F. Kaplan, R. Craver, G. Macewen, F. Gannon, G. Finkel et al., Progressive osseous heteroplasia, The Journal of Bone & Joint Surgery, vol.76, issue.3, pp.425-436, 1994.
DOI : 10.2106/00004623-199403000-00013

E. Shore, J. Ahn, J. De-beur, S. Li, M. Xu et al., Gene in Progressive Osseous Heteroplasia, New England Journal of Medicine, vol.346, issue.2, pp.99-106, 2002.
DOI : 10.1056/NEJMoa011262

B. Hayward, V. Moran, L. Strain, and D. Bonthron, 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

H. Jü-ppner, The Genetic Basis of Progressive Osseous Heteroplasia, New England Journal of Medicine, vol.346, issue.2, pp.128-130, 2002.
DOI : 10.1056/NEJM200201103460212

L. Weinstein, S. Yu, D. Warner, and J. Liu, Endocrine manifestations of stimulatory G protein -subunit mutations and the role of genomic imprinting, Endocr Rev, vol.22, pp.675-705, 2001.

A. Linglart, J. Carel, M. Garabédian, T. Lé, E. Mallet et al., 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

S. Yu, D. Yu, E. Lee, M. Eckhaus, R. Lee et al., 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

B. Hayward, A. Barlier, M. Korbonits, A. Grossman, P. Jacquet et al., 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

E. Germain-lee, C. Ding, Z. Deng, J. Crane, M. Saji et al., 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

G. Mantovani, E. Ballare, E. Giammona, P. Beck-peccoz, and A. Spada, 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

S. Ahmed and D. Barr, Bonthron DT 2002 GNAS1 mutations and progressive osseous heteroplasia, N Engl J Med, vol.346, pp.1669-1671

R. Faust, E. Shore, C. Stevens, M. Xu, S. Shah et al., 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

N. Adegbite, M. Xu, F. Kaplan, E. Shore, and R. Pignolo, Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification, 2008.

I. Chan, T. Hamada, C. Hardman, J. Mcgrath, and F. Child, 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

M. Eddy, J. D. Beur, S. Yandow, S. Mcalister, W. Shore et al., 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

D. Long, S. Mcguire, M. Levine, and L. Weinstein, 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

F. Kaplan and E. Shore, 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

E. Germain-lee, J. Groman, J. Crane, S. De-beur, and M. Levine, 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

N. Mamelle, F. Munoz, J. Martin, B. Laumon, and H. Grandjean, 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.

C. Marguet, E. Mallet, J. Basuyau, D. Martin, M. Leroy et al., Clinical and Biological Heterogeneity in Pseudohypoparathyroidism Syndrome, Hormone Research, vol.48, issue.3, pp.120-130, 1997.
DOI : 10.1159/000185501

T. Kozasa, H. Itoh, T. Tsukamoto, and Y. Kaziro, 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

M. Bastepe, L. Frö-hlich, G. Hendy, O. Indridason, R. Josse et al., 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

H. Holemon, Y. Korshunova, J. Ordway, J. Bedell, R. Citek et al., MethylScreen: DNA methylation density monitoring using quantitative PCR, BioTechniques, vol.43, issue.5, pp.683-693, 2007.
DOI : 10.2144/000112597

R. Trü-eb, R. Panizzon, and G. Burg, Cutaneous Ossification in Albright???s Hereditary Osteodystrophy, Dermatology, vol.186, issue.3, pp.205-209, 1993.
DOI : 10.1159/000247347

S. Rickard and L. Wilson, 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

Y. Yamamoto, Y. Noto, M. Saito, H. Ichizen, and H. Kida, 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

F. Riepe, W. Ahrens, N. Krone, R. Fö-lster-holst, J. Brasch et al., 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

G. Mantovani, S. Bondioni, M. Locatelli, C. Pedroni, A. Lania et al., 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

E. Germain-lee, W. Schwindinger, J. Crane, R. Zewdu, L. Zweifel et al., Gene, Endocrinology, vol.146, issue.11, pp.4697-4709, 2005.
DOI : 10.1210/en.2005-0681

D. Huso, S. Mcguire, and E. Germain-lee, Heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy, 89th Annual Meeting of, pp.4-90, 2007.

H. Castrop, M. Oppermann, D. Mizel, Y. Huang, R. Faulhaber-walter et al., 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

S. Michienzi, N. Cherman, K. Holmbeck, A. Funari, M. Collins et al., 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

W. Ahrens and O. Hiort, Determination of Gs protein activity in Albright's hereditary osteodystrophy, J Pediatr Endocrinol Metab, vol.19, issue.2, pp.647-651, 2006.

A. Plagge, E. Gordon, W. Dean, R. Boiani, S. Cinti et al., 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

M. Bastepe, Y. Gunes, B. Perez-villamil, J. Hunzelman, and L. Weinstein, 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

A. Linglart, M. Mahon, M. Kerachian, D. Berlach, G. Hendy et al., 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

D. Geneviève, D. Sanlaville, L. Faivre, M. Kottler, M. Jambou et al., 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

A. Plagge, G. Kelsey, and E. Germain-lee, 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

H. Fawcett and R. Marsden, (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

J. Urtizberea, H. Testart, F. Cartault, L. Boccon-gibod, L. Merrer et al., Progressive osseous heteroplasia, Progressive osseous heteroplasia, pp.768-771, 1998.
DOI : 10.1302/0301-620X.80B5.8626

S. Lietman, J. Goldfarb, N. Desai, and M. Levine, 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

K. Kumagai, K. Motomura, M. Egashira, M. Tomita, M. Suzuki et al., 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

R. Schimmel, S. Pasmans, M. Xu, S. Stadhouders-keet, E. Shore et al., 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

S. Yu, D. Yu, B. Hainline, J. Brener, K. Wilson et al., ?? 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

H. Shapira, M. Mouallem, M. Shapiro, and Y. Weisman, 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

M. Aldred and R. Trembath, 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

D. Sanctis, L. Romagnolo, D. Olivero, M. Buzi, F. Maghnie et al., 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

G. Mantovani, R. Romoli, G. Weber, V. Brunelli, D. Menis et al., 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

L. Weinstein, P. Gejman, P. De-mazancourt, and N. American, 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

L. De-sanctis, S. Vai, M. Andreo, D. Romagnolo, L. Silvestro et al., 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