Progressive osseous heteroplasia, The Journal of Bone & Joint Surgery, vol.76, issue.3, pp.425-436, 1994. ,
DOI : 10.2106/00004623-199403000-00013
Gene in Progressive Osseous Heteroplasia, New England Journal of Medicine, vol.346, issue.2, pp.99-106, 2002. ,
DOI : 10.1056/NEJMoa011262
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins, Proceedings of the National Academy of Sciences, vol.95, issue.26, pp.15475-15480, 1998. ,
DOI : 10.1073/pnas.95.26.15475
The Genetic Basis of Progressive Osseous Heteroplasia, New England Journal of Medicine, vol.346, issue.2, pp.128-130, 2002. ,
DOI : 10.1056/NEJM200201103460212
Endocrine manifestations of stimulatory G protein -subunit mutations and the role of genomic imprinting, Endocr Rev, vol.22, pp.675-705, 2001. ,
Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance, The Journal of Clinical Endocrinology & Metabolism, vol.87, issue.1, pp.189-197, 2002. ,
DOI : 10.1210/jcem.87.1.8133
Variable and tissue-specific hormone resistance in heterotrimeric Gs protein ??-subunit (Gs??) knockout mice is due to tissue-specific imprinting of the Gs?? gene, Proceedings of the National Academy of Sciences, vol.95, issue.15, pp.8715-8720, 1998. ,
DOI : 10.1073/pnas.95.15.8715
Imprinting of the Gs?? gene GNAS1 in the pathogenesis of acromegaly, Journal of Clinical Investigation, vol.107, issue.6, pp.31-36, 2001. ,
DOI : 10.1172/JCI11887
Paternal imprinting of G??s in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a, Biochemical and Biophysical Research Communications, vol.296, issue.1, pp.67-72, 2002. ,
DOI : 10.1016/S0006-291X(02)00833-1
The Gs?? Gene: Predominant Maternal Origin of Transcription in Human Thyroid Gland and Gonads, The Journal of Clinical Endocrinology & Metabolism, vol.87, issue.10, pp.4736-4740, 2002. ,
DOI : 10.1210/jc.2002-020183
Bonthron DT 2002 GNAS1 mutations and progressive osseous heteroplasia, N Engl J Med, vol.346, pp.1669-1671 ,
Progressive osseous heteroplasia in the face of a child, American Journal of Medical Genetics, vol.95, issue.1, pp.71-75, 2003. ,
DOI : 10.1002/ajmg.a.10170
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification, 2008. ,
Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene, Clinical and Experimental Dermatology, vol.15, issue.1, pp.77-80, 2004. ,
DOI : 10.1001/archderm.132.7.787
Deficiency of the ??-Subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification, Journal of Bone and Mineral Research, vol.8, issue.Suppl, pp.2074-2083, 2000. ,
DOI : 10.1359/jbmr.2000.15.11.2074
in the Development of Human Obesity, The Journal of Clinical Endocrinology & Metabolism, vol.92, issue.3, pp.1073-1079 ,
DOI : 10.1210/jc.2006-1497
Progressive Osseous Heteroplasia, Journal of Bone and Mineral Research, vol.1, issue.11, pp.2084-2094, 2000. ,
DOI : 10.1359/jbmr.2000.15.11.2084
Growth Hormone Deficiency in Pseudohypoparathyroidism Type 1a: Another Manifestation of Multihormone Resistance, The Journal of Clinical Endocrinology & Metabolism, vol.88, issue.9, pp.4059-4069, 2003. ,
DOI : 10.1210/jc.2003-030028
Fetal growth from the AUDIPOG study. II. Application for the diagnosis of intrauterine growth retardation], J Gynecol Obstet Biol Reprod, vol.25, pp.71-77, 1996. ,
Clinical and Biological Heterogeneity in Pseudohypoparathyroidism Syndrome, Hormone Research, vol.48, issue.3, pp.120-130, 1997. ,
DOI : 10.1159/000185501
Isolation and characterization of the human Gs alpha gene., Proceedings of the National Academy of Sciences, vol.85, issue.7, pp.2081-2085, 1988. ,
DOI : 10.1073/pnas.85.7.2081
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS, Journal of Clinical Investigation, vol.112, issue.8, pp.1255-1263 ,
DOI : 10.1172/JCI19159DS1
MethylScreen: DNA methylation density monitoring using quantitative PCR, BioTechniques, vol.43, issue.5, pp.683-693, 2007. ,
DOI : 10.2144/000112597
Cutaneous Ossification in Albright???s Hereditary Osteodystrophy, Dermatology, vol.186, issue.3, pp.205-209, 1993. ,
DOI : 10.1159/000247347
Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe the Effects of Splicing Mutations on Translated and Untranslated Messenger RNA, The American Journal of Human Genetics, vol.72, issue.4, pp.961-974, 2003. ,
DOI : 10.1086/374566
Spinal Cord Compression by Heterotopic Ossification Associated with Pseudohypoparathyroidism, Journal of International Medical Research, vol.55, issue.6, pp.364-368, 1997. ,
