References analysis of the Wikipedia article "Lujan–Fryns syndrome" in the English version

doi.org

Schwartz, C. E.; Tarpey, P. S.; Lubs, H. A.; Verloes, A.; May, M. M.; Risheg, H.; Friez, M. J.; Futreal, P. A.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensen, R. J.; Joseph, S. M.; Jones, J. R.; Gecz, J.; Stratton, M. R.; Raymond, F. L.; Stevenson, R. E. (July 2007). "The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene". Journal of Medical Genetics. 44 (7): 472–477. doi:10.1136/jmg.2006.048637. ISSN 0022-2593. PMC 2597996. PMID 17369503.

Fryns, J. P.; Buttiens, M.; Opitz, J. M.; Reynolds, J. F. (Oct 1987). "X-linked mental retardation with marfanoid habitus". American Journal of Medical Genetics. 28 (2): 267–274. doi:10.1002/ajmg.1320280202. ISSN 0148-7299. PMID 3322000.

Alonso, P.; Pintos, G.; Almazan, F.; Hernández, L.; Loran, E.; Menchon, J. M.; Vallejo, J. (July 2006). "Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome". Clinical Dysmorphology. 15 (3): 181–184. doi:10.1097/01.mcd.0000220610.24908.a4. ISSN 0962-8827. PMID 16760741. S2CID 7415391.

Lerma-Carrillo, I.; Molina, J. D.; Cuevas-Duran, T.; Julve-Correcher, C.; Espejo-Saavedra, J. M.; Andrade-Rosa, C.; Lopez-Muñoz, F. (December 2006). "Psychopathology in the Lujan-Fryns syndrome: report of two patients and review". American Journal of Medical Genetics Part A. 140 (24): 2807–2811. doi:10.1002/ajmg.a.31503. ISSN 1552-4825. PMID 17036352. S2CID 22491132.

Wittine, L. M.; Josephson, K. D.; Williams, M. S. (Oct 1999). "Aortic root dilation in apparent Lujan-Fryns syndrome". American Journal of Medical Genetics. 86 (5): 405–409. doi:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1. ISSN 0148-7299. PMID 10508979.

Buggenhout, G. V.; Fryns, J. -P. (July 2006). "Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)". Orphanet Journal of Rare Diseases (Free full text). 1: 26. doi:10.1186/1750-1172-1-26. PMC 1538574. PMID 16831221.

Jeret, J. S.; Serur, D.; Wisniewski, K. E.; Lubin, R. A. (1987). "Clinicopathological findings associated with agenesis of the corpus callosum". Brain & Development. 9 (3): 255–264. doi:10.1016/s0387-7604(87)80042-6. ISSN 0387-7604. PMID 3310713. S2CID 4761497.

Artigas-Pallarés, J.; Gabau-Vila, E.; Guitart-Feliubadaló, M. (Jan 2005). "Syndromic autism: II. Genetic syndromes associated with autism". Revista de Neurología. 40 (Suppl 1): S151–S162. doi:10.33588/rn.40S01.2005073. ISSN 0210-0010. PMID 15736079.

Lalatta, F.; Livini, E.; Selicorni, A.; Briscioli, V.; Vita, A.; Lugo, F.; Zollino, M.; Gurrieri, F.; Neri, G. (Feb 1991). "X-linked mental retardation with marfanoid habitus: first report of four Italian patients". American Journal of Medical Genetics. 38 (2–3): 228–232. doi:10.1002/ajmg.1320380211. ISSN 0148-7299. PMID 2018063.

De Hert, M.; Steemans, D.; Theys, P.; Fryns, J. P.; Peuskens, J. (Apr 1996). "Lujan-Fryns syndrome in the differential diagnosis of schizophrenia". American Journal of Medical Genetics. 67 (2): 212–213. doi:10.1002/(SICI)1096-8628(19960409)67:2<212::AID-AJMG13>3.0.CO;2-M. PMID 8723050.

Lujan, J. E.; Carlin, M. E.; Lubs, H. A.; Opitz, J. M. (Jan 1984). "A form of X-linked mental retardation with marfanoid habitus". American Journal of Medical Genetics. 17 (1): 311–322. doi:10.1002/ajmg.1320170124. ISSN 0148-7299. PMID 6711603.

Williams, M. S. (Dec 2006). "Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report". American Journal of Medical Genetics Part A. 140 (24): 2812–2815. doi:10.1002/ajmg.a.31501. ISSN 1552-4825. PMID 17103446. S2CID 29096814.

Donders, J.; Toriello, H.; Van Doornik, S. (Jan 2002). "Preserved neurobehavioral abilities in Lujan-Fryns syndrome". American Journal of Medical Genetics. 107 (3): 243–246. doi:10.1002/ajmg.10144. ISSN 0148-7299. PMID 11807907.

Prabhu, M.; Khouzam, R. N.; Insel, J. (Nov 2004). "Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report". Southern Medical Journal. 97 (11): 1130–1132. doi:10.1097/01.SMJ.0000140873.29381.12. ISSN 0038-4348. PMID 15586612. S2CID 27428744.

