Meinecke P - Search Results

1

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE. Thompson MD, et al. Among authors: meinecke p. Am J Med Genet A. 2010 Jul;152A(7):1661-9. doi: 10.1002/ajmg.a.33438. Am J Med Genet A. 2010. PMID: 20578257

2

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Krawitz PM, et al. Among authors: meinecke p. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478

3

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

Gillessen-Kaesbach G, Meinecke P, Garrett C, Padberg BC, Rehder H, Passarge E. Gillessen-Kaesbach G, et al. Among authors: meinecke p. Am J Med Genet. 1993 Feb 15;45(4):511-8. doi: 10.1002/ajmg.1320450422. Am J Med Genet. 1993. PMID: 8465860

4

Wiedemann-Steiner syndrome: three further cases.

Koenig R, Meinecke P, Kuechler A, Schäfer D, Müller D. Koenig R, et al. Among authors: meinecke p. Am J Med Genet A. 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587. Am J Med Genet A. 2010. PMID: 20803650

5

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).

Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Among authors: meinecke p. J Med Genet. 2000 Oct;37(10):798-804. doi: 10.1136/jmg.37.10.798. J Med Genet. 2000. PMID: 11183188 Free PMC article. No abstract available.

6

Desbuquois syndrome: three further cases and review of the literature.

Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nöthen M, Albrecht B, Beemer FA, Zerres K. Gillessen-Kaesbach G, et al. Among authors: meinecke p. Clin Dysmorphol. 1995 Apr;4(2):136-44. Clin Dysmorphol. 1995. PMID: 7606320 Review.

7

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: meinecke p. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924

8

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Nagy R, et al. Among authors: meinecke p. Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28. Clin Genet. 2012. PMID: 21815888 Free PMC article.

9

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

Horn D, Schottmann G, Meinecke P. Horn D, et al. Among authors: meinecke p. Eur J Med Genet. 2010 Mar-Apr;53(2):85-8. doi: 10.1016/j.ejmg.2010.01.002. Epub 2010 Jan 18. Eur J Med Genet. 2010. PMID: 20080219

10

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S. Schwabe GC, et al. Among authors: meinecke p. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986040 Free PMC article.

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