Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 14

1.

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.

2.

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
3.

[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
4.

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
5.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

6.

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.

Platzer K, Hüning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.

Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5. Review.

PMID:
24798461
8.

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A.

Am J Med Genet A. 2015 Nov;167A(11):2548-54. doi: 10.1002/ajmg.a.37221. Epub 2015 Jun 25. Review.

PMID:
26111154
9.

Acrodysostosis and spinal canal involvement.

Lahoud GA, Chalouhi N, Jabbour P.

World Neurosurg. 2014 Sep-Oct;82(3-4):537.e9-11. doi: 10.1016/j.wneu.2013.03.071. Epub 2013 Mar 30. Review.

PMID:
23548849
10.

New insights into the generation and role of de novo mutations in health and disease.

Acuna-Hidalgo R, Veltman JA, Hoischen A.

Genome Biol. 2016 Nov 28;17(1):241. Review.

11.

Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex.

Kirschner LS.

J Intern Med. 2009 Jul;266(1):60-8. doi: 10.1111/j.1365-2796.2009.02114.x. Review.

12.

[Genetic diagnostics in intellectual disability: what is the benefit?].

Willemsen MH, Kleefstra T.

Ned Tijdschr Geneeskd. 2014;158:A8098. Review. Dutch.

PMID:
25406822
13.

Acrodysostosis syndromes.

Silve C, Le-Stunff C, Motte E, Gunes Y, Linglart A, Clauser E.

Bonekey Rep. 2012 Nov 21;1:225. doi: 10.1038/bonekey.2012.225. Review.

14.

Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

Mantovani G, Spada A, Elli FM.

Nat Rev Endocrinol. 2016 Jun;12(6):347-56. doi: 10.1038/nrendo.2016.52. Epub 2016 Apr 22. Review.

PMID:
27109785

Supplemental Content

Support Center