Sabine Sigaudy Selected Research

Facioscapulohumeral Muscular Dystrophy

2/2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

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Sabine Sigaudy Research Topics

Disease

2	Intellectual Disability (Idiocy) 12/2023 - 08/2003
2	Laminopathies 08/2015 - 05/2014
1	Neurodevelopmental Disorders 10/2023
1	Congenital Heart Defects (Congenital Heart Defect) 09/2023
1	DiGeorge Syndrome (Syndrome, DiGeorge) 09/2023
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2022
1	Autistic Disorder (Autism) 01/2022
1	Mucopolysaccharidoses 01/2022
1	Cysts 01/2020
1	Micrognathism 12/2019
1	Microcephaly 01/2018
1	Facioscapulohumeral Muscular Dystrophy 02/2017
1	Cardiofaciocutaneous syndrome 02/2016
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2016
1	Progeria (Hutchinson Gilford Syndrome) 08/2015
1	Premature Aging 08/2015
1	Autism Spectrum Disorder 08/2014
1	SHORT syndrome 05/2014
1	Carcinogenesis 05/2014
1	Liver Diseases (Liver Disease) 02/2013
1	Polydactyly (Polydactylism) 02/2013
1	Diarrhea 02/2012
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 12/2007
1	Costello Syndrome 12/2007
1	Stuve-Wiedemann syndrome 02/2004
1	Smith-Lemli-Opitz Syndrome 08/2003

Drug/Important Bio-Agent (IBA)

2	DNA (Deoxyribonucleic Acid)IBA 09/2023 - 02/2016
2	Retinaldehyde (Retinal)IBA 01/2020 - 02/2013
2	Proteins (Proteins, Gene)FDA Link 01/2018 - 05/2014
2	LaminsIBA 08/2015 - 05/2014
1	SulfotransferasesIBA 12/2023
1	Biomarkers (Surrogate Marker)IBA 10/2023
1	GalactosidasesIBA 01/2022
1	NucleotidesIBA 01/2022
1	RNA (Ribonucleic Acid)IBA 01/2020
1	Indicators and Reagents (Reagents)IBA 12/2019
1	1,3-alpha-D-glucan synthaseIBA 01/2016
1	prelamin AIBA 08/2015
1	Protein Isoforms (Isoforms)IBA 08/2015
1	CationsIBA 08/2014
1	PhosphotyrosineIBA 05/2014
1	Lamin Type A (Lamin A)IBA 05/2014
1	Vasoactive Intestinal Peptide (VIP (Vasoactive Intestinal Peptide))IBA 02/2012
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 12/2007
1	OSM-LIF ReceptorsIBA 02/2004
1	CholesterolIBA 08/2003

Therapy/Procedure

2	Therapeutics 02/2017 - 05/2014