Buntinx, I. M.; Willems, P. J.; Spitaels, S. E.; Van Reempst, P. J.; De Paepe, A. M.; Dumon, J. E. (April 1991). "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal of Medical Genetics. 28 (4): 267–273. doi:10.1136/jmg.28.4.267. ISSN 0022-2593. PMC 1016831. PMID 1856834.

Willging, J. P. (Oct 1999). "Velopharyngeal insufficiency". International Journal of Pediatric Otorhinolaryngology. 49 (Suppl 1): S307–S309. doi:10.1016/S0165-5876(99)00182-2. ISSN 0165-5876. PMID 10577827.

Warren, D. W.; Dalston, R. M.; Mayo, R. (Jul 1994). "Hypernasality and velopharyngeal impairment". The Cleft Palate-Craniofacial Journal. 31 (4): 257–262. doi:10.1597/1545-1569(1994)031<0257:HAVI>2.3.CO;2. ISSN 1055-6656. PMID 7918520.

Stathopulu, E.; Ogilvie, C. M.; Flinter, F. A. (June 2003). "Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome". American Journal of Medical Genetics Part A. 119A (3): 363–366. doi:10.1002/ajmg.a.10268. ISSN 1552-4825. PMID 12784307. S2CID 45722356.

Gambarin, F.; Favalli, V.; Serio, A.; Regazzi, M.; Pasotti, M.; Klersy, C.; Dore, R.; Mannarino, S.; Viganò, M.; Odero, A.; Amato, S.; Tavazzi, L.; Arbustini, E. (April 2009). "Rationale and design of a trial evaluating the effects of losartan vs. Nebivolol vs. The association of both on the progression of aortic root dilation in Marfan syndrome with FBN1 gene mutations". Journal of Cardiovascular Medicine (Hagerstown, Md.). 10 (4): 354–362. doi:10.2459/JCM.0b013e3283232a45. ISSN 1558-2027. PMID 19430350. S2CID 29419873.

Biddick, R.; Young, E. (Sep 2005). "Yeast mediator and its role in transcriptional regulation". Comptes Rendus Biologies. 328 (9): 773–782. doi:10.1016/j.crvi.2005.03.004. ISSN 1631-0691. PMID 16168358.

Sims, R. J. 3rd; Mandal, S. S.; Reinberg, D. (June 2004). "Recent highlights of RNA-polymerase-II-mediated transcription". Current Opinion in Cell Biology. 16 (3): 263–271. doi:10.1016/j.ceb.2004.04.004. ISSN 0955-0674. PMID 15145350.{{cite journal}}: CS1 maint: numeric names: authors list (link)

Malik, S.; Roeder, R. G. (Jun 2000). "Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells". Trends in Biochemical Sciences. 25 (6): 277–283. doi:10.1016/S0968-0004(00)01596-6. ISSN 0968-0004. PMID 10838567.

Chakraborty C, H. C.; Hsu, C. H.; Wen, Z. H.; Lin, C. S.; Agoramoorthy, G. (Feb 2009). "Zebrafish: a complete animal model for in vivo drug discovery and development". Current Drug Metabolism. 10 (2): 116–124. doi:10.2174/138920009787522197. ISSN 1389-2002. PMID 19275547.

Kari, G.; Rodeck, U.; Dicker, A. P. (July 2007). "Zebrafish: an emerging model system for human disease and drug discovery". Clinical Pharmacology and Therapeutics. 82 (1): 70–80. doi:10.1038/sj.clpt.6100223. ISSN 0009-9236. PMID 17495877. S2CID 41443542.

McGonnell, I. M.; Fowkes, R. C. (June 2006). "Fishing for gene function--endocrine modelling in the zebrafish" (Free full text). The Journal of Endocrinology. 189 (3): 425–439. doi:10.1677/joe.1.06683. ISSN 0022-0795. PMID 16731775.

Wang, X.; Yang, N.; Uno, E.; Roeder, R. G.; Guo, S. (November 2006). "A subunit of the mediator complex regulates vertebrate neuronal development". Proceedings of the National Academy of Sciences of the United States of America (Free full text). 103 (46): 17284–17289. Bibcode:2006PNAS..10317284W. doi:10.1073/pnas.0605414103. ISSN 0027-8424. PMC 1859923. PMID 17088561.

Rau, M. J.; Fischer, S.; Neumann, C. J. (Aug 2006). "Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development". Developmental Biology. 296 (1): 83–93. doi:10.1016/j.ydbio.2006.04.437. ISSN 0012-1606. PMID 16712834.

Hong, S. -K.; Haldin, C. E.; Lawson, N. D.; Weinstein, B. M.; Dawid, I. B.; Hukriede, N. A. (December 2005). "The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney". Proceedings of the National Academy of Sciences of the United States of America. 102 (51): 18473–18478. Bibcode:2005PNAS..10218473H. doi:10.1073/pnas.0509457102. ISSN 0027-8424. PMC 1311743. PMID 16344459.

