Dutly F - Search Results

1

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. Among authors: dutly f. Am J Med Genet. 1998 May 26;77(4):302-5. Am J Med Genet. 1998. PMID: 9600740

2

Molecular studies of translocations and trisomy involving chromosome 13.

Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA. Robinson WP, et al. Among authors: dutly f. Am J Med Genet. 1996 Jan 11;61(2):158-63. doi: 10.1002/(SICI)1096-8628(19960111)61:2<158::AID-AJMG11>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8669444

3

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.

Dutly F, Schinzel A. Dutly F, et al. Hum Mol Genet. 1996 Dec;5(12):1893-8. doi: 10.1093/hmg/5.12.1893. Hum Mol Genet. 1996. PMID: 8968740

4

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

Schinzel A, Braegger CP, Brecevic L, Dutly F, Binkert F. Schinzel A, et al. Among authors: dutly f. J Med Genet. 1997 Aug;34(8):692-5. doi: 10.1136/jmg.34.8.692. J Med Genet. 1997. PMID: 9279767 Free PMC article.

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. Among authors: dutly f. Eur J Hum Genet. 1997 Sep-Oct;5(5):308-14. Eur J Hum Genet. 1997. PMID: 9412788

6

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. Among authors: dutly f. 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.

7

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Dutly F, et al. Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9779800

8

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. Eur J Hum Genet. 1998 Mar-Apr;6(2):140-4. doi: 10.1038/sj.ejhg.5200168. Eur J Hum Genet. 1998. PMID: 9781058

9

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: dutly f. 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.

10

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA. Baumer A, et al. Among authors: dutly f. Hum Mol Genet. 1998 May;7(5):887-94. doi: 10.1093/hmg/7.5.887. Hum Mol Genet. 1998. PMID: 9536094 Free article.

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