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Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, 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, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Among authors: opitz jm. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959
Meier-Gorlin syndrome: report of eight additional cases and review.
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV. Bongers EM, et al. Among authors: opitz jm. Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452. Am J Med Genet. 2001. PMID: 11477602 Review.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
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. Bicknell LS, et al. Among authors: opitz jm. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. Nat Genet. 2011. PMID: 21358632 Free PMC article.
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
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. de Munnik SA, et al. Among authors: opitz jm. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
Elements of morphology: standard terminology for the external genitalia.
Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. Hennekam RC, et al. Among authors: opitz jm. Am J Med Genet A. 2013 Jun;161A(6):1238-63. doi: 10.1002/ajmg.a.35934. Epub 2013 May 6. Am J Med Genet A. 2013. PMID: 23650202 Free PMC article.
Elements of morphology: general terms for congenital anomalies.
Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Hennekam RC, et al. Among authors: opitz jm. Am J Med Genet A. 2013 Nov;161A(11):2726-33. doi: 10.1002/ajmg.a.36249. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124000
The campomelic syndrome--comments.
Opitz JM, Feingold M, Bull MJ, Spranger JW. Opitz JM, et al. Birth Defects Orig Artic Ser. 1974;10(9):97-9. Birth Defects Orig Artic Ser. 1974. PMID: 4418257 No abstract available.
Bilateral radial deficiency with lower limb involvement.
Spranger S, Weber M, Tröger J, Tariverdian G, Opitz JM. Spranger S, et al. Among authors: opitz jm. Am J Med Genet. 1996 May 3;63(1):193-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<193::AID-AJMG34>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8723109
476 results