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type I c pseudohypoparathyroidism 相关文献:
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS.
N Engl J Med. 2021 Oct 21;385(17):1581-1592. doi: 10.1056/NEJMoa2103329. Epub 2021 Oct 6.
PMID:34614324
Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a.
Itoh M, Okajima M, Kittaka Y, Yachie A, Wada T, Saikawa Y.
Bone Rep. 2022 Apr 14;16:101569. doi: 10.1016/j.bonr.2022.101569. eCollection 2022 Jun.
PMID:35497370
Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, alpha-Stimulating Gene.
Kotanidou EP, Tsinopoulou VR, Serbis A, Litou E, Galli-Tsinopoulou A.
J Bone Metab. 2021 Feb;28(1):85-89. doi: 10.11005/jbm.2021.28.1.85. Epub 2021 Feb 28.
PMID:33730787
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
Kashani P, Roy M, Gillis L, Ajani O, Samaan MC.
Case Rep Med. 2016;2016:7645938. doi: 10.1155/2016/7645938. Epub 2016 Sep 14.
PMID:27703483
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T.
J Endocr Soc. 2017 Nov 21;2(1):9-23. doi: 10.1210/js.2017-00293. eCollection 2018 Jan 1.
PMID:29379892
C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature.
Ferrari D, Pandozzi C, Filice A, Nardi C, Cozzolino A, Melcarne R, Giacomelli L, Biffoni M, Di Gioia C, Merenda E, Del Sindaco G, Pagnano A, Pofi R, Giannetta E.
J Clin Med. 2023 Dec 6;12(24):7525. doi: 10.3390/jcm12247525.
PMID:38137593
[Pseudohypoparathyroidism].
Yamamoto M, Akatsu T.
Nihon Rinsho. 1995 Apr;53(4):991-7.
PMID:7752498
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.
Lee YS, Kim HK, Kim HR, Lee JY, Choi JW, Bae EJ, Oh PS, Park WI, Ki CS, Lee HJ.
Korean J Pediatr. 2014 May;57(5):240-4. doi: 10.3345/kjp.2014.57.5.240. Epub 2014 May 31.
PMID:25045367
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.
Moutinho A, Carvalho R, Ferreira Reis R, Tavares S.
Case Rep Endocrinol. 2018 Jan 22;2018:7813591. doi: 10.1155/2018/7813591. eCollection 2018.
PMID:29796323
A novel mutation in a case of pseudohypoparathyroidism type Ia.
Kırel B, Demiral M, Bozdağ Ö, Karaer K.
Turk J Pediatr. 2016;58(1):101-105. doi: 10.24953/turkjped.2016.01.016.
PMID:27922245
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