Sindrome di Lujan-Fryns (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindrome di Lujan-Fryns" in Italian language version.

refsWebsite

Global rank Italian rank

37nih.gov

4^th place

9^th place

34doi.org

2^nd place

7^th place

34worldcat.org

5^th place

26^th place

34unibo.it

4,963^rd place

325^th place

31oadoi.org

799^th place

22^nd place

5omim.org

4,380^th place

4,368^th place

2harvard.edu

18^th place

104^th place

1whonamedit.com

2,888^th place

1,950^th place

1endocrinology-journals.org

low place

1archive.org

6^th place

8^th place

1semanticscholar.org

11^th place

2,598^th place

archive.org

Y. F. Chang, J. S. Imam e M. F. Wilkinson, The nonsense-mediated decay RNA surveillance pathway, in Annual Review of Biochemistry, vol. 76, 2007, pp. 51-74, DOI:10.1146/annurev.biochem.76.050106.093909, ISSN 0066-4154 (WC · ACNP), PMID 17352659.

doi.org

dx.doi.org

J. P. Fryns, M. Buttiens e J. M. Opitz, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 28, n. 2, Oct 1987, pp. 267-274, DOI:10.1002/ajmg.1320280202, ISSN 0148-7299 (WC · ACNP), PMID 3322000.
P. Alonso, G. Pintos e F. Almazan, Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome, in Clinical Dysmorphology, vol. 15, n. 3, luglio 2006, pp. 181-184, DOI:10.1097/01.mcd.0000220610.24908.a4, ISSN 0962-8827 (WC · ACNP), PMID 16760741.
I. Lerma‐Carrillo, J. D. Molina e T. Cuevas-Duran, Psychopathology in the Lujan-Fryns syndrome: report of two patients and review, in American Journal of Medical Genetics Part A, vol. 140, n. 24, dicembre 2006, pp. 2807-2811, DOI:10.1002/ajmg.a.31503, ISSN 1552-4825 (WC · ACNP), PMID 17036352.
L. M. Wittine, K. D. Josephson e M. S. Williams, <405::AID-AJMG2>3.0.CO;2-1 Aortic root dilation in apparent Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 86, n. 5, Oct 1999, pp. 405-409, DOI:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1, ISSN 0148-7299 (WC · ACNP), PMID 10508979.
G. V. Buggenhout e J. -P. Fryns, Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) (Free full text), in Orphanet Journal of Rare Diseases, vol. 1, luglio 2006, p. 26, DOI:10.1186/1750-1172-1-26, PMID 16831221.
J. E. Lujan, M. E. Carlin e H. A. Lubs, A form of X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 17, n. 1, Jan 1984, pp. 311-322, DOI:10.1002/ajmg.1320170124, ISSN 0148-7299 (WC · ACNP), PMID 6711603.
F. Gurrieri e G. Neri, A girl with the Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 290-291, DOI:10.1002/ajmg.1320380225, ISSN 0148-7299 (WC · ACNP), PMID 2018074.
J. S. Jeret, D. Serur e K. E. Wisniewski, Clinicopathological findings associated with agenesis of the corpus callosum, in Brain & Development, vol. 9, n. 3, 1987, pp. 255-264, DOI:10.1016/s0387-7604(87)80042-6, ISSN 0387-7604 (WC · ACNP), PMID 3310713.
F. Lalatta, E. Livini e A. Selicorni, X-linked mental retardation with marfanoid habitus: first report of four Italian patients, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 228-232, DOI:10.1002/ajmg.1320380211, ISSN 0148-7299 (WC · ACNP), PMID 2018063.
M. De Hert, D. Steemans e P. Theys, <212::AID-AJMG13>3.0.CO;2-M Lujan-Fryns syndrome in the differential diagnosis of schizophrenia, in American Journal of Medical Genetics, vol. 67, n. 2, Apr 1996, pp. 212-213, DOI:10.1002/(SICI)1096-8628(19960409)67:2<212::AID-AJMG13>3.0.CO;2-M, PMID 8723050.
M. S. Williams, Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report, in American Journal of Medical Genetics Part A, vol. 140, n. 24, Dec 2006, pp. 2812-2815, DOI:10.1002/ajmg.a.31501, ISSN 1552-4825 (WC · ACNP), PMID 17103446.
J. Donders, H. Toriello e S. Van Doornik, Preserved neurobehavioral abilities in Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 107, n. 3, Jan 2002, pp. 243-246, DOI:10.1002/ajmg.10144, ISSN 0148-7299 (WC · ACNP), PMID 11807907.
M. Prabhu, R. N. Khouzam e J. Insel, Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report, in Southern Medical Journal, vol. 97, n. 11, Nov 2004, pp. 1130-1132, DOI:10.1097/01.SMJ.0000140873.29381.12, ISSN 0038-4348 (WC · ACNP), PMID 15586612.
I. M. Buntinx, P. J. Willems e S. E. Spitaels, Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency, in Journal of Medical Genetics, vol. 28, n. 4, aprile 1991, pp. 267-273, DOI:10.1136/jmg.28.4.267, ISSN 0022-2593 (WC · ACNP), PMID 1856834.
J. P. Willging, Velopharyngeal insufficiency, in International Journal of Pediatric Otorhinolaryngology, 49 Suppl 1, Oct 1999, pp. S307–S309, DOI:10.1016/S0165-5876(99)00182-2, ISSN 0165-5876 (WC · ACNP), PMID 10577827.
D. W. Warren, R. M. Dalston e R. Mayo, <0257:HAVI>2.3.CO;2 Hypernasality and velopharyngeal impairment, in The Cleft Palate-Craniofacial Journal, vol. 31, n. 4, Jul 1994, pp. 257-262, DOI:10.1597/1545-1569(1994)031<0257:HAVI>2.3.CO;2, ISSN 1055-6656 (WC · ACNP), PMID 7918520.
