Schinzel A - Search Results

1

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T. Vermeesch JR, et al. Among authors: schinzel a. Eur J Med Genet. 2005 Jul-Sep;48(3):319-27. doi: 10.1016/j.ejmg.2005.04.018. Eur J Med Genet. 2005. PMID: 16179227

2

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Riegel M, Schinzel A. Riegel M, et al. Among authors: schinzel a. Am J Med Genet. 2002 Jul 22;111(1):76-80. doi: 10.1002/ajmg.10534. Am J Med Genet. 2002. PMID: 12124740 Review.

3

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.

Rochat MK, Riegel M, Schinzel AA. Rochat MK, et al. Among authors: schinzel aa. Am J Med Genet A. 2007 Feb 15;143(4):399-408. doi: 10.1002/ajmg.a.31605. Am J Med Genet A. 2007. PMID: 17230490 Review.

4

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).

Czakó M, Riegel M, Morava E, Schinzel A, Kosztolányi G. Czakó M, et al. Among authors: schinzel a. Am J Med Genet. 2002 Mar 15;108(3):226-8. doi: 10.1002/ajmg.10243. Am J Med Genet. 2002. PMID: 11891691

5

An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal.

Riegel M, Baumer A, Süss J, Schinzel A. Riegel M, et al. Among authors: schinzel a. Am J Med Genet A. 2005 May 15;135(1):86-90. doi: 10.1002/ajmg.a.30683. Am J Med Genet A. 2005. PMID: 15809996

6

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A. Tyshchenko NA, et al. Among authors: schinzel a. Eur J Med Genet. 2007 Mar-Apr;50(2):128-32. doi: 10.1016/j.ejmg.2006.10.008. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17174617

7

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M. Bartholdi D, et al. Among authors: schinzel a. Eur J Med Genet. 2008 Mar-Apr;51(2):113-23. doi: 10.1016/j.ejmg.2007.12.005. Epub 2008 Jan 4. Eur J Med Genet. 2008. PMID: 18262484

8

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Riegel M, et al. Among authors: schinzel a. Am J Med Genet. 1999 Jan 29;82(3):249-53. doi: 10.1002/(sici)1096-8628(19990129)82:3<249::aid-ajmg10>3.0.co;2-8. Am J Med Genet. 1999. PMID: 10215549

9

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.

Riegel M, Morava E, Czakó M, Kosztolányi G, Schinzel A. Riegel M, et al. Among authors: schinzel a. Am J Med Genet. 2001 Aug 15;102(3):227-30. doi: 10.1002/ajmg.1455. Am J Med Genet. 2001. PMID: 11484198 Review.

10

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.

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