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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 2
2003 1
2005 1
2007 3
2008 1
2009 3
2012 2
2013 2
2014 3
2015 1
2024 0

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17 results

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Page 1
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. Bohring A, et al. Among authors: spaich c. Am J Med Genet. 1999 Aug 27;85(5):438-46. doi: 10.1002/(sici)1096-8628(19990827)85:5<438::aid-ajmg2>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10405439 Review.
Further delineation of the SATB2 phenotype.
Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D. Döcker D, et al. Among authors: spaich c. Eur J Hum Genet. 2014 Aug;22(8):1034-9. doi: 10.1038/ejhg.2013.280. Epub 2013 Dec 4. Eur J Hum Genet. 2014. PMID: 24301056 Free PMC article.
Segmental maternal UPD(7q) in Silver-Russell syndrome.
Eggermann T, Schönherr N, Jäger S, Spaich C, Ranke MB, Wollmann HA, Binder G. Eggermann T, et al. Among authors: spaich c. Clin Genet. 2008 Nov;74(5):486-9. doi: 10.1111/j.1399-0004.2008.01057.x. Epub 2008 Aug 12. Clin Genet. 2008. PMID: 18700897 No abstract available.
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay.
Barbi G, Spaich Ch, Adolph S, Rossier E, Kehrer-Sawatzki H. Barbi G, et al. Among authors: spaich ch. Am J Med Genet A. 2005 Feb 1;132A(4):419-24. doi: 10.1002/ajmg.a.30491. Am J Med Genet A. 2005. PMID: 15633178 Review.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: spaich c. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T. Spengler S, et al. Among authors: spaich c. J Pediatr. 2012 Nov;161(5):933-42. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8. J Pediatr. 2012. PMID: 22683032
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Lemke JR, et al. Among authors: spaich c. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. Epilepsia. 2012. PMID: 22612257 Free article.
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Among authors: spaich c. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
17 results