E. Stathopulu, C. M. Ogilvie e F. A. Flinter, Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome, in American Journal of Medical Genetics Part A, 119A, n. 3, giugno 2003, pp. 363-366, DOI:10.1002/ajmg.a.10268, ISSN 1552-4825 (WC · ACNP), PMID 12784307.
F. Gambarin, V. Favalli e A. Serio, 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, in Journal of Cardiovascular Medicine (Hagerstown, Md.), vol. 10, n. 4, aprile 2009, pp. 354-362, DOI:10.2459/JCM.0b013e3283232a45, ISSN 1558-2027 (WC · ACNP), PMID 19430350.
R. Biddick e E. Young, Yeast mediator and its role in transcriptional regulation, in Comptes Rendus Biologies, vol. 328, n. 9, Sep 2005, pp. 773-782, DOI:10.1016/j.crvi.2005.03.004, ISSN 1631-0691 (WC · ACNP), PMID 16168358.
R. J. 3rd Sims, S. S. Mandal e D. Reinberg, Recent highlights of RNA-polymerase-II-mediated transcription, in Current Opinion in Cell Biology, vol. 16, n. 3, giugno 2004, pp. 263-271, DOI:10.1016/j.ceb.2004.04.004, ISSN 0955-0674 (WC · ACNP), PMID 15145350.
S. Malik e R. G. Roeder, Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells, in Trends in Biochemical Sciences, vol. 25, n. 6, Jun 2000, pp. 277-283, DOI:10.1016/S0968-0004(00)01596-6, ISSN 0968-0004 (WC · ACNP), PMID 10838567.
H. C. Chakraborty C, C. H. Hsu e Z. H. Wen, Zebrafish: a complete animal model for in vivo drug discovery and development, in Current Drug Metabolism, vol. 10, n. 2, Feb 2009, pp. 116-124, DOI:10.2174/138920009787522197, ISSN 1389-2002 (WC · ACNP), PMID 19275547.
G. Kari, U. Rodeck e A. P. Dicker, Zebrafish: an emerging model system for human disease and drug discovery, in Clinical Pharmacology and Therapeutics, vol. 82, n. 1, luglio 2007, pp. 70-80, DOI:10.1038/sj.clpt.6100223, ISSN 0009-9236 (WC · ACNP), PMID 17495877.
I. M. McGonnell e R. C. Fowkes, Fishing for gene function--endocrine modelling in the zebrafish, in The Journal of Endocrinology, vol. 189, n. 3, giugno 2006, pp. 425-439, DOI:10.1677/joe.1.06683, ISSN 0022-0795 (WC · ACNP), PMID 16731775.
X. Wang, N. Yang e E. Uno, A subunit of the mediator complex regulates vertebrate neuronal development (Free full text), in Proceedings of the National Academy of Sciences of the United States of America, vol. 103, n. 46, novembre 2006, pp. 17284-17289, Bibcode:2006PNAS..10317284W, DOI:10.1073/pnas.0605414103, ISSN 0027-8424 (WC · ACNP), PMID 17088561.
M. J. Rau, S. Fischer e C. J. Neumann, Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development, in Developmental Biology, vol. 296, n. 1, Aug 2006, pp. 83-93, DOI:10.1016/j.ydbio.2006.04.437, ISSN 0012-1606 (WC · ACNP), PMID 16712834.
S. -K. Hong, C. E. Haldin e N. D. Lawson, The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, in Proceedings of the National Academy of Sciences of the United States of America, vol. 102, n. 51, dicembre 2005, pp. 18473-18478, Bibcode:2005PNAS..10218473H, DOI:10.1073/pnas.0509457102, ISSN 0027-8424 (WC · ACNP), PMID 16344459.
J. P. Fryns, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, p. 233, DOI:10.1002/ajmg.1320380212, ISSN 0148-7299 (WC · ACNP), PMID 2018064.
J. S. Fang, K. F. Lee e C. T. Huang, Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion, in Clinical Genetics, vol. 73, n. 6, Jun 2008, pp. 585-590, DOI:10.1111/j.1399-0004.2008.00995.x, ISSN 0009-9163 (WC · ACNP), PMID 18400035.
Y. F. Chang, J. S. Imam e M. F. Wilkinson, The nonsense-mediated decay RNA surveillance pathway, in Annual Review of Biochemistry, vol. 76, 2007, pp. 51-74, DOI:10.1146/annurev.biochem.76.050106.093909, ISSN 0066-4154 (WC · ACNP), PMID 17352659.
P. S. Tarpey, F. L. Raymond e L. S. Nguyen, Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (Free full text), in Nature Genetics, vol. 39, n. 9, settembre 2007, pp. 1127-1133, DOI:10.1038/ng2100, ISSN 1061-4036 (WC · ACNP), PMID 17704778.
J. M. Graham, D. Superneau e R. C. Rogers, <470::AID-AJMG7>3.0.CO;2-S Clinical and behavioral characteristics in FG syndrome, in American Journal of Medical Genetics, vol. 85, n. 5, 1999, pp. 470-475, DOI:10.1002/(SICI)1096-8628(19990827)85:5<470::AID-AJMG7>3.0.CO;2-S, PMID 10405444.
G. Jr, M. Visootsak e J. Dykens, Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene, in American Journal of Medical Genetics Part A, 146A, n. 23, dicembre 2008, pp. 3011-3017, DOI:10.1002/ajmg.a.32553, ISSN 1552-4825 (WC · ACNP), PMID 18973276.
H. Risheg, J. M. Graham Jr e R. D. Clark, A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome, in Nature Genetics, vol. 39, n. 4, aprile 2007, pp. 451-453, DOI:10.1038/ng1992, ISSN 1061-4036 (WC · ACNP), PMID 17334363.

