Schinzel A - Search Results

1

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A. Kariminejad A, et al. Among authors: schinzel a. Eur J Hum Genet. 2011 May;19(5):555-60. doi: 10.1038/ejhg.2010.252. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326286 Free PMC article.

2

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

3

Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.

Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A. Schlegel M, et al. Among authors: schinzel a. Prenat Diagn. 2002 May;22(5):418-21. doi: 10.1002/pd.337. Prenat Diagn. 2002. PMID: 12001199

4

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A. Wey E, et al. Among authors: schinzel a. Eur J Hum Genet. 2005 Mar;13(3):273-7. doi: 10.1038/sj.ejhg.5201337. Eur J Hum Genet. 2005. PMID: 15578038

5

Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.

Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B. Schinzel A, et al. Eur J Hum Genet. 1997 Sep-Oct;5(5):308-14. Eur J Hum Genet. 1997. PMID: 9412788

6

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.

Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Dutly F, et al. Among authors: schinzel a. Eur J Hum Genet. 1998 Mar-Apr;6(2):140-4. doi: 10.1038/sj.ejhg.5200168. Eur J Hum Genet. 1998. PMID: 9781058

7

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

Baumer A, Belli S, Trüeb RM, Schinzel A. Baumer A, et al. Among authors: schinzel a. Eur J Hum Genet. 2000 Jun;8(6):443-8. doi: 10.1038/sj.ejhg.5200506. Eur J Hum Genet. 2000. PMID: 10878665

8

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.

Balmer D, Baumer A, Röthlisberger B, Schinzel A. Balmer D, et al. Among authors: schinzel a. Prenat Diagn. 1999 Nov;19(11):1061-4. doi: 10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q. Prenat Diagn. 1999. PMID: 10589061

9

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.

Baumer A, Balmer D, Schinzel A. Baumer A, et al. Among authors: schinzel a. Hum Genet. 1999 Dec;105(6):598-602. doi: 10.1007/s004399900197. Hum Genet. 1999. PMID: 10647895 Free article.

10

No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases.

Riegel M, Baumer A, Schinzel A. Riegel M, et al. Among authors: schinzel a. Clin Genet. 2003 Sep;64(3):252-4. doi: 10.1034/j.1399-0004.2003.00135.x. Clin Genet. 2003. PMID: 12919141 No abstract available.

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