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Year Number of Results
1988 1
2000 1
2001 1
2002 1
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2021 2
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Page 1
MED12 related disorders.
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.
This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which is located at Xq13. To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit …
This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which …
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.
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. ...
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG …
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.
MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. ...
MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several d …
The Helena syndromes.
Neri G. Neri G. Am J Med Genet A. 2006 Oct 1;140(19):2007-12. doi: 10.1002/ajmg.a.31415. Am J Med Genet A. 2006. PMID: 16906537 Review.
Particularly instructive were the approaches to the cardio-facio-cutaneous, the Perlman, and the FG syndrome. These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acq …
Particularly instructive were the approaches to the cardio-facio-cutaneous, the Perlman, and the FG syndrome. These three cond …
Emerging role of non-coding RNA in health and disease.
Bhatti GK, Khullar N, Sidhu IS, Navik US, Reddy AP, Reddy PH, Bhatti JS. Bhatti GK, et al. Metab Brain Dis. 2021 Aug;36(6):1119-1134. doi: 10.1007/s11011-021-00739-y. Epub 2021 Apr 21. Metab Brain Dis. 2021. PMID: 33881724 Free PMC article. Review.
.), neurodegenerative diseases (Spino-cerebral ataxia type 7, Spino-cerebral ataxia type 8, Spinal muscular atrophy, Opitz-Kaveggia syndrome, etc.) cancers (cervix, breast, lung cancer, etc.), and infectious diseases (viral) studied so far. ...
.), neurodegenerative diseases (Spino-cerebral ataxia type 7, Spino-cerebral ataxia type 8, Spinal muscular atrophy, Opitz-Kaveggi …
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].
Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. Dessay S, et al. Am J Med Genet. 2002 Sep 15;112(1):6-11. doi: 10.1002/ajmg.10546. Am J Med Genet. 2002. PMID: 12239712 Review.
FG syndrome (OMIM 305450) is an X-linked condition comprising mental retardation, congenital hypotonia, constipation or anal malformations, and a distinctive appearance with disproportionately large head, tall and broad forehead, cowlicks and telecanthus. ...We pres …
FG syndrome (OMIM 305450) is an X-linked condition comprising mental retardation, congenital hypotonia, constipation or anal m …
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
Graham JM Jr, Clark RD, Moeschler JB, Rogers RC. Graham JM Jr, et al. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981778 Free PMC article. Review.
[Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974. The previously described behavio …
[Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz- …
[FG syndrome].
Kato R. Kato R. Ryoikibetsu Shokogun Shirizu. 2001;(33):710-1. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462647 Review. Japanese. No abstract available.
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
FG syndrome update 1988: note of 5 new patients and bibliography.
Opitz JM, Richieri-da Costa A, Aase JM, Benke PJ. Opitz JM, et al. Am J Med Genet. 1988 May-Jun;30(1-2):309-28. doi: 10.1002/ajmg.1320300132. Am J Med Genet. 1988. PMID: 3052062 Review.
At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. ...New hemizygote manifestations seen in this review of 5 new patient …
At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenot …
12 results