endocrinology-journals.org

joe.endocrinology-journals.org

I. M. McGonnell e R. C. Fowkes, Fishing for gene function--endocrine modelling in the zebrafish, in The Journal of Endocrinology, vol. 189, n. 3, giugno 2006, pp. 425-439, DOI:10.1677/joe.1.06683, ISSN 0022-0795 (WC · ACNP), PMID 16731775.

harvard.edu

adsabs.harvard.edu

X. Wang, N. Yang e E. Uno, A subunit of the mediator complex regulates vertebrate neuronal development (Free full text), in Proceedings of the National Academy of Sciences of the United States of America, vol. 103, n. 46, novembre 2006, pp. 17284-17289, Bibcode:2006PNAS..10317284W, DOI:10.1073/pnas.0605414103, ISSN 0027-8424 (WC · ACNP), PMID 17088561.
S. -K. Hong, C. E. Haldin e N. D. Lawson, The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, in Proceedings of the National Academy of Sciences of the United States of America, vol. 102, n. 51, dicembre 2005, pp. 18473-18478, Bibcode:2005PNAS..10218473H, DOI:10.1073/pnas.0509457102, ISSN 0027-8424 (WC · ACNP), PMID 16344459.

nih.gov

ncbi.nlm.nih.gov

J. P. Fryns, M. Buttiens e J. M. Opitz, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 28, n. 2, Oct 1987, pp. 267-274, DOI:10.1002/ajmg.1320280202, ISSN 0148-7299 (WC · ACNP), PMID 3322000.
P. Alonso, G. Pintos e F. Almazan, Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome, in Clinical Dysmorphology, vol. 15, n. 3, luglio 2006, pp. 181-184, DOI:10.1097/01.mcd.0000220610.24908.a4, ISSN 0962-8827 (WC · ACNP), PMID 16760741.
I. Lerma‐Carrillo, J. D. Molina e T. Cuevas-Duran, Psychopathology in the Lujan-Fryns syndrome: report of two patients and review, in American Journal of Medical Genetics Part A, vol. 140, n. 24, dicembre 2006, pp. 2807-2811, DOI:10.1002/ajmg.a.31503, ISSN 1552-4825 (WC · ACNP), PMID 17036352.
L. M. Wittine, K. D. Josephson e M. S. Williams, <405::AID-AJMG2>3.0.CO;2-1 Aortic root dilation in apparent Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 86, n. 5, Oct 1999, pp. 405-409, DOI:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1, ISSN 0148-7299 (WC · ACNP), PMID 10508979.
G. V. Buggenhout e J. -P. Fryns, Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) (Free full text), in Orphanet Journal of Rare Diseases, vol. 1, luglio 2006, p. 26, DOI:10.1186/1750-1172-1-26, PMID 16831221.
J. E. Lujan, M. E. Carlin e H. A. Lubs, A form of X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 17, n. 1, Jan 1984, pp. 311-322, DOI:10.1002/ajmg.1320170124, ISSN 0148-7299 (WC · ACNP), PMID 6711603.
F. Gurrieri e G. Neri, A girl with the Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 290-291, DOI:10.1002/ajmg.1320380225, ISSN 0148-7299 (WC · ACNP), PMID 2018074.
J. P. Fryns, M. Buttiens e H. Van Den Berghe, Chromosome X-linked mental retardation and marfanoid syndrome, in Journal de Genetique Humaine, vol. 36, 1–2, Jan 1988, pp. 123-128, ISSN 0021-7743 (WC · ACNP), PMID 3379374.
C. C. Mégarbané A e C. Chammas, Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge, in Genetic Counseling (Geneva, Switzerland), vol. 8, n. 3, 1997, pp. 195-200, ISSN 1015-8146 (WC · ACNP), PMID 9327261.
J. S. Jeret, D. Serur e K. E. Wisniewski, Clinicopathological findings associated with agenesis of the corpus callosum, in Brain & Development, vol. 9, n. 3, 1987, pp. 255-264, DOI:10.1016/s0387-7604(87)80042-6, ISSN 0387-7604 (WC · ACNP), PMID 3310713.
J. Artigas-Pallarés, E. Gabau-Vila e M. Guitart-Feliubadaló, Syndromic autism: II. Genetic syndromes associated with autism, in Revista de Neurología, 40 Suppl 1, Jan 2005, pp. S151–S162, ISSN 0210-0010 (WC · ACNP), PMID 15736079.
F. Lalatta, E. Livini e A. Selicorni, X-linked mental retardation with marfanoid habitus: first report of four Italian patients, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 228-232, DOI:10.1002/ajmg.1320380211, ISSN 0148-7299 (WC · ACNP), PMID 2018063.
M. De Hert, D. Steemans e P. Theys, <212::AID-AJMG13>3.0.CO;2-M Lujan-Fryns syndrome in the differential diagnosis of schizophrenia, in American Journal of Medical Genetics, vol. 67, n. 2, Apr 1996, pp. 212-213, DOI:10.1002/(SICI)1096-8628(19960409)67:2<212::AID-AJMG13>3.0.CO;2-M, PMID 8723050.
M. S. Williams, Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report, in American Journal of Medical Genetics Part A, vol. 140, n. 24, Dec 2006, pp. 2812-2815, DOI:10.1002/ajmg.a.31501, ISSN 1552-4825 (WC · ACNP), PMID 17103446.
J. Donders, H. Toriello e S. Van Doornik, Preserved neurobehavioral abilities in Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 107, n. 3, Jan 2002, pp. 243-246, DOI:10.1002/ajmg.10144, ISSN 0148-7299 (WC · ACNP), PMID 11807907.
M. Prabhu, R. N. Khouzam e J. Insel, Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report, in Southern Medical Journal, vol. 97, n. 11, Nov 2004, pp. 1130-1132, DOI:10.1097/01.SMJ.0000140873.29381.12, ISSN 0038-4348 (WC · ACNP), PMID 15586612.
I. M. Buntinx, P. J. Willems e S. E. Spitaels, Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency, in Journal of Medical Genetics, vol. 28, n. 4, aprile 1991, pp. 267-273, DOI:10.1136/jmg.28.4.267, ISSN 0022-2593 (WC · ACNP), PMID 1856834.
