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Items: 15

1.

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C.

N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717.

PMID:
21651393
2.

Phosphodiesterase-4D knock-out and RNA interference-mediated knock-down enhance memory and increase hippocampal neurogenesis via increased cAMP signaling.

Li YF, Cheng YF, Huang Y, Conti M, Wilson SP, O'Donnell JM, Zhang HT.

J Neurosci. 2011 Jan 5;31(1):172-83. doi: 10.1523/JNEUROSCI.5236-10.2011.

PMID:
21209202
3.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.

Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson B, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel L, Casanova JL.

J Exp Med. 2010 Oct 25;207(11):2307-12. doi: 10.1084/jem.20101597.

PMID:
20876309
4.

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA.

Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110.

PMID:
20644199
5.

The Sequence Alignment/Map format and SAMtools.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup..

Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: 10.1093/bioinformatics/btp352.

PMID:
19505943
6.

Fast and accurate short read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324.

PMID:
19451168
7.

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H.

Horm Res. 2005;63(2):65-74. Review.

PMID:
15711092
8.

Fractionation and characterization of a cyclic adenine ribonucleotide formed by tissue particles.

SUTHERLAND EW, RALL TW.

J Biol Chem. 1958 Jun;232(2):1077-91. No abstract available.

PMID:
13549488
9.

Formation of a cyclic adenine ribonucleotide by tissue particles.

RALL TW, SUTHERLAND EW.

J Biol Chem. 1958 Jun;232(2):1065-76. No abstract available.

PMID:
13549487
10.

Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism.

Graham JM Jr, Krakow D, Tolo VT, Smith AK, Lachman RS.

Pediatr Radiol. 2001 Jan;31(1):2-9.

PMID:
11200992
11.

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA.

Nat Genet. 2000 Sep;26(1):89-92.

PMID:
10973256
12.

Impaired growth and fertility of cAMP-specific phosphodiesterase PDE4D-deficient mice.

Jin SL, Richard FJ, Kuo WP, D'Ercole AJ, Conti M.

Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11998-2003.

PMID:
10518565
13.

Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL.

Am J Dis Child. 1971 Mar;121(3):195-203. No abstract available.

PMID:
5551869
14.

[Acrodysostosis].

Maroteaux P, Malamut G.

Presse Med. 1968 Nov 27;76(46):2189-92. French. No abstract available.

PMID:
5305130
15.

dunce, a mutant of Drosophila deficient in learning.

Dudai Y, Jan YN, Byers D, Quinn WG, Benzer S.

Proc Natl Acad Sci U S A. 1976 May;73(5):1684-8.

PMID:
818641
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