Tupler R - Search Results

1

Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J. Thorpe J, et al. Among authors: tupler r. Annu Rev Genet. 2020 Nov 23;54:487-510. doi: 10.1146/annurev-genet-041720-093403. Epub 2020 Sep 11. Annu Rev Genet. 2020. PMID: 32916079 Free PMC article. Review.

2

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R. Scionti I, et al. Among authors: tupler r. J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3. J Med Genet. 2012. PMID: 22217918

3

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.

Pini S, Napoli FM, Tagliafico E, La Marca A, Bertucci E, Salsi V, Tupler R. Pini S, et al. Among authors: tupler r. Clin Genet. 2023 Feb;103(2):242-246. doi: 10.1111/cge.14250. Epub 2022 Oct 23. Clin Genet. 2023. PMID: 36250762 Free PMC article.

4

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Among authors: tupler r. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.

5

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.

Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R. Bettio C, et al. Among authors: tupler r. Orphanet J Rare Dis. 2021 Nov 4;16(1):470. doi: 10.1186/s13023-021-02100-z. Orphanet J Rare Dis. 2021. PMID: 34736505 Free PMC article.

6

Altered gene silencing and human diseases.

Perini G, Tupler R. Perini G, et al. Among authors: tupler r. Clin Genet. 2006 Jan;69(1):1-7. doi: 10.1111/j.1399-0004.2005.00540.x. Clin Genet. 2006. PMID: 16451126 Review.

7

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene.

Tupler R, Rogaeva E, Vaula G, Mortilla M, Lukiw W, Liang Y, Hancock R, Rogaev E, St George-Hyslop P. Tupler R, et al. Hum Mol Genet. 1993 May;2(5):620. doi: 10.1093/hmg/2.5.620. Hum Mol Genet. 1993. PMID: 8518820 No abstract available.

8

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.

Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, et al. Tanzi RE, et al. Among authors: tupler rg. Am J Hum Genet. 1992 Aug;51(2):273-82. Am J Hum Genet. 1992. PMID: 1642228 Free PMC article.

9

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Tupler R, et al. J Med Genet. 1996 May;33(5):366-70. doi: 10.1136/jmg.33.5.366. J Med Genet. 1996. PMID: 8733044 Free PMC article.

10

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, Tiepolo L, Ferlini A. Tupler R, et al. J Med Genet. 1998 Sep;35(9):778-83. doi: 10.1136/jmg.35.9.778. J Med Genet. 1998. PMID: 9733041 Free PMC article.

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