SEARCH

SEARCH BY CITATION

REFERENCES

  • Aicardi J. 1998. The etiology of developmental delay. Semin Pediatr Neurol 5: 1520.
  • Arena JF, Schwartz C, Ouzts L, Stevenson R, Miller M, Garza J, Nance M, Lubs H. 1996. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12. Am J Med Genet 64: 5058.
  • Baird PA, Sadovnick AD. 1985. Mental retardation in over half-a-million consecutive livebirths: An epidemiological study. Am J Ment Defic 89: 323330.
  • Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. 2003. X-linked spermine synthase gene (SMS) defect: The first polyamine deficiency syndrome. Eur J Hum Genet 11: 937944.
  • Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T. 2006. Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14: 701713.
  • Chiurazzi P, Schwartz CE, Gecz J, Neri G. 2008. XLMR genes: Update 2007. Eur J Hum Genet 16: 422434.
  • de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertie AL. 2008. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet 45: 539543.
  • De Hert M, Steemans D, Theys P, Fryns JP, Peuskens J. 1996. Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. Am J Med Genet 67: 212214.
  • Drillien CM. 1967. The incidence of mental and physical handicaps in school age children of very low birth weight. II. Pediatrics 39: 238247.
  • Froyen G, Bauters M, Voet T, Marynen P. 2006. X-linked mental retardation and epigenetics. J Cell Mol Med 10: 808825.
  • Fryns JP, Buttiens M. 1987. X-linked mental retardation with marfanoid habitus. Am J Med Genet 28: 267274.
  • Gurrieri F, Neri G. 1991. A girl with the Lujan-Fryns syndrome. Am J Med Genet 38: 290291.
  • Inlow JK, Restifo LL. 2004. Molecular and comparative genetics of mental retardation. Genetics 166: 835881.
  • Kleefstra T, Hamel BC. 2005. X-linked mental retardation: Further lumping, splitting and emerging phenotypes. Clin Genet 67: 451467.
  • Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lugo F, Zollino M, Gurrieri F, Neri G. 1991. X-linked mental retardation with marfanoid habitus: First report of four Italian patients. Am J Med Genet 38: 228232.
  • Larson SA, Lakin KC, Anderson L, Kwak N, Lee JH, Anderson D. 2001. Prevalence of mental retardation and developmental disabilities: Estimates from the 1994/1995 National Health Interview Survey Disability Supplements. Am J Ment Retard 106: 231252.
  • Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Munoz F. 2006. Psychopathology in the Lujan-Fryns syndrome: Report of two patients and review. Am J Med Genet Part A 140A: 28072811.
  • Leventer RJ, Mills PL, Dobyns WB. 2000. X-linked malformations of cortical development. Am J Med Genet 97: 213220.
  • Luckasson R, Borthwick-Duffy S, Buntinx WHE, Coulter DL, Craig EM, Reeve A, Schalock RL, Snell ME, Spitalnik DM, Spreat S, Tasse MJ. 2002. Mental retardation: Definition, classification, and systems of supports. 10th edition. Washington, DC: The American Association on Intellectual and. Developmental Disabilities. 238. p.
  • Lujan JE, Carlin ME, Lubs HA. 1984. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 17: 311322.
  • 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. 2009. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet 46: 913.
  • McLaren J, Bryson SE. 1987. Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology. Am J Ment Retard 92: 243254.
  • McLarren KM, Severson T, du Souich C, Stockton D, Larstone R, Limbos M, Friedlander R, Kratz LE, Cunningham D, An J, Nelson T, Chou A, Michaud J, Grzeschik KH, Hendson G, Waters P, Bard M, Lopez E, McGillivray B, Demos M, Van Allen MI, Livesley J, Herman G, Moore R, Kelley RI, Jones S, Marra M, Boerkoel CF. 2009. NSDHL mutation and cholesterol biosynthesis: A dosage sensitive model for human behavior and neurodevelopment. In preparation.
  • Norman MG, McGillivary BC, Kalousek DK, Hill A, Poskitt KJ, Becker LE, Cochrane DD, Muenke M. 1995. Congenital malformations of the brain. New York: Oxford University Press. pp. 8797.
  • Penrose LS. 1938. Great Britain, Medical Research Council, Special Report Series No. 229: A clinical and genetic study of 1280 cases of mental defect. London: HMSO.
  • Raymond FL. 2006. X linked mental retardation: A clinical guide. J Med Genet 43: 193200.
  • Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton D, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton M, Futreal PA. 2007. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet 80: 982987.
  • 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. 2007. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 39: 451453.
  • Rivera H, Ramirez-Duenas ML, Garcia-Ochoa C. 1992. Lujan syndrome in a Mexican boy. Am J Med Genet 43: 626627.
  • Roeleveld N, Zielhuis GA, Gabreels F. 1997. The prevalence of mental retardation: A critical review of recent literature. Dev Med Child Neurol 39: 125132.
  • Ropers HH, Hamel BC. 2005. X-linked mental retardation. Nat Rev Genet 6: 4657.
  • Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner S, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. 2007. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 44: 472477.
  • Sherr EH, Shevell MI. 2006. Mental retardation and global developmental delay. In: Swaiman KF, Ashwal S, Ferriero DM, editors. Pediatric neurology: Principles and practice. Philadelphia: Mosby. pp. 799820.
  • Snyder RD, Robinson A. 1969. Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediatr (Phila) 8: 669674.
  • Stathopulu E, Ogilvie CM, Flinter FA. 2003. Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. Am J Med Genet Part A 119A: 363366.
  • Stevenson RE, Schwartz CE, Schroer RJ. 2000. X-linked mental retardation. New York: Oxford University Press. 440 p.
  • Tarpey PS, Raymond FL, Nguyen LS, 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, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gecz J. 2007. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 39: 11271133.
  • Turner G, Gedeon A, Kerr B, Bennett R, Mulley J, Partington M. 2003. Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22. Am J Med Genet Part A 117A: 245250.
  • Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ. 2007. Filamin A mutation is one cause of FG syndrome. Am J Med Genet Part A 143A: 18761879.
  • Van Buggenhout G, Fryns JP. 2006. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 1: 26.
  • Walsh LE, Garg BP. 2006. Poisoning and drug-induced neurologic diseases. In: Swaiman KF, Ashwal S, Ferriero DM, editors. Pediatric neurology: Principles & practice 4th edition. Philadelphia: Mosby. pp. 21962199.
  • Williams MS. 2006. Neuropsychological evaluation in Lujan-Fryns syndrome: Commentary and clinical report. Am J Med Genet Part A 140A: 28122815.
  • Wittine LM, Josephson KD, Williams MS. 1999. Aortic root dilation in apparent Lujan-Fryns syndrome. Am J Med Genet 86: 405409.