Bernasconi F - Search Results

1

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A. Kotzot D, et al. Among authors: bernasconi f. Eur J Pediatr. 1995 Jun;154(6):477-82. doi: 10.1007/BF02029360. Eur J Pediatr. 1995. PMID: 7545578

2

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, et al. Kotzot D, et al. Among authors: bernasconi f. Hum Mol Genet. 1995 Apr;4(4):583-7. doi: 10.1093/hmg/4.4.583. Hum Mol Genet. 1995. PMID: 7633407 Free article.

3

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A. Robinson WP, et al. Among authors: bernasconi f. Genomics. 1996 May 15;34(1):17-23. doi: 10.1006/geno.1996.0237. Genomics. 1996. PMID: 8661020

4

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: bernasconi 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.

5

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. Robinson WP, et al. Among authors: bernasconi f. Am J Hum Genet. 1995 Feb;56(2):444-51. Am J Hum Genet. 1995. PMID: 7847381 Free PMC article.

6

Maternal uniparental disomy 22 has no impact on the phenotype.

Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP. Schinzel AA, et al. Among authors: bernasconi f. Am J Hum Genet. 1994 Jan;54(1):21-4. Am J Hum Genet. 1994. PMID: 8279466 Free PMC article.

7

Nondisjunction of chromosome 15: origin and recombination.

Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA. Robinson WP, et al. Among authors: bernasconi f. Am J Hum Genet. 1993 Sep;53(3):740-51. Am J Hum Genet. 1993. PMID: 8352279 Free PMC article.

8

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA. Robinson WP, et al. Among authors: bernasconi f. J Med Genet. 1993 Sep;30(9):756-60. doi: 10.1136/jmg.30.9.756. J Med Genet. 1993. PMID: 8411071 Free PMC article.

9

Isochromosome 18p results from maternal meiosis II nondisjunction.

Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, Höller A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A. Kotzot D, et al. Among authors: bernasconi f. Eur J Hum Genet. 1996;4(3):168-74. doi: 10.1159/000472191. Eur J Hum Genet. 1996. PMID: 8840117

10

A somatic origin of homologous Robertsonian translocations and isochromosomes.

Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Lüleci G, et al. Robinson WP, et al. Among authors: bernasconi f. Am J Hum Genet. 1994 Feb;54(2):290-302. Am J Hum Genet. 1994. PMID: 8304346 Free PMC article.

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