Mingarelli R - Search Results

1

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization.

Calabrese G, Mingarelli R, Francalanci P, Boldrini R, Palka G, Bosman C, Novelli G, Dallapiccola B. Calabrese G, et al. Among authors: mingarelli r. Hum Genet. 1996 Apr;97(4):414-7. doi: 10.1007/BF02267058. Hum Genet. 1996. PMID: 8834234

2

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B. Mari A, et al. Among authors: mingarelli r. Hum Genet. 1995 Oct;96(4):444-8. doi: 10.1007/BF00191804. Hum Genet. 1995. PMID: 7557968

3

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B. Amati F, et al. Among authors: mingarelli r. Hum Genet. 1995 May;95(5):479-82. doi: 10.1007/BF00223856. Hum Genet. 1995. PMID: 7759065

4

Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male.

Palka G, Calabrese G, Mingarelli R, Guanciali Franchi P, Stuppia L, Morizio E, Peila R, Antonucci A. Palka G, et al. Among authors: mingarelli r. Clin Genet. 1995 Oct;48(4):213-6. doi: 10.1111/j.1399-0004.1995.tb04091.x. Clin Genet. 1995. PMID: 8591674

5

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.

Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiuolo F, Calabrese G, Palka G, Silani V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dallapiccola B. Pizzuti A, et al. Among authors: mingarelli r. Am J Hum Genet. 1996 Apr;58(4):722-9. Am J Hum Genet. 1996. PMID: 8644734 Free PMC article.

6

Molecular studies in three patients with isodicentric Y chromosome.

Stuppia L, Calabrese G, Franchi PG, Mingarelli R, Morizio E, Sabatino G, Palka G. Stuppia L, et al. Among authors: mingarelli r. Hum Genet. 1996 Dec;98(6):691-5. doi: 10.1007/s004390050286. Hum Genet. 1996. PMID: 8931702

7

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11.

Stuppia L, Gatta V, Calabrese G, Guanciali Franchi P, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G. Stuppia L, et al. Among authors: mingarelli r. Hum Genet. 1998 May;102(5):566-70. doi: 10.1007/s004390050741. Hum Genet. 1998. PMID: 9654206

8

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.

Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenga PE, Palka G, Dallapiccola B. Calabrese G, et al. Among authors: mingarelli r. Eur J Hum Genet. 1998 May-Jun;6(3):187-93. doi: 10.1038/sj.ejhg.5200173. Eur J Hum Genet. 1998. PMID: 9781021

9

X/Y translocation in a family with Leri-Weill dyschondrosteosis.

Calabrese G, Fischetto R, Stuppia L, Capodiferro F, Mingarelli R, Causio F, Rocchi M, Rappold GA, Palka G. Calabrese G, et al. Among authors: mingarelli r. Hum Genet. 1999 Oct;105(4):367-8. doi: 10.1007/s004399900113. Hum Genet. 1999. PMID: 10543407

10

FISH analysis in detecting 9p duplication (p22p24).

Guanciali Franchi P, Calabrese G, Morizio E, Modestini E, Stuppia L, Mingarelli R, Palka G. Guanciali Franchi P, et al. Among authors: mingarelli r. Am J Med Genet. 2000 Jan 3;90(1):35-7. Am J Med Genet. 2000. PMID: 10602115

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