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Further delineation of the branchio-oculo-facial syndrome.
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Lin AE, et al. Among authors: meinecke p. Am J Med Genet. 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. Am J Med Genet. 1995. PMID: 7747785 Free article. Review.
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.
Cunniff C, Curry CJ, Carey JC, Graham JM Jr, Williams CA, Stengel-Rutkowski S, Lüttgen S, Meinecke P. Cunniff C, et al. Among authors: meinecke p. Am J Med Genet. 1993 Nov 15;47(7):1018-21. doi: 10.1002/ajmg.1320470716. Am J Med Genet. 1993. PMID: 8291515
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. So J, et al. Among authors: meinecke p. Am J Med Genet A. 2005 Jan 1;132A(1):1-7. doi: 10.1002/ajmg.a.30407. Am J Med Genet A. 2005. PMID: 15558842
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Morava E, et al. Among authors: meinecke p. Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. Epub 2007 Oct 31. Eur J Hum Genet. 2008. PMID: 17971833
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
Hurst JA, Meinecke P, Baraitser M. Hurst JA, et al. Among authors: meinecke p. J Med Genet. 1991 Jan;28(1):54-5. doi: 10.1136/jmg.28.1.54. J Med Genet. 1991. PMID: 1999835 Free PMC article.
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. Among authors: meinecke p. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: meinecke p. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Among authors: meinecke p. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.
138 results