J. P. Willging, Velopharyngeal insufficiency, in International Journal of Pediatric Otorhinolaryngology, 49 Suppl 1, Oct 1999, pp. S307–S309, DOI:10.1016/S0165-5876(99)00182-2, ISSN 0165-5876 (WC · ACNP), PMID 10577827.
D. W. Warren, R. M. Dalston e R. Mayo, <0257:HAVI>2.3.CO;2 Hypernasality and velopharyngeal impairment, in The Cleft Palate-Craniofacial Journal, vol. 31, n. 4, Jul 1994, pp. 257-262, DOI:10.1597/1545-1569(1994)031<0257:HAVI>2.3.CO;2, ISSN 1055-6656 (WC · ACNP), PMID 7918520.
E. Stathopulu, C. M. Ogilvie e F. A. Flinter, Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome, in American Journal of Medical Genetics Part A, 119A, n. 3, giugno 2003, pp. 363-366, DOI:10.1002/ajmg.a.10268, ISSN 1552-4825 (WC · ACNP), PMID 12784307.
F. Gambarin, V. Favalli e A. Serio, 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, in Journal of Cardiovascular Medicine (Hagerstown, Md.), vol. 10, n. 4, aprile 2009, pp. 354-362, DOI:10.2459/JCM.0b013e3283232a45, ISSN 1558-2027 (WC · ACNP), PMID 19430350.
R. Biddick e E. Young, Yeast mediator and its role in transcriptional regulation, in Comptes Rendus Biologies, vol. 328, n. 9, Sep 2005, pp. 773-782, DOI:10.1016/j.crvi.2005.03.004, ISSN 1631-0691 (WC · ACNP), PMID 16168358.
R. J. 3rd Sims, S. S. Mandal e D. Reinberg, Recent highlights of RNA-polymerase-II-mediated transcription, in Current Opinion in Cell Biology, vol. 16, n. 3, giugno 2004, pp. 263-271, DOI:10.1016/j.ceb.2004.04.004, ISSN 0955-0674 (WC · ACNP), PMID 15145350.
S. Malik e R. G. Roeder, Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells, in Trends in Biochemical Sciences, vol. 25, n. 6, Jun 2000, pp. 277-283, DOI:10.1016/S0968-0004(00)01596-6, ISSN 0968-0004 (WC · ACNP), PMID 10838567.
H. C. Chakraborty C, C. H. Hsu e Z. H. Wen, Zebrafish: a complete animal model for in vivo drug discovery and development, in Current Drug Metabolism, vol. 10, n. 2, Feb 2009, pp. 116-124, DOI:10.2174/138920009787522197, ISSN 1389-2002 (WC · ACNP), PMID 19275547.
G. Kari, U. Rodeck e A. P. Dicker, Zebrafish: an emerging model system for human disease and drug discovery, in Clinical Pharmacology and Therapeutics, vol. 82, n. 1, luglio 2007, pp. 70-80, DOI:10.1038/sj.clpt.6100223, ISSN 0009-9236 (WC · ACNP), PMID 17495877.
I. M. McGonnell e R. C. Fowkes, Fishing for gene function--endocrine modelling in the zebrafish, in The Journal of Endocrinology, vol. 189, n. 3, giugno 2006, pp. 425-439, DOI:10.1677/joe.1.06683, ISSN 0022-0795 (WC · ACNP), PMID 16731775.
X. Wang, N. Yang e E. Uno, A subunit of the mediator complex regulates vertebrate neuronal development (Free full text), in Proceedings of the National Academy of Sciences of the United States of America, vol. 103, n. 46, novembre 2006, pp. 17284-17289, Bibcode:2006PNAS..10317284W, DOI:10.1073/pnas.0605414103, ISSN 0027-8424 (WC · ACNP), PMID 17088561.
M. J. Rau, S. Fischer e C. J. Neumann, Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development, in Developmental Biology, vol. 296, n. 1, Aug 2006, pp. 83-93, DOI:10.1016/j.ydbio.2006.04.437, ISSN 0012-1606 (WC · ACNP), PMID 16712834.
S. -K. Hong, C. E. Haldin e N. D. Lawson, The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, in Proceedings of the National Academy of Sciences of the United States of America, vol. 102, n. 51, dicembre 2005, pp. 18473-18478, Bibcode:2005PNAS..10218473H, DOI:10.1073/pnas.0509457102, ISSN 0027-8424 (WC · ACNP), PMID 16344459.
J. P. Fryns, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, p. 233, DOI:10.1002/ajmg.1320380212, ISSN 0148-7299 (WC · ACNP), PMID 2018064.
J. S. Fang, K. F. Lee e C. T. Huang, Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion, in Clinical Genetics, vol. 73, n. 6, Jun 2008, pp. 585-590, DOI:10.1111/j.1399-0004.2008.00995.x, ISSN 0009-9163 (WC · ACNP), PMID 18400035.
Y. F. Chang, J. S. Imam e M. F. Wilkinson, The nonsense-mediated decay RNA surveillance pathway, in Annual Review of Biochemistry, vol. 76, 2007, pp. 51-74, DOI:10.1146/annurev.biochem.76.050106.093909, ISSN 0066-4154 (WC · ACNP), PMID 17352659.
P. S. Tarpey, F. L. Raymond e L. S. Nguyen, Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (Free full text), in Nature Genetics, vol. 39, n. 9, settembre 2007, pp. 1127-1133, DOI:10.1038/ng2100, ISSN 1061-4036 (WC · ACNP), PMID 17704778.
J. M. Graham, D. Superneau e R. C. Rogers, <470::AID-AJMG7>3.0.CO;2-S Clinical and behavioral characteristics in FG syndrome, in American Journal of Medical Genetics, vol. 85, n. 5, 1999, pp. 470-475, DOI:10.1002/(SICI)1096-8628(19990827)85:5<470::AID-AJMG7>3.0.CO;2-S, PMID 10405444.
G. Jr, M. Visootsak e J. Dykens, Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene, in American Journal of Medical Genetics Part A, 146A, n. 23, dicembre 2008, pp. 3011-3017, DOI:10.1002/ajmg.a.32553, ISSN 1552-4825 (WC · ACNP), PMID 18973276.
H. Risheg, J. M. Graham Jr e R. D. Clark, A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome, in Nature Genetics, vol. 39, n. 4, aprile 2007, pp. 451-453, DOI:10.1038/ng1992, ISSN 1061-4036 (WC · ACNP), PMID 17334363.

