Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13
- 17 June 2010
- journal article
- other
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 87 (1), 95-100
- https://doi.org/10.1016/j.ajhg.2010.05.012
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical courseAmerican Journal of Medical Genetics Part A, 2009
- MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsJournal of Medical Genetics, 2009
- The Tumor Suppressor Function of Human Sulfatase 1 (SULF1) in CarcinogenesisJournal of Gastrointestinal Cancer, 2008
- Secreted Sulfatases Sulf1 and Sulf2 Have Overlapping yet Essential Roles in Mouse Neonatal SurvivalPLOS ONE, 2007
- Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)American Journal of Human Genetics, 2007
- Downregulation of Osteoblast Markers and Induction of the Glial Fibrillary Acidic Protein by Oncostatin M in Osteosarcoma Cells Require PKCδ and STAT3Journal of Bone and Mineral Research, 2004
- Mutations in a new member of the chromodomain gene family cause CHARGE syndromeNature Genetics, 2004
- QSulf1 remodels the 6-O sulfation states of cell surface heparan sulfate proteoglycans to promote Wnt signalingThe Journal of cell biology, 2003
- Mesomelic Dysplasia With Specific Autopodal Synostoses: A Third Observation And Further Delineation Of The Multiple Congenital Anomaly SyndromePediatric Pathology & Molecular Medicine, 2003
- Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodMethods, 2001