Schinzel A - Search Results

1

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A. Tzschach A, et al. Among authors: schinzel a. Am J Med Genet A. 2008 Jan 15;146A(2):197-203. doi: 10.1002/ajmg.a.32070. Am J Med Genet A. 2008. PMID: 18076117

2

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

3

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Kotzot D, et al. Among authors: schinzel a. J Med Genet. 2000 Apr;37(4):281-6. doi: 10.1136/jmg.37.4.281. J Med Genet. 2000. PMID: 10745046 Free PMC article.

4

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.

Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM. Blagitko N, et al. Among authors: schinzel aa. Hum Mol Genet. 1999 Dec;8(13):2387-96. doi: 10.1093/hmg/8.13.2387. Hum Mol Genet. 1999. PMID: 10556286

5

Trisomy 2p: analysis of unusual phenotypic findings.

Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, Hoeller A, Schinzel A. Lurie IW, et al. Among authors: schinzel a. Am J Med Genet. 1995 Jan 16;55(2):229-36. doi: 10.1002/ajmg.1320550216. Am J Med Genet. 1995. PMID: 7717424 Review.

6

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: schinzel a. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.

7

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

Wirth J, Back E, Hüttenhofer A, Nothwang HG, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K. Wirth J, et al. Among authors: schinzel a. Hum Mol Genet. 2001 Feb 1;10(3):201-10. doi: 10.1093/hmg/10.3.201. Hum Mol Genet. 2001. PMID: 11159938

8

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

Merienne K, Jacquot S, Trivier E, Pannetier S, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A. Merienne K, et al. Among authors: schinzel a. J Med Genet. 1998 Nov;35(11):890-4. doi: 10.1136/jmg.35.11.890. J Med Genet. 1998. PMID: 9832033 Free PMC article.

9

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.

10

Pre- and postnatal findings in trisomy 17 mosaicism.

Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: schinzel a. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327

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