oadoi.org

J. P. Fryns, M. Buttiens e J. M. Opitz, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 28, n. 2, Oct 1987, pp. 267-274, DOI:10.1002/ajmg.1320280202, ISSN 0148-7299 (WC · ACNP), PMID 3322000.
P. Alonso, G. Pintos e F. Almazan, Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome, in Clinical Dysmorphology, vol. 15, n. 3, luglio 2006, pp. 181-184, DOI:10.1097/01.mcd.0000220610.24908.a4, ISSN 0962-8827 (WC · ACNP), PMID 16760741.
I. Lerma‐Carrillo, J. D. Molina e T. Cuevas-Duran, Psychopathology in the Lujan-Fryns syndrome: report of two patients and review, in American Journal of Medical Genetics Part A, vol. 140, n. 24, dicembre 2006, pp. 2807-2811, DOI:10.1002/ajmg.a.31503, ISSN 1552-4825 (WC · ACNP), PMID 17036352.
L. M. Wittine, K. D. Josephson e M. S. Williams, <405::AID-AJMG2>3.0.CO;2-1 Aortic root dilation in apparent Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 86, n. 5, Oct 1999, pp. 405-409, DOI:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1, ISSN 0148-7299 (WC · ACNP), PMID 10508979.
G. V. Buggenhout e J. -P. Fryns, Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) (Free full text), in Orphanet Journal of Rare Diseases, vol. 1, luglio 2006, p. 26, DOI:10.1186/1750-1172-1-26, PMID 16831221.
J. E. Lujan, M. E. Carlin e H. A. Lubs, A form of X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 17, n. 1, Jan 1984, pp. 311-322, DOI:10.1002/ajmg.1320170124, ISSN 0148-7299 (WC · ACNP), PMID 6711603.
F. Gurrieri e G. Neri, A girl with the Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 290-291, DOI:10.1002/ajmg.1320380225, ISSN 0148-7299 (WC · ACNP), PMID 2018074.
J. S. Jeret, D. Serur e K. E. Wisniewski, Clinicopathological findings associated with agenesis of the corpus callosum, in Brain & Development, vol. 9, n. 3, 1987, pp. 255-264, DOI:10.1016/s0387-7604(87)80042-6, ISSN 0387-7604 (WC · ACNP), PMID 3310713.
F. Lalatta, E. Livini e A. Selicorni, X-linked mental retardation with marfanoid habitus: first report of four Italian patients, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 228-232, DOI:10.1002/ajmg.1320380211, ISSN 0148-7299 (WC · ACNP), PMID 2018063.
M. De Hert, D. Steemans e P. Theys, <212::AID-AJMG13>3.0.CO;2-M Lujan-Fryns syndrome in the differential diagnosis of schizophrenia, in American Journal of Medical Genetics, vol. 67, n. 2, Apr 1996, pp. 212-213, DOI:10.1002/(SICI)1096-8628(19960409)67:2<212::AID-AJMG13>3.0.CO;2-M, PMID 8723050.
M. S. Williams, Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report, in American Journal of Medical Genetics Part A, vol. 140, n. 24, Dec 2006, pp. 2812-2815, DOI:10.1002/ajmg.a.31501, ISSN 1552-4825 (WC · ACNP), PMID 17103446.
J. Donders, H. Toriello e S. Van Doornik, Preserved neurobehavioral abilities in Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 107, n. 3, Jan 2002, pp. 243-246, DOI:10.1002/ajmg.10144, ISSN 0148-7299 (WC · ACNP), PMID 11807907.
M. Prabhu, R. N. Khouzam e J. Insel, Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report, in Southern Medical Journal, vol. 97, n. 11, Nov 2004, pp. 1130-1132, DOI:10.1097/01.SMJ.0000140873.29381.12, ISSN 0038-4348 (WC · ACNP), PMID 15586612.
I. M. Buntinx, P. J. Willems e S. E. Spitaels, Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency, in Journal of Medical Genetics, vol. 28, n. 4, aprile 1991, pp. 267-273, DOI:10.1136/jmg.28.4.267, ISSN 0022-2593 (WC · ACNP), PMID 1856834.
J. P. Willging, Velopharyngeal insufficiency, in International Journal of Pediatric Otorhinolaryngology, 49 Suppl 1, Oct 1999, pp. S307–S309, DOI:10.1016/S0165-5876(99)00182-2, ISSN 0165-5876 (WC · ACNP), PMID 10577827.
D. W. Warren, R. M. Dalston e R. Mayo, <0257:HAVI>2.3.CO;2 Hypernasality and velopharyngeal impairment, in The Cleft Palate-Craniofacial Journal, vol. 31, n. 4, Jul 1994, pp. 257-262, DOI:10.1597/1545-1569(1994)031<0257:HAVI>2.3.CO;2, ISSN 1055-6656 (WC · ACNP), PMID 7918520.
E. Stathopulu, C. M. Ogilvie e F. A. Flinter, Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome, in American Journal of Medical Genetics Part A, 119A, n. 3, giugno 2003, pp. 363-366, DOI:10.1002/ajmg.a.10268, ISSN 1552-4825 (WC · ACNP), PMID 12784307.
F. Gambarin, V. Favalli e A. Serio, 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, in Journal of Cardiovascular Medicine (Hagerstown, Md.), vol. 10, n. 4, aprile 2009, pp. 354-362, DOI:10.2459/JCM.0b013e3283232a45, ISSN 1558-2027 (WC · ACNP), PMID 19430350.
R. Biddick e E. Young, Yeast mediator and its role in transcriptional regulation, in Comptes Rendus Biologies, vol. 328, n. 9, Sep 2005, pp. 773-782, DOI:10.1016/j.crvi.2005.03.004, ISSN 1631-0691 (WC · ACNP), PMID 16168358.
R. J. 3rd Sims, S. S. Mandal e D. Reinberg, Recent highlights of RNA-polymerase-II-mediated transcription, in Current Opinion in Cell Biology, vol. 16, n. 3, giugno 2004, pp. 263-271, DOI:10.1016/j.ceb.2004.04.004, ISSN 0955-0674 (WC · ACNP), PMID 15145350.
S. Malik e R. G. Roeder, Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells, in Trends in Biochemical Sciences, vol. 25, n. 6, Jun 2000, pp. 277-283, DOI:10.1016/S0968-0004(00)01596-6, ISSN 0968-0004 (WC · ACNP), PMID 10838567.
H. C. Chakraborty C, C. H. Hsu e Z. H. Wen, Zebrafish: a complete animal model for in vivo drug discovery and development, in Current Drug Metabolism, vol. 10, n. 2, Feb 2009, pp. 116-124, DOI:10.2174/138920009787522197, ISSN 1389-2002 (WC · ACNP), PMID 19275547.
G. Kari, U. Rodeck e A. P. Dicker, Zebrafish: an emerging model system for human disease and drug discovery, in Clinical Pharmacology and Therapeutics, vol. 82, n. 1, luglio 2007, pp. 70-80, DOI:10.1038/sj.clpt.6100223, ISSN 0009-9236 (WC · ACNP), PMID 17495877.
X. Wang, N. Yang e E. Uno, A subunit of the mediator complex regulates vertebrate neuronal development (Free full text), in Proceedings of the National Academy of Sciences of the United States of America, vol. 103, n. 46, novembre 2006, pp. 17284-17289, Bibcode:2006PNAS..10317284W, DOI:10.1073/pnas.0605414103, ISSN 0027-8424 (WC · ACNP), PMID 17088561.
M. J. Rau, S. Fischer e C. J. Neumann, Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development, in Developmental Biology, vol. 296, n. 1, Aug 2006, pp. 83-93, DOI:10.1016/j.ydbio.2006.04.437, ISSN 0012-1606 (WC · ACNP), PMID 16712834.
S. -K. Hong, C. E. Haldin e N. D. Lawson, The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, in Proceedings of the National Academy of Sciences of the United States of America, vol. 102, n. 51, dicembre 2005, pp. 18473-18478, Bibcode:2005PNAS..10218473H, DOI:10.1073/pnas.0509457102, ISSN 0027-8424 (WC · ACNP), PMID 16344459.
J. P. Fryns, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, p. 233, DOI:10.1002/ajmg.1320380212, ISSN 0148-7299 (WC · ACNP), PMID 2018064.
J. S. Fang, K. F. Lee e C. T. Huang, Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion, in Clinical Genetics, vol. 73, n. 6, Jun 2008, pp. 585-590, DOI:10.1111/j.1399-0004.2008.00995.x, ISSN 0009-9163 (WC · ACNP), PMID 18400035.
P. S. Tarpey, F. L. Raymond e L. S. Nguyen, Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (Free full text), in Nature Genetics, vol. 39, n. 9, settembre 2007, pp. 1127-1133, DOI:10.1038/ng2100, ISSN 1061-4036 (WC · ACNP), PMID 17704778.
J. M. Graham, D. Superneau e R. C. Rogers, <470::AID-AJMG7>3.0.CO;2-S Clinical and behavioral characteristics in FG syndrome, in American Journal of Medical Genetics, vol. 85, n. 5, 1999, pp. 470-475, DOI:10.1002/(SICI)1096-8628(19990827)85:5<470::AID-AJMG7>3.0.CO;2-S, PMID 10405444.
G. Jr, M. Visootsak e J. Dykens, Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene, in American Journal of Medical Genetics Part A, 146A, n. 23, dicembre 2008, pp. 3011-3017, DOI:10.1002/ajmg.a.32553, ISSN 1552-4825 (WC · ACNP), PMID 18973276.

omim.org

semanticscholar.org

H. Risheg, J. M. Graham Jr e R. D. Clark, A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome, in Nature Genetics, vol. 39, n. 4, aprile 2007, pp. 451-453, DOI:10.1038/ng1992, ISSN 1061-4036 (WC · ACNP), PMID 17334363.

