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Best matches for ((pseudohypoparathyroidism) OR (pseudopseudohypoparathyroidism)):

Pseudohypoparathyroidism. Linglart A et al. Endocrinol Metab Clin North Am. (2018)

Pseudohypoparathyroidism. Cianferotti L et al. Minerva Endocrinol. (2018)

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. Wu YL et al. PLoS One. (2014)

Search results

Items: 1 to 20 of 1904

1.

Craniosynostosis and metabolic bone disorder. A review.

Di Rocco F, Rothenbuhler A, Daire VC, Bacchetta J, Adamsbaum C, Baujat G, Rossi M, Lingart A.

Neurochirurgie. 2019 Sep 25. pii: S0028-3770(19)30219-X. doi: 10.1016/j.neuchi.2019.09.008. [Epub ahead of print]

PMID:
31562881
2.

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.

Elli FM, de Sanctis L, Madeo B, Maffini MA, Bordogna P, Pirelli A, Arosio M, Mantovani G.

Front Endocrinol (Lausanne). 2019 Aug 29;10:604. doi: 10.3389/fendo.2019.00604. eCollection 2019.

3.

Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.

Han SR, Lee YA, Shin CH, Yang SW, Lim BC, Cho TJ, Ko JM.

Exp Clin Endocrinol Diabetes. 2019 Sep 23. doi: 10.1055/a-1001-3575. [Epub ahead of print]

PMID:
31546270
4.

Pseudohypoparathyroidism: A case of hypocalcemia and hypothyroidism diagnosed during the postpartum period.

Lim KP, Yong SL.

Malays Fam Physician. 2019 Apr 30;14(1):31-34. eCollection 2019.

5.

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

Munteanu M, Kiewert C, Matar N, Hauffa BP, Unger N, Hiort O, Thiele S, Buiting K, Bramswig NC, Grasemann C.

J Endocr Soc. 2019 May 20;3(7):1383-1389. doi: 10.1210/js.2019-00073. eCollection 2019 Jul 1.

6.

Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?

De Rose DU, Perri A, Gallini F, Priolo F, Tiberi E, Vento G, Zecca E.

Ann Pediatr Endocrinol Metab. 2019 Jun;24(2):129-132. doi: 10.6065/apem.2019.24.2.129. Epub 2019 Jun 30.

7.

A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report.

Liu XJ, Yan C, Jia JY.

Medicine (Baltimore). 2019 Jun;98(25):e16109. doi: 10.1097/MD.0000000000016109.

8.

Neonatal osteoma cutis due to a mutation in GNAS.

Levy-Shraga Y, Barel O, Javasky E, Barzilai A, Greenberger S.

Pediatr Dermatol. 2019 Sep;36(5):732-734. doi: 10.1111/pde.13879. Epub 2019 Jun 18.

PMID:
31215057
9.

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K.

Eur J Hum Genet. 2019 Nov;27(11):1649-1658. doi: 10.1038/s41431-019-0446-x. Epub 2019 Jun 11.

PMID:
31186545
10.

Management of pseudohypoparathyroidism.

Germain-Lee EL.

Curr Opin Pediatr. 2019 Aug;31(4):537-549. doi: 10.1097/MOP.0000000000000783.

11.

A Case of Soft Tissue Ossifications: A Case Report.

Arrigoni P, Minen A.

JBJS Case Connect. 2019 Apr-Jun;9(2):e0287. doi: 10.2106/JBJS.CC.18.00287.

PMID:
31085937
12.

A Framework for Approaching Refractory Hypocalcemia in Children.

Humphrey E, Clardy C.

Pediatr Ann. 2019 May 1;48(5):e208-e211. doi: 10.3928/19382359-20190423-01. Review.

PMID:
31067338
13.

Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM.

Am J Med Genet A. 2019 Jul;179(7):1330-1337. doi: 10.1002/ajmg.a.61163. Epub 2019 May 1.

PMID:
31041856
14.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T.

J Am Soc Nephrol. 2019 May;30(5):877-889. doi: 10.1681/ASN.2018121268. Epub 2019 Apr 8.

PMID:
30962325
15.
16.

Impaired amygdala-based learning and decreased anxiety in a murine model of pseudohypoparathyroidism type 1A.

Shoemaker AH, Paffenroth KC, Bingham N, Harrison FE.

Behav Brain Res. 2019 Jul 23;367:53-58. doi: 10.1016/j.bbr.2019.03.041. Epub 2019 Mar 25.

PMID:
30922937
17.

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Colson C, Decamp M, Gruchy N, Coudray N, Ballandonne C, Bracquemart C, Molin A, Mittre H, Takatani R, Jüppner H, Kottler ML, Richard N.

Bone. 2019 Jun;123:145-152. doi: 10.1016/j.bone.2019.03.023. Epub 2019 Mar 21.

18.

KBG syndrome presenting with brachydactyly type E.

Libianto R, Wu KH, Devery S, Eisman JA, Center JR.

Bone. 2019 Jun;123:18-22. doi: 10.1016/j.bone.2019.03.012. Epub 2019 Mar 12.

PMID:
30877071
19.

Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review.

Schneller-Pavelescu L, Vergara de Caso E, Pastor-Tomás N, Gutiérrez Agulló M, Ruiz Pérez L, Betlloch Mas I.

Pediatr Dermatol. 2019 May;36(3):355-359. doi: 10.1111/pde.13769. Epub 2019 Feb 27.

PMID:
30809832
20.

Three cases of transient neonatal pseudohypoparathyroidism.

Kutilek S, Vracovska M, Pecenkova K, Brozikova H, Rondzikova E, Boskova E, Pikner R, Fejfarkova Z.

Sudan J Paediatr. 2018;18(2):42-47. doi: 10.24911/SJP.106-1516889879.

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