Similar articles for PMID: 24123922

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1

Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.

2

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

Rubinato E, Rondeau S, Giuliano F, Kossorotoff M, Parodi M, Gherbi S, Steffan J, Jonard L, Marlin S. Rubinato E, et al. Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536828 Review.

3

A novel variant in MED12 gene: Further delineation of phenotype.

Narayanan DL, Phadke SR. Narayanan DL, et al. Am J Med Genet A. 2017 Aug;173(8):2257-2260. doi: 10.1002/ajmg.a.38295. Epub 2017 May 23. Am J Med Genet A. 2017. PMID: 28544239

4

MED12 mutations in human diseases.

Wang H, Shen Q, Ye LH, Ye J. Wang H, et al. Protein Cell. 2013 Sep;4(9):643-6. doi: 10.1007/s13238-013-3048-3. Protein Cell. 2013. PMID: 23836153 Free PMC article. Review.

5

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J. Lesca G, et al. Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039113

6

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Plassche SV, Brouwer AP. Plassche SV, et al. Genes (Basel). 2021 Apr 28;12(5):663. doi: 10.3390/genes12050663. Genes (Basel). 2021. PMID: 33925166 Free PMC article. Review.

7

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T. Srivastava S, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30729724 Free PMC article.

8

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. Rump P, et al. Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x. Clin Genet. 2011. PMID: 20507344

9

The FG syndrome from a pathological perspective.

Neri C, Moser K, Pysher TJ, Boettger DR, Neri G, Opitz JM. Neri C, et al. Fetal Pediatr Pathol. 2011;30(2):71-6. doi: 10.3109/15513815.2011.520259. Fetal Pediatr Pathol. 2011. PMID: 21391746

10

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025

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