unibo.it

acnpsearch.unibo.it

J. P. Fryns, M. Buttiens e J. M. Opitz, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 28, n. 2, Oct 1987, pp. 267-274, DOI:10.1002/ajmg.1320280202, ISSN 0148-7299 (WC · ACNP), PMID 3322000.
P. Alonso, G. Pintos e F. Almazan, Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome, in Clinical Dysmorphology, vol. 15, n. 3, luglio 2006, pp. 181-184, DOI:10.1097/01.mcd.0000220610.24908.a4, ISSN 0962-8827 (WC · ACNP), PMID 16760741.
I. Lerma‐Carrillo, J. D. Molina e T. Cuevas-Duran, Psychopathology in the Lujan-Fryns syndrome: report of two patients and review, in American Journal of Medical Genetics Part A, vol. 140, n. 24, dicembre 2006, pp. 2807-2811, DOI:10.1002/ajmg.a.31503, ISSN 1552-4825 (WC · ACNP), PMID 17036352.
L. M. Wittine, K. D. Josephson e M. S. Williams, <405::AID-AJMG2>3.0.CO;2-1 Aortic root dilation in apparent Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 86, n. 5, Oct 1999, pp. 405-409, DOI:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1, ISSN 0148-7299 (WC · ACNP), PMID 10508979.
J. E. Lujan, M. E. Carlin e H. A. Lubs, A form of X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 17, n. 1, Jan 1984, pp. 311-322, DOI:10.1002/ajmg.1320170124, ISSN 0148-7299 (WC · ACNP), PMID 6711603.
F. Gurrieri e G. Neri, A girl with the Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 290-291, DOI:10.1002/ajmg.1320380225, ISSN 0148-7299 (WC · ACNP), PMID 2018074.
J. P. Fryns, M. Buttiens e H. Van Den Berghe, Chromosome X-linked mental retardation and marfanoid syndrome, in Journal de Genetique Humaine, vol. 36, 1–2, Jan 1988, pp. 123-128, ISSN 0021-7743 (WC · ACNP), PMID 3379374.
C. C. Mégarbané A e C. Chammas, Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge, in Genetic Counseling (Geneva, Switzerland), vol. 8, n. 3, 1997, pp. 195-200, ISSN 1015-8146 (WC · ACNP), PMID 9327261.
J. S. Jeret, D. Serur e K. E. Wisniewski, Clinicopathological findings associated with agenesis of the corpus callosum, in Brain & Development, vol. 9, n. 3, 1987, pp. 255-264, DOI:10.1016/s0387-7604(87)80042-6, ISSN 0387-7604 (WC · ACNP), PMID 3310713.
J. Artigas-Pallarés, E. Gabau-Vila e M. Guitart-Feliubadaló, Syndromic autism: II. Genetic syndromes associated with autism, in Revista de Neurología, 40 Suppl 1, Jan 2005, pp. S151–S162, ISSN 0210-0010 (WC · ACNP), PMID 15736079.
F. Lalatta, E. Livini e A. Selicorni, X-linked mental retardation with marfanoid habitus: first report of four Italian patients, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 228-232, DOI:10.1002/ajmg.1320380211, ISSN 0148-7299 (WC · ACNP), PMID 2018063.
M. S. Williams, Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report, in American Journal of Medical Genetics Part A, vol. 140, n. 24, Dec 2006, pp. 2812-2815, DOI:10.1002/ajmg.a.31501, ISSN 1552-4825 (WC · ACNP), PMID 17103446.
J. Donders, H. Toriello e S. Van Doornik, Preserved neurobehavioral abilities in Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 107, n. 3, Jan 2002, pp. 243-246, DOI:10.1002/ajmg.10144, ISSN 0148-7299 (WC · ACNP), PMID 11807907.
M. Prabhu, R. N. Khouzam e J. Insel, Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report, in Southern Medical Journal, vol. 97, n. 11, Nov 2004, pp. 1130-1132, DOI:10.1097/01.SMJ.0000140873.29381.12, ISSN 0038-4348 (WC · ACNP), PMID 15586612.
I. M. Buntinx, P. J. Willems e S. E. Spitaels, Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency, in Journal of Medical Genetics, vol. 28, n. 4, aprile 1991, pp. 267-273, DOI:10.1136/jmg.28.4.267, ISSN 0022-2593 (WC · ACNP), PMID 1856834.
J. P. Willging, Velopharyngeal insufficiency, in International Journal of Pediatric Otorhinolaryngology, 49 Suppl 1, Oct 1999, pp. S307–S309, DOI:10.1016/S0165-5876(99)00182-2, ISSN 0165-5876 (WC · ACNP), PMID 10577827.
D. W. Warren, R. M. Dalston e R. Mayo, <0257:HAVI>2.3.CO;2 Hypernasality and velopharyngeal impairment, in The Cleft Palate-Craniofacial Journal, vol. 31, n. 4, Jul 1994, pp. 257-262, DOI:10.1597/1545-1569(1994)031<0257:HAVI>2.3.CO;2, ISSN 1055-6656 (WC · ACNP), PMID 7918520.
E. Stathopulu, C. M. Ogilvie e F. A. Flinter, Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome, in American Journal of Medical Genetics Part A, 119A, n. 3, giugno 2003, pp. 363-366, DOI:10.1002/ajmg.a.10268, ISSN 1552-4825 (WC · ACNP), PMID 12784307.
F. Gambarin, V. Favalli e A. Serio, 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, in Journal of Cardiovascular Medicine (Hagerstown, Md.), vol. 10, n. 4, aprile 2009, pp. 354-362, DOI:10.2459/JCM.0b013e3283232a45, ISSN 1558-2027 (WC · ACNP), PMID 19430350.
R. Biddick e E. Young, Yeast mediator and its role in transcriptional regulation, in Comptes Rendus Biologies, vol. 328, n. 9, Sep 2005, pp. 773-782, DOI:10.1016/j.crvi.2005.03.004, ISSN 1631-0691 (WC · ACNP), PMID 16168358.
R. J. 3rd Sims, S. S. Mandal e D. Reinberg, Recent highlights of RNA-polymerase-II-mediated transcription, in Current Opinion in Cell Biology, vol. 16, n. 3, giugno 2004, pp. 263-271, DOI:10.1016/j.ceb.2004.04.004, ISSN 0955-0674 (WC · ACNP), PMID 15145350.
S. Malik e R. G. Roeder, Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells, in Trends in Biochemical Sciences, vol. 25, n. 6, Jun 2000, pp. 277-283, DOI:10.1016/S0968-0004(00)01596-6, ISSN 0968-0004 (WC · ACNP), PMID 10838567.
H. C. Chakraborty C, C. H. Hsu e Z. H. Wen, Zebrafish: a complete animal model for in vivo drug discovery and development, in Current Drug Metabolism, vol. 10, n. 2, Feb 2009, pp. 116-124, DOI:10.2174/138920009787522197, ISSN 1389-2002 (WC · ACNP), PMID 19275547.
G. Kari, U. Rodeck e A. P. Dicker, Zebrafish: an emerging model system for human disease and drug discovery, in Clinical Pharmacology and Therapeutics, vol. 82, n. 1, luglio 2007, pp. 70-80, DOI:10.1038/sj.clpt.6100223, ISSN 0009-9236 (WC · ACNP), PMID 17495877.
I. M. McGonnell e R. C. Fowkes, Fishing for gene function--endocrine modelling in the zebrafish, in The Journal of Endocrinology, vol. 189, n. 3, giugno 2006, pp. 425-439, DOI:10.1677/joe.1.06683, ISSN 0022-0795 (WC · ACNP), PMID 16731775.
X. Wang, N. Yang e E. Uno, A subunit of the mediator complex regulates vertebrate neuronal development (Free full text), in Proceedings of the National Academy of Sciences of the United States of America, vol. 103, n. 46, novembre 2006, pp. 17284-17289, Bibcode:2006PNAS..10317284W, DOI:10.1073/pnas.0605414103, ISSN 0027-8424 (WC · ACNP), PMID 17088561.
M. J. Rau, S. Fischer e C. J. Neumann, Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development, in Developmental Biology, vol. 296, n. 1, Aug 2006, pp. 83-93, DOI:10.1016/j.ydbio.2006.04.437, ISSN 0012-1606 (WC · ACNP), PMID 16712834.
S. -K. Hong, C. E. Haldin e N. D. Lawson, The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, in Proceedings of the National Academy of Sciences of the United States of America, vol. 102, n. 51, dicembre 2005, pp. 18473-18478, Bibcode:2005PNAS..10218473H, DOI:10.1073/pnas.0509457102, ISSN 0027-8424 (WC · ACNP), PMID 16344459.
J. P. Fryns, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, p. 233, DOI:10.1002/ajmg.1320380212, ISSN 0148-7299 (WC · ACNP), PMID 2018064.
J. S. Fang, K. F. Lee e C. T. Huang, Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion, in Clinical Genetics, vol. 73, n. 6, Jun 2008, pp. 585-590, DOI:10.1111/j.1399-0004.2008.00995.x, ISSN 0009-9163 (WC · ACNP), PMID 18400035.
Y. F. Chang, J. S. Imam e M. F. Wilkinson, The nonsense-mediated decay RNA surveillance pathway, in Annual Review of Biochemistry, vol. 76, 2007, pp. 51-74, DOI:10.1146/annurev.biochem.76.050106.093909, ISSN 0066-4154 (WC · ACNP), PMID 17352659.
P. S. Tarpey, F. L. Raymond e L. S. Nguyen, Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (Free full text), in Nature Genetics, vol. 39, n. 9, settembre 2007, pp. 1127-1133, DOI:10.1038/ng2100, ISSN 1061-4036 (WC · ACNP), PMID 17704778.
G. Jr, M. Visootsak e J. Dykens, Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene, in American Journal of Medical Genetics Part A, 146A, n. 23, dicembre 2008, pp. 3011-3017, DOI:10.1002/ajmg.a.32553, ISSN 1552-4825 (WC · ACNP), PMID 18973276.
H. Risheg, J. M. Graham Jr e R. D. Clark, A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome, in Nature Genetics, vol. 39, n. 4, aprile 2007, pp. 451-453, DOI:10.1038/ng1992, ISSN 1061-4036 (WC · ACNP), PMID 17334363.

