SEARCH

SEARCH BY CITATION

REFERENCES

  • Bell SP, Stillman B. 1992. ATP-dependent recognition of eukaryotic origins of DNA replication by a multiprotein complex. Nature 357: 128134.
  • Bicknell LS, Bongers EMHF, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PAJ, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NVAM, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. 2011a. Mutations in the pre-replication complex cause Meier–Gorlin syndrome. Nat Genet 43: 356359.
  • Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise CA, Jackson AP, O'Driscoll M, Jeggo PA. 2011b. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier–Gorlin syndrome. Nat Genet 43: 350355.
  • Boles RG, Teebi AS, Schwartz D, Harper JF. 1994. Further delineation of the ear, patella, short stature syndrome (Meier–Gorlin syndrome). Clin Dysmorphol 3: 207214.
  • Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BCJ, Knoers NVAM. 2001. Meier–Gorlin syndrome: Report of eight additional cases and review. Am J Med Genet 102: 115124.
  • Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A. 1996. A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet 64: 447452.
  • Cohen B, Temple IK, Symons JC, Hall CM, Shaw DG, Bhamra M, Jackson AM, Pembrey ME. 1991. Microtia and short stature: A new syndrome. J Med Genet 28: 786790.
  • Cohen A, Mulas R, Seri M, Gaiero A, Fichera G, Marini M, Baffico M, Camera G. 2002. Meier–Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. Am J Med Genet 107: 4851.
  • de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. 2012. Meier–Gorlin syndrome genotype-phenotype studies: 35 Individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet 20: 598606.
  • Dudkiewicz M, Tanzer M. 2004. Total knee arthroplasty in Meier–Gorlin syndrome. J Arthroplasty 19: 931934.
  • Faqeih E, Sakati N, Teebi AS. 2005. Meier–Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings. Am J Med Genet Part A 137A: 339341.
  • Feingold M. 2002. Meier–Gorlin syndrome. Am J Med Genet 109: 338.
  • Fryns JP. 1998. Meier–Gorlin syndrome: The adult phenotype. Clin Dysmorphol 7: 231232.
  • Gezdirici A, Yosunkaya E, Paydas A, Seven M, Yuksel A. 2010. Expanding the phenotypical spectrum of Meier–Gorlin syndrome with novel findings: Multiple hypopigmented skin lesions and sacral dimple. Clin Genet 78: 29.
  • Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ Jr. 1975. Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser 11: 3950.
  • Greulich WW, Pyle SL. 1959. Radiographic atlas of skeletal development of the hand and wrist, 2nd edition. Stanford: Stanford University Press.
  • Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, Leblanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. 2011. Mutations in origin recognition complex gene ORC4 cause Meier–Gorlin syndrome. Nat Genet 43: 360364.
  • Hall JG, Allanson JE, Gripp KW. Slavotinek AM. 2007. Handbook of physical measurements, 2nd edition. New York: Oxford University Press.
  • Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. 1978. Standard growth curves for achondroplasia. J Pediatr 93: 435438.
  • Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. 2009. Elements of morphology: Standard terminology for the ear. Am J Med Genet Part A 149A: 4060.
  • Hurst JA, Winter RM, Baraitser M. 1988. Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. Am J Med Genet 29: 107115.
  • Klingseisen A, Jackson AP. 2011. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev 25: 20112024.
  • Lacombe D, Toutain A, Gorlin RJ, Oley CA, Battin J. 1994. Clinical identification of a human equivalent to the short ear (se) murine phenotype. Ann Genet 37: 184191.
  • Leyland AH, Goldstein H. 2001. Multilevel health modeling of statistics. Chichester: Wiley Europe. p 246.
  • Lindberg A, Ranke MB. 2007. Data analysis in KIGS. In: Ranke MB, Price DA, Reiter EO, editors. Growth hormone therapy in pediatrics—20 years of KIGS. Basel: Karger. pp 2328.
  • Loeys BL, Lemmerling MM, Van Mol CE, Leroy JG. 1999. The Meier–Gorlin syndrome, or ear-patella short stature syndrome, in sibs. Am J Med Genet 84: 6167.
  • Meier Z, Poschiavo ??, Rotschild M. 1959. Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome). Helv Paediatr Acta 14: 213216.
  • Niklasson A, Albertsson-Wikland K. 2008. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr 8: 8.
  • Nishitani H, Lygerou Z, Nishimoto T, Nurse P. 2000. The Cdt1 protein is required to license DNA for replication in fission yeast. Nature 404: 625628.
  • Park E, Bailey D, Cowell CA. 1983. Growth and maturation of patients with Turner's syndrome. Pediatr Res 17: 17.
  • Prader A, Largo RH, Molinari L, Issler C. 1989. Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl 52: 1125.
  • Rikken B, van Doorn J, Ringeling A, Van den Brande JL, Massa G, Wit JM. 1998. Plasma levels of insulin-like growth factor (IGF)-I, IGF-II and IGF-binding protein-3 in the evaluation of childhood growth hormone deficiency. Horm Res 50: 166176.
  • Shalev SA, Hall JG. 2003. Another adult with Meier–Gorlin syndrome—insights into the natural history. Clin Dysmorphol 12: 167169.
  • Terhal PA, Ausems MGEM, van Bever Y, ten Kate LP, Dijkstra PF, Kuijpers GMC. 2000. Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: Expansion of the phenotype? J Med Genet 37: 719721.
  • Verhallen JCTM, van der Lely N, Kant SG. 1999. Het syndroom van Meier–Gorlin. Tijdschr Kindergeneesk 67: 3235.