome 10/2022 - 07/2014
2	Intellectual Disability (Idiocy) 12/2020 - 12/2017
2	Hydrocephalus (Hydrocephaly) 10/2016 - 10/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Familial Exudative Vitreoretinopathies 05/2021
1	Hemorrhage 05/2021
1	Retinal Degeneration 01/2021
1	Megalencephaly 12/2020
1	Dyslipidemias (Dyslipidemia) 09/2020
1	Obesity 09/2020
1	Floating-harbor syndrome 01/2020
1	Trichothiodystrophy Syndromes 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Brain Diseases (Brain Disorder) 11/2019
1	syndromic 1 Microphthalmia 01/2019
1	Cerebellar Ataxia (Dysmetria) 12/2017
1	Apraxias (Dyspraxia) 12/2017
1	Ataxia Telangiectasia (Louis Bar Syndrome) 12/2017
1	Atrophy 12/2017
1	Seizures (Absence Seizure) 12/2017
1	Cataract (Cataracts) 01/2017
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 10/2016
1	congenital Nephrosis 10/2016
1	Blindness (Hysterical Blindness) 10/2016
1	Vision Disorders (Hemeralopia) 10/2016
1	Nephrosis 10/2016
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 10/2016
1	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune) 01/2016
1	Stillbirth 01/2016
1	KBG syndrome 07/2014
1	Genomic Instability 01/2014
1	Anophthalmia with pulmonary hypoplasia 08/2013
1	Eye Diseases (Eye Disease) 08/2013
1	Disease Progression 03/2013
1	type 1 Atelosteogenesis 03/2013
1	Bronchopulmonary Dysplasia 03/2013
1	Agenesis of Corpus Callosum 02/2012
1	Cleft Lip (Harelip) 02/2012
1	Craniosynostoses (Craniosynostosis) 05/2010
1	Diaphragmatic Hernia 04/2010
1	Congenital Microtia 06/2009
1	Lupus Nephritis 06/2009
1	Congenital Heart Defects (Congenital Heart Defect) 06/2009
1	Esophageal Atresia 06/2009
1	Cleft Palate (Palate, Cleft) 06/2009
1	Fryns syndrome 06/2009
1	Congenital Diaphragmatic Hernias 06/2009
1	Tracheoesophageal Fistula 06/2009
1	Hypertelorism 09/2008
1	Hypospadias 09/2008
1	syndromic 2 Microphthalmia 07/2007
1	Propping Zerres syndrome 10/2005
1	Brain Ischemia (Cerebral Ischemia) 07/2002

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2020 - 04/2010
2	Retinaldehyde (Retinal)IBA 05/2021 - 01/2021
2	NucleotidesIBA 02/2012 - 10/2005
1	Histones (Histone)IBA 10/2022
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2022
1	NFI Transcription FactorsIBA 12/2020
1	Immunoglobulins (Immunoglobulin)IBA 11/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	AcetyltransferasesIBA 01/2019
1	ConnexinsIBA 01/2017
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 10/2016
1	Inosine Triphosphate (ITP)IBA 01/2016
1	MethyltransferasesIBA 07/2014
1	Lysine (L-Lysine)FDA Link 07/2014
1	Nerve Growth Factor Receptors (Neurotrophin Receptors)IBA 01/2014
1	UbiquitinIBA 01/2014
1	Vitamin A (Retinol)FDA LinkGeneric 08/2013
1	FilaminsIBA 03/2013
1	Transcription Factors (Transcription Factor)IBA 12/2011
1	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 05/2010
1	DecorinIBA 04/2010
1	CollagenIBA 04/2010
1	Mycophenolic Acid (Cellcept)FDA LinkGeneric 06/2009
1	Nonsense Codon (Nonsense Mutation)IBA 09/2008
1	Amino Acids FDA Link 09/2008
1	Co-Repressor ProteinsIBA 07/2007
1	MorpholinosIBA 07/2007
1	dimemorfan (AT 17)IBA 07/2002

Therapy/Procedure

1	Lasers (Laser) 05/2021
1	Therapeutics 09/2020
1	Mechanical Ventilators (Ventilator) 03/2013