whonamedit.com

(EN) Ole Daniel Enersen, Sindrome di Lujan-Fryns, in Who Named It?.

worldcat.org

J. P. Fryns, M. Buttiens e J. M. Opitz, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 28, n. 2, Oct 1987, pp. 267-274, DOI:10.1002/ajmg.1320280202, ISSN 0148-7299 (WC · ACNP), PMID 3322000.
P. Alonso, G. Pintos e F. Almazan, Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome, in Clinical Dysmorphology, vol. 15, n. 3, luglio 2006, pp. 181-184, DOI:10.1097/01.mcd.0000220610.24908.a4, ISSN 0962-8827 (WC · ACNP), PMID 16760741.
I. Lerma‐Carrillo, J. D. Molina e T. Cuevas-Duran, Psychopathology in the Lujan-Fryns syndrome: report of two patients and review, in American Journal of Medical Genetics Part A, vol. 140, n. 24, dicembre 2006, pp. 2807-2811, DOI:10.1002/ajmg.a.31503, ISSN 1552-4825 (WC · ACNP), PMID 17036352.
L. M. Wittine, K. D. Josephson e M. S. Williams, <405::AID-AJMG2>3.0.CO;2-1 Aortic root dilation in apparent Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 86, n. 5, Oct 1999, pp. 405-409, DOI:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1, ISSN 0148-7299 (WC · ACNP), PMID 10508979.
J. E. Lujan, M. E. Carlin e H. A. Lubs, A form of X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 17, n. 1, Jan 1984, pp. 311-322, DOI:10.1002/ajmg.1320170124, ISSN 0148-7299 (WC · ACNP), PMID 6711603.
F. Gurrieri e G. Neri, A girl with the Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 290-291, DOI:10.1002/ajmg.1320380225, ISSN 0148-7299 (WC · ACNP), PMID 2018074.
J. P. Fryns, M. Buttiens e H. Van Den Berghe, Chromosome X-linked mental retardation and marfanoid syndrome, in Journal de Genetique Humaine, vol. 36, 1–2, Jan 1988, pp. 123-128, ISSN 0021-7743 (WC · ACNP), PMID 3379374.
C. C. Mégarbané A e C. Chammas, Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge, in Genetic Counseling (Geneva, Switzerland), vol. 8, n. 3, 1997, pp. 195-200, ISSN 1015-8146 (WC · ACNP), PMID 9327261.
J. S. Jeret, D. Serur e K. E. Wisniewski, Clinicopathological findings associated with agenesis of the corpus callosum, in Brain & Development, vol. 9, n. 3, 1987, pp. 255-264, DOI:10.1016/s0387-7604(87)80042-6, ISSN 0387-7604 (WC · ACNP), PMID 3310713.
J. Artigas-Pallarés, E. Gabau-Vila e M. Guitart-Feliubadaló, Syndromic autism: II. Genetic syndromes associated with autism, in Revista de Neurología, 40 Suppl 1, Jan 2005, pp. S151–S162, ISSN 0210-0010 (WC · ACNP), PMID 15736079.
F. Lalatta, E. Livini e A. Selicorni, X-linked mental retardation with marfanoid habitus: first report of four Italian patients, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, pp. 228-232, DOI:10.1002/ajmg.1320380211, ISSN 0148-7299 (WC · ACNP), PMID 2018063.
M. S. Williams, Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report, in American Journal of Medical Genetics Part A, vol. 140, n. 24, Dec 2006, pp. 2812-2815, DOI:10.1002/ajmg.a.31501, ISSN 1552-4825 (WC · ACNP), PMID 17103446.
J. Donders, H. Toriello e S. Van Doornik, Preserved neurobehavioral abilities in Lujan-Fryns syndrome, in American Journal of Medical Genetics, vol. 107, n. 3, Jan 2002, pp. 243-246, DOI:10.1002/ajmg.10144, ISSN 0148-7299 (WC · ACNP), PMID 11807907.
M. Prabhu, R. N. Khouzam e J. Insel, Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report, in Southern Medical Journal, vol. 97, n. 11, Nov 2004, pp. 1130-1132, DOI:10.1097/01.SMJ.0000140873.29381.12, ISSN 0038-4348 (WC · ACNP), PMID 15586612.
I. M. Buntinx, P. J. Willems e S. E. Spitaels, Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency, in Journal of Medical Genetics, vol. 28, n. 4, aprile 1991, pp. 267-273, DOI:10.1136/jmg.28.4.267, ISSN 0022-2593 (WC · ACNP), PMID 1856834.
J. P. Willging, Velopharyngeal insufficiency, in International Journal of Pediatric Otorhinolaryngology, 49 Suppl 1, Oct 1999, pp. S307–S309, DOI:10.1016/S0165-5876(99)00182-2, ISSN 0165-5876 (WC · ACNP), PMID 10577827.
D. W. Warren, R. M. Dalston e R. Mayo, <0257:HAVI>2.3.CO;2 Hypernasality and velopharyngeal impairment, in The Cleft Palate-Craniofacial Journal, vol. 31, n. 4, Jul 1994, pp. 257-262, DOI:10.1597/1545-1569(1994)031<0257:HAVI>2.3.CO;2, ISSN 1055-6656 (WC · ACNP), PMID 7918520.
