Sofia Douzgou Selected Research

Burn-Mckeown syndrome

1/2020

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

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Sofia Douzgou Research Topics

Disease

5	Intellectual Disability (Idiocy) 01/2021 - 10/2009
2	Seizures (Absence Seizure) 09/2017 - 10/2009
1	Holoprosencephaly (Arhinencephaly) 01/2022
1	Hypopituitarism (Sheehan's Syndrome) 01/2022
1	Neurodevelopmental Disorders 11/2021
1	Burn-Mckeown syndrome 01/2020
1	Albinism 01/2020
1	Cataract (Cataracts) 01/2020
1	Ectopia Lentis 01/2020
1	Ocular Albinism 11/2019
1	Autism Spectrum Disorder 01/2019
1	Megalencephaly 01/2019
1	Muscle Hypotonia (Hypotonia) 09/2017
1	Laryngostenosis 04/2016
1	Prognathism 04/2016
1	Growth mental deficiency syndrome of Myhre 04/2016
1	Joint Diseases (Joint Disease) 04/2016
1	Hypertrichosis 10/2009
1	Gingival Overgrowth 10/2009

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2016
2	Transcription Factors (Transcription Factor)IBA 01/2022 - 02/2013
1	ChromatinIBA 11/2021
1	RNA Splicing FactorsIBA 01/2020
1	Retinaldehyde (Retinal)IBA 01/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Glutamine (L-Glutamine)FDA Link 11/2019
1	DNA HelicasesIBA 01/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	MEF2 Transcription FactorsIBA 09/2017
1	Transforming Growth Factors (Transforming Growth Factor)IBA 04/2016
1	Anticonvulsants (Antiepileptic Drugs)IBA 10/2009