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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE.

J Med Genet. 2007 Jul;44(7):472-7. Epub 2007 Mar 16.


Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE.

J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19.


Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE.

Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553.


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.

Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.


MED12 related disorders.

Graham JM Jr, Schwartz CE.

Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Review.


A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ.

Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.


Two male sibs with severe micrognathia and a missense variant in MED12.

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A.

Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7.


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

Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R.

Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x.


Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.


MED12 mutations in human diseases.

Wang H, Shen Q, Ye LH, Ye J.

Protein Cell. 2013 Sep;4(9):643-6. doi: 10.1007/s13238-013-3048-3. Review.


Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).

Graham JM Jr, Clark RD, Moeschler JB, Rogers RC.

Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. Review.


Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.

Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.


The FG syndrome from a pathological perspective.

Neri C, Moser K, Pysher TJ, Boettger DR, Neri G, Opitz JM.

Fetal Pediatr Pathol. 2011;30(2):71-6. doi: 10.3109/15513815.2011.520259.


MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.

Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.

Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22.


Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Van Buggenhout G, Fryns JP.

Orphanet J Rare Dis. 2006 Jul 10;1:26. Review.


Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.

Ding N, Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE, Pradhan S, Boyer TG.

Mol Cell. 2008 Aug 8;31(3):347-59. doi: 10.1016/j.molcel.2008.05.023.


FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE.

Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90.


Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Muñoz F.

Am J Med Genet A. 2006 Dec 15;140(24):2807-11. Review.


Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A.

Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8.


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.

Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17.


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