E. Stathopulu, C. M. Ogilvie e F. A. Flinter, Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome, in American Journal of Medical Genetics Part A, 119A, n. 3, giugno 2003, pp. 363-366, DOI:10.1002/ajmg.a.10268, ISSN 1552-4825 (WC · ACNP), PMID 12784307.
F. Gambarin, V. Favalli e A. Serio, 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, in Journal of Cardiovascular Medicine (Hagerstown, Md.), vol. 10, n. 4, aprile 2009, pp. 354-362, DOI:10.2459/JCM.0b013e3283232a45, ISSN 1558-2027 (WC · ACNP), PMID 19430350.
R. Biddick e E. Young, Yeast mediator and its role in transcriptional regulation, in Comptes Rendus Biologies, vol. 328, n. 9, Sep 2005, pp. 773-782, DOI:10.1016/j.crvi.2005.03.004, ISSN 1631-0691 (WC · ACNP), PMID 16168358.
R. J. 3rd Sims, S. S. Mandal e D. Reinberg, Recent highlights of RNA-polymerase-II-mediated transcription, in Current Opinion in Cell Biology, vol. 16, n. 3, giugno 2004, pp. 263-271, DOI:10.1016/j.ceb.2004.04.004, ISSN 0955-0674 (WC · ACNP), PMID 15145350.
S. Malik e R. G. Roeder, Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells, in Trends in Biochemical Sciences, vol. 25, n. 6, Jun 2000, pp. 277-283, DOI:10.1016/S0968-0004(00)01596-6, ISSN 0968-0004 (WC · ACNP), PMID 10838567.
H. C. Chakraborty C, C. H. Hsu e Z. H. Wen, Zebrafish: a complete animal model for in vivo drug discovery and development, in Current Drug Metabolism, vol. 10, n. 2, Feb 2009, pp. 116-124, DOI:10.2174/138920009787522197, ISSN 1389-2002 (WC · ACNP), PMID 19275547.
G. Kari, U. Rodeck e A. P. Dicker, Zebrafish: an emerging model system for human disease and drug discovery, in Clinical Pharmacology and Therapeutics, vol. 82, n. 1, luglio 2007, pp. 70-80, DOI:10.1038/sj.clpt.6100223, ISSN 0009-9236 (WC · ACNP), PMID 17495877.
I. M. McGonnell e R. C. Fowkes, Fishing for gene function--endocrine modelling in the zebrafish, in The Journal of Endocrinology, vol. 189, n. 3, giugno 2006, pp. 425-439, DOI:10.1677/joe.1.06683, ISSN 0022-0795 (WC · ACNP), PMID 16731775.
X. Wang, N. Yang e E. Uno, A subunit of the mediator complex regulates vertebrate neuronal development (Free full text), in Proceedings of the National Academy of Sciences of the United States of America, vol. 103, n. 46, novembre 2006, pp. 17284-17289, Bibcode:2006PNAS..10317284W, DOI:10.1073/pnas.0605414103, ISSN 0027-8424 (WC · ACNP), PMID 17088561.
M. J. Rau, S. Fischer e C. J. Neumann, Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development, in Developmental Biology, vol. 296, n. 1, Aug 2006, pp. 83-93, DOI:10.1016/j.ydbio.2006.04.437, ISSN 0012-1606 (WC · ACNP), PMID 16712834.
S. -K. Hong, C. E. Haldin e N. D. Lawson, The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, in Proceedings of the National Academy of Sciences of the United States of America, vol. 102, n. 51, dicembre 2005, pp. 18473-18478, Bibcode:2005PNAS..10218473H, DOI:10.1073/pnas.0509457102, ISSN 0027-8424 (WC · ACNP), PMID 16344459.
J. P. Fryns, X-linked mental retardation with marfanoid habitus, in American Journal of Medical Genetics, vol. 38, 2–3, Feb 1991, p. 233, DOI:10.1002/ajmg.1320380212, ISSN 0148-7299 (WC · ACNP), PMID 2018064.
J. S. Fang, K. F. Lee e C. T. Huang, Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion, in Clinical Genetics, vol. 73, n. 6, Jun 2008, pp. 585-590, DOI:10.1111/j.1399-0004.2008.00995.x, ISSN 0009-9163 (WC · ACNP), PMID 18400035.
Y. F. Chang, J. S. Imam e M. F. Wilkinson, The nonsense-mediated decay RNA surveillance pathway, in Annual Review of Biochemistry, vol. 76, 2007, pp. 51-74, DOI:10.1146/annurev.biochem.76.050106.093909, ISSN 0066-4154 (WC · ACNP), PMID 17352659.
P. S. Tarpey, F. L. Raymond e L. S. Nguyen, Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (Free full text), in Nature Genetics, vol. 39, n. 9, settembre 2007, pp. 1127-1133, DOI:10.1038/ng2100, ISSN 1061-4036 (WC · ACNP), PMID 17704778.
G. Jr, M. Visootsak e J. Dykens, Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene, in American Journal of Medical Genetics Part A, 146A, n. 23, dicembre 2008, pp. 3011-3017, DOI:10.1002/ajmg.a.32553, ISSN 1552-4825 (WC · ACNP), PMID 18973276.
H. Risheg, J. M. Graham Jr e R. D. Clark, A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome, in Nature Genetics, vol. 39, n. 4, aprile 2007, pp. 451-453, DOI:10.1038/ng1992, ISSN 1061-4036 (WC · ACNP), PMID 17334363.