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Weinstein LS, Yu S, Warner DR, Liu J (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. <i>Endocr Rev<\/i> 22: 675-705."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Mantovani G (2011) Clinical review: Pseudohypopara-thyroidism: diagnosis and treatment. <i>J Clin Endocrinol Metab<\/i> 96: 3020-3030.","DOI":"10.1210\/jc.2011-1048"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Bastepe M, Fr&ouml;hlich LF, Hendy GN, Indridason OS, Josse RG, et al. (2003) Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. <i>J Clin Invest<\/i> 112: 1255-1263.","DOI":"10.1172\/JCI19159"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M (2005) A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. <i>Am J Hum Genet<\/i> 76: 804-814.","DOI":"10.1086\/429932"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. de Sanctis L, Bellone J, Salerno M, Faleschini E, Caruso-Nicoletti M, et al. (2007) GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. <i>J Endocrinol Invest<\/i> 30: 97-103.","DOI":"10.1007\/BF03347406"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, et al. (2003) Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs alpha gene. <i>J Clin Endocrinol Metab<\/i> 88: 4070-4074.","DOI":"10.1210\/jc.2002-022028"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA (2003) Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. <i>J Clin Endocrinol Metab<\/i> 88: 4059-4069.","DOI":"10.1210\/jc.2003-030028"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Fernandez-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez de Nanclares G, et al. (2013) Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. <i>J Clin Endocrinol Metab<\/i> 98: E996-E1006.","DOI":"10.1210\/jc.2012-4164"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Alatzoglou KS, Dattani MT (2010) Genetic causes and treatment of isolated growth hormone deficiency-an update. <i>Nat Rev Endocrinol<\/i> 6: 562-576.","DOI":"10.1038\/nrendo.2010.147"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A (2002) The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. <i>J Clin Endocrinol Metab<\/i> 87: 4736-4740.","DOI":"10.1210\/jc.2002-020183"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, et al. (2001) Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. <i>J Clin Invest<\/i> 107: R31-36.","DOI":"10.1172\/JCI11887"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Zazo C, Thiele S, Martin C, Fernandez-Rebollo E, Martinez-Indart L, et al. (2011) Gsalpha activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus. <i>J Bone Miner Res<\/i> 26: 1864-1870.","DOI":"10.1002\/jbmr.369"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, et al. (2010) Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. <i>J Clin Endocrinol Metab<\/i> 95: 651-658.","DOI":"10.1210\/jc.2009-0176"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Elli FM, de Sanctis L, Bollati V, Tarantini L, Filopanti M, et al. (2014) Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations. <i>J Clin Endocrinol Metab<\/i> 99: E508-E517.","DOI":"10.1210\/jc.2013-3086"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. de Waal WJ, Hokken-Koelega AC, Stijnen T, de Muinck Keizer-Schrama SM, Drop SL (1994) Endogenous and stimulated GH secretion, urinary GH excretion, and plasma IGF-I and IGF-II levels in prepubertal children with short stature after intrauterine growth retardation. The Dutch Working Group on Growth Hormone. <i>Clin Endocrinol<\/i> 41: 621-630.","DOI":"10.1111\/j.1365-2265.1994.tb01828.x"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Nussbaum RL, McInnes RR, Willard HF (2007) Pattrens of single-gene inheritance. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson &amp; Thompson Genetics in Medicine. (7th). Saunders Elsevier, Philadelphia, USA: 115-149.","DOI":"10.1016\/B978-1-4160-3080-5.50009-2"},{"key":"17","unstructured":"17. Murata M, Matsuo N, Tanaka T, Ohtsuki F, Ashizawa K, et al. (1993) Radiographic atlas of skeletal development for the Japanese. 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