Associated Papers
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Alexeeva E et al.
Frontiers in Medicine, 2023
Primary failure of tooth eruption: Etiology and management.
Yamaguchi T et al.
The Japanese Dental Science Review, 2022
Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause.
Reyes M et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2020
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.
Yeetong P et al.
Skeletal Radiology, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M et al.
Archives of Oral Biology, 2016
FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.
Zhou S et al.
Plos Genetics, 2015
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Pansuriya TC et al.
Nature Genetics, 2011
Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.
Pansuriya TC et al.
Genes, Chromosomes & Cancer, 2011
Genome-wide analysis of Ollier disease: Is it all in the genes?
Pansuriya TC et al.
Orphanet Journal of Rare Diseases, 2011
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
Collinson M et al.
American Journal of Medical Genetics. Part A, 2010
Enchondromatosis: insights on the different subtypes.
Pansuriya TC et al.
International Journal of Clinical and Experimental Pathology, 2010
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Couvineau A et al.
Human Molecular Genetics, 2008
Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.
Yan T et al.
Clinical Orthopaedics and Related Research, 2008
Hereditary multiple exostoses and enchondromatosis.
Pannier S et al.
Best Practice & Research. Clinical Rheumatology, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.
Rozeman LB et al.
Cancer, 2006
[Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways].
Bonaventure J et al.
Medecine Sciences : M/s, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.
Rozeman LB et al.
Human Mutation, 2004
A mutant PTH/PTHrP type I receptor in enchondromatosis.
Hopyan S et al.
Nature Genetics, 2002
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0