Passarge E - Search Results

1

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: passarge e. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478

2

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

Passarge E, Robinson PN, Graul-Neumann LM. Passarge E, et al. Eur J Hum Genet. 2016 Aug;24(9):1244-7. doi: 10.1038/ejhg.2016.6. Epub 2016 Feb 10. Eur J Hum Genet. 2016. PMID: 26860060 Free PMC article. Review.

3

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Meinecke P, Passarge E. Meinecke P, et al. Among authors: passarge e. J Med Genet. 1991 Nov;28(11):795-800. doi: 10.1136/jmg.28.11.795. J Med Genet. 1991. PMID: 1770539 Free PMC article.

4

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. Graul-Neumann LM, et al. Among authors: passarge e. Am J Med Genet A. 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690. Am J Med Genet A. 2010. PMID: 20979188

5

[Syndrome of symphalangism and stapes fixation: an autosomal dominant hereditary disease (author's transl)].

Meinecke P, Passarge E. Meinecke P, et al. Among authors: passarge e. Dtsch Med Wochenschr. 1978 Oct 20;103(42):1660, 1663-5. doi: 10.1055/s-0028-1129318. Dtsch Med Wochenschr. 1978. PMID: 699789 German.

6

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: passarge e. Am J Med Genet. 1993 Feb 15;45(4):511-8. doi: 10.1002/ajmg.1320450422. Am J Med Genet. 1993. PMID: 8465860

7

[Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease].

Meinecke P, Schaefer E, Passarge E. Meinecke P, et al. Among authors: passarge e. Klin Padiatr. 1983 Jan-Feb;195(1):64-70. doi: 10.1055/s-2008-1034044. Klin Padiatr. 1983. PMID: 6834743 German.

8

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: passarge e. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.

9

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E. Rabe P, et al. Among authors: passarge e. Am J Med Genet. 1991 Dec 1;41(3):350-4. doi: 10.1002/ajmg.1320410317. Am J Med Genet. 1991. PMID: 1724113

10

Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation.

Hauss-Albert H, Passarge E. Hauss-Albert H, et al. Among authors: passarge e. Am J Med Genet. 1988 Nov;31(3):701-3. doi: 10.1002/ajmg.1320310328. Am J Med Genet. 1988. PMID: 3228151 No abstract available.

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