Victor L Ruiz-Perez Selected Research

Weyers acrofacial dysostosis

11/2009

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

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Victor L Ruiz-Perez Research Topics

Disease

4	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia) 01/2012 - 08/2007
2	Osteoporosis 08/2021 - 07/2010
2	Osteogenesis Imperfecta (Lobstein Disease) 05/2014 - 07/2010
2	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2006 - 04/2003
1	Intervertebral disc disease 08/2021
1	Back Pain (Backache) 08/2021
1	Dehydration (Water Stress) 08/2021
1	type 2 Syndactyly 01/2021
1	Minicore Myopathy with External Ophthalmoplegia 01/2019
1	Muscular Diseases (Myopathy) 01/2019
1	Congenital Abnormalities (Deformity) 01/2018
1	Neu Laxova syndrome 06/2015
1	Hypertrophy 01/2012
1	Bone Fractures (Bone Fracture) 07/2010
1	Weyers acrofacial dysostosis 11/2009
1	Tooth Abnormalities 11/2009

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2019 - 04/2003
2	Nonsense Codon (Nonsense Mutation)IBA 01/2018 - 06/2015
2	Collagen Type I (Type I Collagen)IBA 05/2014 - 07/2010
1	CollagenIBA 08/2021
1	MineralsIBA 08/2021
1	MAP-kinase-activated kinase 5IBA 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2019
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	Serine (L-Serine)FDA Link 06/2015
1	Phosphoglycerate Dehydrogenase (Dehydrogenase, Phosphoglycerate)IBA 06/2015
1	Bone Morphogenetic Protein 1IBA 05/2014
1	Parathyroid Hormone-Related ProteinIBA 01/2012
1	Amino Acids FDA Link 11/2009
1	LigandsIBA 11/2009

Therapy/Procedure

1	Therapeutics 08/2021