Eamonn R Maher Selected Research

Multiple pterygium syndrome

12/2014	Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
1/2012	CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
8/2006	Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

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Eamonn R Maher Research Topics

Disease

33	Neoplasms (Cancer) 01/2022 - 05/2002
21	Renal Cell Carcinoma (Grawitz Tumor) 01/2022 - 05/2002
14	Paraganglioma (Paragangliomas) 01/2022 - 10/2002
13	Hypoxia (Hypoxemia) 01/2022 - 05/2002
9	Pheochromocytoma 01/2022 - 07/2002
6	von Hippel-Lindau Disease (von Hippel Lindau Disease) 01/2022 - 07/2002
6	Kidney Neoplasms (Kidney Cancer) 01/2020 - 05/2002
6	Congenital Hypothyroidism (Cretinism) 10/2018 - 08/2013
6	Colorectal Neoplasms (Colorectal Cancer) 11/2015 - 03/2002
5	Carcinogenesis 01/2019 - 04/2009
4	Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer) 12/2012 - 09/2002
3	Brain Diseases (Brain Disorder) 05/2017 - 10/2010
3	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 10/2016 - 12/2007
3	Multiple pterygium syndrome 12/2014 - 08/2006
3	Cone Dystrophy 01/2012 - 06/2004
3	Breast Neoplasms (Breast Cancer) 04/2011 - 10/2002
3	AIDS-Related Complex (ARC) 04/2010 - 10/2006
3	Leukemia 02/2010 - 04/2009
3	Neurofibromatosis 1 (Neurofibromatosis Type I) 08/2009 - 10/2002
3	Multiple Endocrine Neoplasia Type 2a (MEN 2) 08/2009 - 10/2002
2	Neoplasm Metastasis (Metastasis) 01/2021 - 04/2004
2	Inflammation (Inflammations) 01/2019 - 08/2016
2	Seizures (Absence Seizure) 05/2017 - 10/2010
2	Imprinting Disorders 10/2016 - 01/2016
2	Hypothyroidism 01/2015 - 01/2012
2	Intellectual Disability (Idiocy) 11/2014 - 09/2002
2	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 11/2014 - 01/2012
2	Glioma (Gliomas) 07/2014 - 07/2003
2	Ciliopathies 11/2013 - 10/2010
2	Jeune syndrome 11/2013 - 03/2011
2	Adenoma (Adenomas) 11/2012 - 12/2008
2	Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile) 05/2011 - 07/2006
2	Disease Progression 05/2011 - 10/2008
2	Neurodegeneration with brain iron accumulation (NBIA) 05/2011 - 07/2006
2	Movement Disorders (Movement Disorder) 06/2009 - 11/2004
2	Neuroblastoma 09/2008 - 09/2003
2	Inborn Genetic Diseases (Disease, Hereditary) 09/2007 - 07/2006
2	Hemangioblastoma 04/2006 - 07/2002
2	Warburg Sjo Fledelius syndrome 04/2006 - 03/2005
1	Hereditary leiomyomatosis and renal cell cancer 01/2020
1	Fever (Fevers) 01/2019
1	Panniculitis 01/2019
1	Goiter 10/2018

Drug/Important Bio-Agent (IBA)

22	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2002
13	Succinate Dehydrogenase (Fumarate Reductase)IBA 11/2020 - 10/2002
8	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 07/2003
8	Retinaldehyde (Retinal)IBA 01/2022 - 07/2002
7	Transcription Factors (Transcription Factor)IBA 04/2016 - 05/2002
5	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 11/2015 - 12/2008
4	Succinic Acid (Succinate)IBA 01/2022 - 03/2018
4	EnzymesIBA 01/2020 - 03/2018
4	UbiquitinIBA 01/2019 - 06/2002
4	Biological ProductsIBA 04/2016 - 12/2009
4	Biomarkers (Surrogate Marker)IBA 11/2013 - 09/2008
4	Resistant StarchIBA 12/2012 - 12/2008
4	Messenger RNA (mRNA)IBA 03/2012 - 05/2002
4	Protein Isoforms (Isoforms)IBA 06/2011 - 11/2004
4	Decitabine FDA Link 03/2011 - 07/2003
3	Oxygen (Dioxygen)IBA 01/2022 - 12/2004
3	Thyroid HormonesIBA 10/2018 - 08/2013
3	Cone OpsinsIBA 11/2014 - 07/2010
3	Membrane Proteins (Integral Membrane Proteins)IBA 11/2013 - 10/2006
3	Starch (Cornstarch)IBA 12/2012 - 12/2008
3	Cadherins (E-Cadherin)IBA 11/2012 - 03/2002
3	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 06/2009 - 07/2002
3	CatecholaminesIBA 06/2009 - 04/2004
2	FumaratesIBA 01/2022 - 01/2020
2	Somatostatin (Somatotropin Release-Inhibiting Factor)IBA 01/2021 - 03/2012
2	Deubiquitinating EnzymesIBA 01/2019 - 08/2016
2	IodidesIBA 10/2018 - 01/2015
2	SilverIBA 10/2016 - 01/2016
2	Thyrotropin Receptors (Thyrotropin Receptor)IBA 11/2014 - 01/2012
2	Azacitidine (5 Azacytidine)FDA Link 09/2013 - 09/2008
2	RNA (Ribonucleic Acid)IBA 05/2013 - 09/2003
2	Cholinergic ReceptorsIBA 01/2012 - 08/2006
2	IronIBA 05/2011 - 07/2006
2	Phospholipases A2 (Phospholipase A2)IBA 05/2011 - 07/2006
2	Phospholipases (Phospholipase)IBA 06/2010 - 07/2006
2	Nonsense Codon (Nonsense Mutation)IBA 04/2010 - 06/2004
2	Amino Acids FDA Link 02/2007 - 05/2002
2	CalciumIBA 07/2006 - 04/2006
2	Hormones (Hormone)IBA 04/2006 - 03/2005
2	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 04/2006 - 03/2005
2	Neurotransmitter Agents (Neurotransmitter)IBA 04/2006 - 03/2005
2	NucleotidesIBA 09/2002 - 05/2002
2	Cyclin D1IBA 07/2002 - 03/2002
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2022
1	Cullin Proteins (Cullins)IBA 01/2022
1	ElonginIBA 01/2022
1	Oxidoreductases (Dehydrogenase)IBA 01/2021
1	Indoleamine-Pyrrole 2,3,-Dioxygenase (Indoleamine 2,3 Dioxygenase)IBA 01/2020
1	Fumarate Hydratase (Fumarase)IBA 01/2020
1	KynurenineIBA 01/2020
1	Protons (Proton)IBA 01/2020
1	PolyubiquitinIBA 01/2019
1	AnionsIBA 10/2018

Therapy/Procedure

8	Therapeutics 01/2021 - 04/2004
3	Aftercare (After-Treatment) 09/2013 - 09/2008
2	Precision Medicine 10/2020 - 04/2011
1	Stem Cell Transplantation 01/2019