Schinzel A - Search Results

1

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: schinzel a. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164

2

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB. Koolen DA, et al. Among authors: schinzel a. Eur J Hum Genet. 2008 Mar;16(3):395-400. doi: 10.1038/sj.ejhg.5201975. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159213

3

Telomeres: a diagnosis at the end of the chromosomes.

De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. De Vries BB, et al. Among authors: schinzel a. J Med Genet. 2003 Jun;40(6):385-98. doi: 10.1136/jmg.40.6.385. J Med Genet. 2003. PMID: 12807958 Free PMC article. Review.

4

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A. Feenstra I, et al. Among authors: schinzel a. Eur J Med Genet. 2006 Jul-Aug;49(4):279-91. doi: 10.1016/j.ejmg.2005.10.131. Epub 2005 Nov 7. Eur J Med Genet. 2006. PMID: 16829349

5

Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.

Gaspar H, Albermann K, Baumer A, Schinzel A. Gaspar H, et al. Among authors: schinzel a. Am J Med Genet A. 2008 Jun 1;146A(11):1453-7. doi: 10.1002/ajmg.a.32314. Am J Med Genet A. 2008. PMID: 18449925

6

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Vulto-van Silfhout AT, van Ravenswaaij CM, Hehir-Kwa JY, Verwiel ET, Dirks R, van Vooren S, Schinzel A, de Vries BB, de Leeuw N. Vulto-van Silfhout AT, et al. Among authors: schinzel a. Eur J Med Genet. 2013 Sep;56(9):471-4. doi: 10.1016/j.ejmg.2013.06.010. Epub 2013 Jul 12. Eur J Med Genet. 2013. PMID: 23851227

7

A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies.

Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F. Schinzel A, et al. Am J Med Genet. 1998 May 26;77(4):302-5. Am J Med Genet. 1998. PMID: 9600740

8

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

Baumer A, Riegel M, Schinzel A. Baumer A, et al. Among authors: schinzel a. J Med Genet. 2004 Jun;41(6):413-20. doi: 10.1136/jmg.2003.016352. J Med Genet. 2004. PMID: 15173225 Free PMC article.

9

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH. Schinzel A, et al. J Med Genet. 1997 Dec;34(12):1012-4. doi: 10.1136/jmg.34.12.1012. J Med Genet. 1997. PMID: 9429145 Free PMC article.

10

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Nazarenko S, Sazhenova E, Baumer A, Schinzel A. Nazarenko S, et al. Among authors: schinzel a. Eur J Hum Genet. 2004 May;12(5):411-4. doi: 10.1038/sj.ejhg.5201168. Eur J Hum Genet. 2004. PMID: 14997184

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