Gurrieri, F.; Neri, G. (Feb 1991). "A girl with the Lujan-Fryns syndrome". American Journal of Medical Genetics. 38 (2–3): 290–291. doi:10.1002/ajmg.1320380225. ISSN 0148-7299. PMID 2018074.

Fryns, J. P. (Feb 1991). "X-linked mental retardation with marfanoid habitus". American Journal of Medical Genetics. 38 (2–3): 233. doi:10.1002/ajmg.1320380212. ISSN 0148-7299. PMID 2018064.

Fang, J. S.; Lee, K. F.; Huang, C. T.; Syu, C. L.; Yang, K. J.; Wang, L. H.; Liao, D. L.; Chen, C. H. (Jun 2008). "Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion". Clinical Genetics. 73 (6): 585–590. doi:10.1111/j.1399-0004.2008.00995.x. ISSN 0009-9163. PMID 18400035. S2CID 6209765.

Chang, Y. F.; Imam, J. S.; Wilkinson, M. F. (2007). "The nonsense-mediated decay RNA surveillance pathway". Annual Review of Biochemistry. 76: 51–74. doi:10.1146/annurev.biochem.76.050106.093909. ISSN 0066-4154. PMID 17352659.

Tarpey, P. S.; Raymond, F. L.; Nguyen, L. S.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; Varian, J.; West, S.; Widaa, S.; Teague, J.; Dicks, E.; Butler, A.; Menzies, A.; Richardson, D.; Jenkinson, A.; Shepherd, R. (September 2007). "Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation". Nature Genetics (Free full text). 39 (9): 1127–1133. doi:10.1038/ng2100. ISSN 1061-4036. PMC 2872770. PMID 17704778.

Graham, J. M.; Superneau, D.; Rogers, R. C.; Corning, K.; Schwartz, C. E.; Dykens, E. M. (1999). "Clinical and behavioral characteristics in FG syndrome". American Journal of Medical Genetics. 85 (5): 470–475. doi:10.1002/(SICI)1096-8628(19990827)85:5<470::AID-AJMG7>3.0.CO;2-S. PMID 10405444.

Graham, J. M. Jr.; Visootsak, J.; Dykens, E.; Huddleston, L.; Clark, R. D.; Jones, K. L.; Moeschler, J. B..; Opitz, J. M..; Morford, J.; Simensen, R.; Rogers, R. C.; Schwartz, C. E.; Friez, M. J.; Stevenson, R. E. (December 2008). "Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene". American Journal of Medical Genetics Part A. 146A (23): 3011–3017. doi:10.1002/ajmg.a.32553. ISSN 1552-4825. PMC 3092600. PMID 18973276.

Risheg, H.; Graham, J. M.; Clark, R. D.; Rogers, R. C.; Opitz, J. M.; Moeschler, J. B.; Peiffer, A. P.; May, M.; Joseph, S. M.; Jones, J. R.; Stevenson, R. E.; Schwartz, C. E.; Friez, M. J. (April 2007). "A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome". Nature Genetics. 39 (4): 451–453. doi:10.1038/ng1992. ISSN 1061-4036. PMID 17334363. S2CID 26858160.

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Lacombe, D.; Bonneau, D.; Verloes, A.; Couet, D.; Koulischer, L.; Battin, J. (1993). "Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review". Genetic Counseling (Geneva, Switzerland). 4 (3): 193–198. ISSN 1015-8146. PMID 8267926.

Fryns, J. P.; Van Den Berghe, H. (1991). "X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?". Genetic Counseling (Geneva, Switzerland). 2 (4): 241–244. ISSN 1015-8146. PMID 1799424.

Fryns, J. P.; Buttiens, M.; Van Den Berghe, H. (Jan 1988). "Chromosome X-linked mental retardation and marfanoid syndrome". Journal de Génétique Humaine. 36 (1–2): 123–128. ISSN 0021-7743. PMID 3379374.

Mégarbané A, C. C.; Chammas, C. (1997). "Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge". Genetic Counseling (Geneva, Switzerland). 8 (3): 195–200. ISSN 1015-8146. PMID 9327261.

Gurrieri, F.; Neri, G. (Feb 1991). "A girl with the Lujan-Fryns syndrome". American Journal of Medical Genetics. 38 (2–3): 290–291. doi:10.1002/ajmg.1320380225. ISSN 0148-7299. PMID 2018074.

Fryns, J. P. (Feb 1991). "X-linked mental retardation with marfanoid habitus". American Journal of Medical Genetics. 38 (2–3): 233. doi:10.1002/ajmg.1320380212. ISSN 0148-7299. PMID 2018064.

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Gurrieri, F.; Neri, G. (Feb 1991). "A girl with the Lujan-Fryns syndrome". American Journal of Medical Genetics. 38 (2–3): 290–291. doi:10.1002/ajmg.1320380225. ISSN 0148-7299. PMID 2018074.

Fryns, J. P. (Feb 1991). "X-linked mental retardation with marfanoid habitus". American Journal of Medical Genetics. 38 (2–3): 233. doi:10.1002/ajmg.1320380212. ISSN 0148-7299. PMID 2018064.

Lujan–Fryns syndrome (English Wikipedia)

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