Andrew O M Wilkie Selected Research

Acrocephalosyndactylia (Apert Syndrome)

1/2022	Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.
10/2021	The developing mouse coronal suture at single-cell resolution.
1/2019	The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
10/2018	Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
1/2017	Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
5/2013	The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
3/2013	Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
2/2012	Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.
1/2012	Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men.
9/2011	A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

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Andrew O M Wilkie Research Topics

Disease

27	Craniosynostoses (Craniosynostosis) 01/2022 - 02/2002
11	Acrocephalosyndactylia (Apert Syndrome) 01/2022 - 04/2005
10	Synostosis 01/2022 - 11/2005
5	Craniofrontonasal dysplasia 04/2013 - 06/2004
4	Neoplasms (Cancer) 01/2019 - 02/2012
4	Achondroplasia 02/2012 - 04/2005
3	Hypertelorism 04/2013 - 06/2004
3	Muenke Syndrome 02/2009 - 08/2004
2	Hydrocephalus (Hydrocephaly) 01/2021 - 07/2008
2	Eczema 01/2019 - 09/2017
2	Chromosome Aberrations (Chromosome Abnormalities) 01/2019 - 06/2010
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2019 - 03/2013
2	Reinfection 01/2019 - 09/2017
2	Acrocephalopolysyndactyly Type II 11/2012 - 04/2011
2	Syndactyly (Polysyndactyly) 04/2011 - 08/2003
2	Craniofacial Dysostosis (Crouzon Disease) 08/2010 - 04/2005
2	type 2 Syndactyly 08/2003 - 04/2003
1	Congenital Abnormalities (Deformity) 01/2022
1	Cleft Palate (Palate, Cleft) 01/2022
1	Conductive Hearing Loss 01/2021
1	Job Syndrome (Hyper-IgE Syndrome) 01/2019
1	Coffin-Siris syndrome 01/2018
1	Developmental Disabilities (Developmental Disability) 01/2018
1	Congenital Heart Defects (Congenital Heart Defect) 01/2018
1	Intellectual Disability (Idiocy) 01/2018
1	Acute-Phase Reaction 09/2017
1	Bronchiectasis 09/2017
1	Eosinophilia 09/2017
1	Muscular Dystrophies (Muscular Dystrophy) 01/2017
1	Macrostomia 01/2017
1	Periventricular Nodular Heterotopia 12/2015
1	Learning Disabilities (Learning Disability) 09/2015
1	Coloboma (Colobomas) 02/2014
1	Sarcoma (Soft Tissue Sarcoma) 12/2013
1	Ter Haar syndrome 11/2012
1	Thanatophoric Dysplasia (Dwarfism, Thanatophoric) 02/2012
1	Neurocognitive Disorders (Clerambault Syndrome) 02/2012
1	Costello Syndrome 02/2012
1	Carcinogenesis 02/2012
1	Seminoma 01/2012
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2012
1	Multiple Endocrine Neoplasia (Multiple Endocrine Adenomatosis) 01/2012
1	Craniofacial Abnormalities 08/2011
1	Supernumerary Tooth (Supernumerary Teeth) 07/2011
1	Obesity 04/2011
1	Dysostoses 08/2010
1	Urinary Bladder Neoplasms (Bladder Cancer) 11/2009
1	Sensorineural Hearing Loss 01/2009
1	Hearing Loss (Hearing Impairment) 01/2009
1	Neural Tube Defects (Exencephaly) 06/2007
1	Congenital Diaphragmatic Hernias 07/2006

Drug/Important Bio-Agent (IBA)

9	Ephrin-B1 (Ephrin B1)IBA 01/2017 - 06/2004
7	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 01/2022 - 02/2002
6	Proteins (Proteins, Gene)FDA Link 01/2018 - 02/2002
4	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 03/2016 - 08/2004
4	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 02/2009 - 05/2005
3	NucleotidesIBA 01/2019 - 08/2004
3	Codon (Codons)IBA 01/2017 - 02/2007
3	Nonsense Codon (Nonsense Mutation)IBA 02/2014 - 04/2004
2	Immunoglobulin E (IgE)IBA 01/2019 - 09/2017
2	Interleukin-11 (Interleukin 11)IBA 01/2019 - 07/2011
2	Transcription Factors (Transcription Factor)IBA 01/2019 - 02/2013
2	ChromatinIBA 01/2018 - 01/2017
2	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 11/2009
2	Monomeric GTP-Binding ProteinsIBA 12/2013 - 04/2011
2	Biological ProductsIBA 02/2012 - 11/2005
2	LigandsIBA 01/2009 - 04/2005
2	EphrinsIBA 04/2006 - 06/2004
2	polyalanineIBA 08/2003 - 04/2003
1	RNA (Ribonucleic Acid)IBA 01/2022
1	Proto-Oncogene Proteins c-etsIBA 01/2021
1	factor AIBA 01/2019
1	Interleukin-6 (Interleukin 6)IBA 01/2019
1	Interleukin-27 (Interleukin 27)IBA 01/2019
1	5' Untranslated Regions (5' UTR)IBA 10/2018
1	Histones (Histone)IBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 01/2018
1	Glutamic Acid (Glutamate)FDA Link 01/2017
1	Tyrosine (L-Tyrosine)FDA Link 03/2016
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 03/2016
1	Complementary DNA (cDNA)IBA 01/2016
1	FilaminsIBA 12/2015
1	Cell Surface ReceptorsIBA 12/2013
1	Basic Helix-Loop-Helix Transcription FactorsIBA 03/2013
1	Epidermal Growth Factor (EGF)IBA 11/2012
1	AntibodiesIBA 01/2012
1	Genetic Markers (Genetic Marker)IBA 06/2010
1	Arginine (L-Arginine)FDA Link 02/2007
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 02/2007
1	Ephrin-A4 (Ephrin A4)IBA 04/2006

Therapy/Procedure

17	Sutures (Suture) 01/2022 - 02/2002
3	Therapeutics 01/2022 - 01/2009
2	Ventriculoperitoneal Shunt 01/2021 - 07/2008
1	Hearing Aids (Hearing Aid) 01/2021
1	Enteral Nutrition (Feeding, Tube) 01/2021
1	Tracheostomy 01/2021
1	Radiotherapy 01/2019
1	Aftercare (After-Treatment) 01/2019
1	Drug Therapy (Chemotherapy) 01/2019
1	Craniotomy 07/2008