Dutly F - Search Results

1

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

2

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

3

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.

4

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

5

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

6

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

7

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q).

Bernasconi F, Karagüzel A, Celep F, Keser I, Lüleci G, Dutly F, Schinzel AA. Bernasconi F, et al. Among authors: dutly f. Am J Hum Genet. 1996 Nov;59(5):1114-8. Am J Hum Genet. 1996. PMID: 8900241 Free PMC article.

8

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.

9

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

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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