DOI : 10.1177/030006059702500607
URL : http://doi.org/10.1177/030006059702500607
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene, European Journal of Endocrinology, vol.152, issue.4, pp.515-519, 2005. ,
DOI : 10.1530/eje.1.01879
Biallelic Expression of the Gs?? Gene in Human Bone and Adipose Tissue, The Journal of Clinical Endocrinology & Metabolism, vol.89, issue.12, pp.6316-6319, 2004. ,
DOI : 10.1210/jc.2004-0558
Gene, Endocrinology, vol.146, issue.11, pp.4697-4709, 2005. ,
DOI : 10.1210/en.2005-0681
Heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy, 89th Annual Meeting of, pp.4-90, 2007. ,
Skeletal abnormalities and extra-skeletal ossification in mice with restricted Gs?? deletion caused by a renin promoter-Cre transgene, Cell and Tissue Research, vol.95, issue.3, pp.487-501, 2007. ,
DOI : 10.1007/s00441-007-0491-6
GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs??, Human Molecular Genetics, vol.16, issue.16, pp.1921-1930, 2007. ,
DOI : 10.1093/hmg/ddm139
Determination of Gs protein activity in Albright's hereditary osteodystrophy, J Pediatr Endocrinol Metab, vol.19, issue.2, pp.647-651, 2006. ,
The imprinted signaling protein XL??s is required for postnatal adaptation to feeding, Nature Genetics, vol.69, issue.8, pp.818-826, 2004. ,
DOI : 10.1017/S0016672398003528
Receptor-Mediated Adenylyl Cyclase Activation Through XL??s, the Extra-Large Variant of the Stimulatory G Protein ??-Subunit, Molecular Endocrinology, vol.16, issue.8, pp.1912-1919 ,
DOI : 10.1210/me.2002-0054
Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3???,5???-Monophosphate Formation Mediated by Human XL??s, Endocrinology, vol.147, issue.5, pp.2253-2262, 2006. ,
DOI : 10.1210/en.2005-1487
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties, European Journal of Human Genetics, vol.129, issue.9, pp.1033-1039, 2005. ,
DOI : 10.1038/sj.ejhg.5201448
Physiological functions of the imprinted Gnas locus and its protein variants G??s and XL??s in human and mouse, Journal of Endocrinology, vol.196, issue.2, pp.193-214, 2008. ,
DOI : 10.1677/JOE-07-0544
(11) Hereditary osteoma cutis, British Journal of Dermatology, vol.87, issue.s24, pp.697-699, 1983. ,
DOI : 10.1111/j.1365-2133.1983.tb11619.x
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1439290
Progressive osseous heteroplasia, Progressive osseous heteroplasia, pp.768-771, 1998. ,
DOI : 10.1302/0301-620X.80B5.8626
Preimplantation Genetic Diagnosis for Severe Albright Hereditary Osteodystrophy, The Journal of Clinical Endocrinology & Metabolism, vol.93, issue.3, pp.901-904, 2008. ,
DOI : 10.1210/jc.2007-2040
A case of progressive osseous heteroplasia: a first case in Japan, Skeletal Radiology, vol.80, issue.6, pp.563-567, 2008. ,
DOI : 10.1007/s00256-008-0469-9
GNAS-associated disorders of cutaneous ossification: Two different clinical presentations, Bone, vol.46, issue.3, pp.868-872 ,
DOI : 10.1016/j.bone.2009.11.001
?? gene (GNAS1) in patients with Aibright hereditary osteodystrophy, Human Molecular Genetics, vol.4, issue.10, pp.2001-2002, 1995. ,
DOI : 10.1093/hmg/4.10.2001
Farfel Z 1996 Pseudohypoparathyroidism type la: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene, Hum Genet, vol.97, pp.73-75 ,
Activating and inactivating mutations in the human GNAS1 gene, Human Mutation, vol.4, issue.77, pp.183-189, 2000. ,
DOI : 10.1002/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L
Molecular Analysis of the GNAS1 Gene for the Correct Diagnosis of Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism, Pediatric Research, vol.29, issue.5, pp.749-755, 2003. ,
DOI : 10.1203/01.PDR.0000059752.07086.A2
Mutational Analysis of GNAS1 in Patients with Pseudohypoparathyroidism: Identification of Two Novel Mutations, Journal of Clinical Endocrinology & Metabolism, vol.85, issue.11, pp.4243-4248, 2000. ,
DOI : 10.1210/jc.85.11.4243
A heterozygous 4-bp deletion mutation in the Gs?? gene (GNAS1) in a patient with albright hereditary osteodystrophy, Genomics, vol.13, issue.4, pp.1319-1321 ,
DOI : 10.1016/0888-7543(92)90056-X
Brachydactyly in 14 Genetically Characterized Pseudohypoparathyroidism Type Ia Patients, The Journal of Clinical Endocrinology & Metabolism, vol.89, issue.4, pp.1650-1655, 2004. ,
DOI : 10.1210/jc.2003-030850