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Items: 1 to 20 of 141

1.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T.

Am J Med Genet A. 2014 Oct;164A(10):2529-34. doi: 10.1002/ajmg.a.36669. Epub 2014 Jul 10.

PMID:
25044890
2.

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M.

J Clin Endocrinol Metab. 2012 Sep;97(9):E1808-13. doi: 10.1210/jc.2012-1369. Epub 2012 Jun 20.

PMID:
22723333
3.

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5.

PMID:
23043190
4.

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.

Hoppmann J, Gesing J, Silve C, Leroy C, Bertsche A, Hirsch FW, Kiess W, Pfäffle R, Schuster V.

J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):360-365. doi: 10.4274/jcrpe.4488. Epub 2017 May 17.

5.

[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].

Silve C.

Biol Aujourdhui. 2016;210(3):167-170. Epub 2016 Nov 4. Review. French.

PMID:
27813477
6.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.

PMID:
30006632
7.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.

8.

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP; FORGE Canada Consortium, Parboosingh JS, Innes AM.

Hum Mutat. 2013 Jan;34(1):97-102. doi: 10.1002/humu.22222. Epub 2012 Nov 9. Erratum in: Hum Mutat. 2013 Apr;34(4):667.

PMID:
23033274
9.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura K, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.

Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24.

PMID:
25064455
10.

Metaphyseal acroscyphodysplasia.

Verloes A, Le Merrer M, Farriaux JP, Maroteaux P.

Clin Genet. 1991 May;39(5):362-9.

PMID:
1860252
11.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A.

J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7.

PMID:
24203977
12.

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

Pereda A, Garin I; Spanish Network for Imprinting Disorders, Perez de Nanclares G.

BMC Med Genet. 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z.

13.

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.

Li N, Nie M, Li M, Jiang Y, Xing X, Wang O, Li C, Xia W.

Int J Mol Sci. 2014 Jul 29;15(8):13267-74. doi: 10.3390/ijms150813267.

14.

Acrodysostosis: A new form of pseudohypoparathyroidism?

Silve C.

Ann Endocrinol (Paris). 2015 May;76(2):110-2. doi: 10.1016/j.ando.2015.03.004. Epub 2015 Apr 15. Review. No abstract available.

PMID:
25890446
15.

Acrodysostosis.

Silve C, Clauser E, Linglart A.

Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Review.

PMID:
22815067
16.

Pseudohypoparathyroidism type Ib in 2015.

Mantovani G, Elli FM.

Ann Endocrinol (Paris). 2015 May;76(2):101-4. doi: 10.1016/j.ando.2015.03.028. Epub 2015 Apr 21. Review.

PMID:
25910998
17.

Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.

de Sanctis L, Vai S, Andreo MR, Romagnolo D, Silvestro L, de Sanctis C.

J Clin Endocrinol Metab. 2004 Apr;89(4):1650-5.

PMID:
15070926
18.

Madelung-like deformity in pseudohypoparathyroidism type 1b.

Sanchez J, Perera E, Jan de Beur S, Ding C, Dang A, Berkovitz GD, Levine MA.

J Clin Endocrinol Metab. 2011 Sep;96(9):E1507-11. doi: 10.1210/jc.2011-1411. Epub 2011 Jul 13.

19.

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH.

Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29.

20.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D.

Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21.

PMID:
23425300

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