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  • Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, 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 C, 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.
  • Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI, Steinberg GK Jr. 2010. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Expanding the vascular phenotype. Am J Med Genet Part A 152: 960965.
  • Brancati F, Castori M, Mingarelli R, Dallapiccola B. 2005. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet Part A 139A: 212215.
  • Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. 2011. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 332: 240243.
  • Freeman JV, Cole TJ, Chinn S, Jones PR, White EM, Preece MA. 1995. Cross sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 73: 1724.
  • Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M. 2008. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40: 232236.
  • 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, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. 2004. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet Part A 130A: 5572.
  • Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK. 2011. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 60: 925935.
  • Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF. 2010. Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Acta Neuropathol 121: 545554.
  • Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT. 2011. The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet Part A 155A: 13981403.
  • Klingseisen A, Jackson AP. 2011. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev 25: 20112024.
  • Kuczmarski RJ, Ogden CL, Grummer-Strawn LM, Flegal KM, Guo SS, Wei R, Mei Z, Curtin LR, Roche AF, Johnson CL. 2000. CDC growth charts: United States. Adv Data 314: 127.
  • Munnik SD, Bicknell L, Aftimos S, Al-Aama J, Bever YV, Bober M, Clayton-Smith J, Edrees A, Feingold M, Fryer A, Hagen JV, Hennekam R, Jansweijer M, Johnson D, Kant S, Opitz J, Ramadevi A, Reardon W, Ross A, Sarda P, Schrander-Stumpel C, Schoots J, Temple IK, Terhal P, Toutain A, Wise C, Wright M, Skidmore D, Samuels M, Hoefsloot L, Knoers N, Brunner H, Jackson A, Bongers E. 2012. Meier–Gorlin syndrome: Genotype–phenotype studies in 35 individuals with mutations in the pre-replication complex and ten individuals with a clinical diagnosis of Meier–Gorlin Syndrome. Eur J Hum Gen 20: 598606.
  • Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman J. 2011. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. Epub ahead of print.
  • Rauch A. 2011. The shortest of the short: Pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab 25: 125130.
  • Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dorr HG, Reis A. 2008. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319: 816819.
  • Rollins JD, Collins JS, Holden KR. 2010. United States head circumference growth reference charts: Birth to 21 years. J Pediatr 156: 907913 e901–e902.
  • Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N. 1998. Microcephalic osteodysplastic primordial dwarfism Taybi–Linder type: Report of four cases and review of the literature. Am J Med Genet 80: 1624.
  • Waldron JS, Hetts SW, Armstrong-Wells J, Dowd CF, Fullerton HJ, Gupta N, Lawton MT. 2009. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: Surgical considerations. J Neurosurg Pediatr 4: 439444.
  • Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. 2009. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 47: 797802.