Binkert F - Search Results

1

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: binkert 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.

2

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H. Schinzel A, et al. Among authors: binkert f. J Med Genet. 1991 May;28(5):352-5. doi: 10.1136/jmg.28.5.352. J Med Genet. 1991. PMID: 1865477 Free PMC article. Review.

3

Intrachromosomal triplication of 15q11-q13.

Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. Schinzel AA, et al. Among authors: binkert f. J Med Genet. 1994 Oct;31(10):798-803. doi: 10.1136/jmg.31.10.798. J Med Genet. 1994. PMID: 7837257 Free PMC article.

4

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: binkert 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

5

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M, Robinson WP. Schinzel A, et al. Among authors: binkert f. J Med Genet. 1995 Dec;32(12):957-61. doi: 10.1136/jmg.32.12.957. J Med Genet. 1995. PMID: 8825924 Free PMC article.

6

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: binkert 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.

7

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

8

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

9

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

10

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A. Röthlisberger B, et al. Among authors: binkert f. Eur J Hum Genet. 1999 Dec;7(8):873-83. doi: 10.1038/sj.ejhg.5200389. Eur J Hum Genet. 1999. PMID: 10602362

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