Guanciali-Franchi P - Search Results

1

Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Colangelo M, Alfonsi M, Palka C, Zio EZ, Renzo SD, Guanciali-Franchi P, Palka G. Colangelo M, et al. Among authors: guanciali franchi p. J Genet. 2018 Mar;97(1):311-317. J Genet. 2018. PMID: 29666350 Free article.

2

A new case of pure partial 7q duplication.

Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F. Alfonsi M, et al. Cytogenet Genome Res. 2012;136(1):1-5. doi: 10.1159/000334111. Epub 2011 Nov 12. Cytogenet Genome Res. 2012. PMID: 22086126

3

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).

Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. Gatta V, et al. Hum Genet. 2005 Jun;117(1):92-8. doi: 10.1007/s00439-005-1270-7. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841391

4

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

Guanciali-Franchi P, Calabrese G, Morizio E, Gatta V, Palka C, Stuppia L, Zuffardi O. Guanciali-Franchi P, et al. Eur J Med Genet. 2008 May-Jun;51(3):239-44. doi: 10.1016/j.ejmg.2008.02.002. Epub 2008 Feb 13. Eur J Med Genet. 2008. PMID: 18378203

5

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.

Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, Morizio E, Stuppia L, Calabrese G, Zori R, Chiarelli F, Palka G. Palka C, et al. Pediatrics. 2012 Jan;129(1):e183-8. doi: 10.1542/peds.2010-2094. Epub 2011 Dec 5. Pediatrics. 2012. PMID: 22144704

6

A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22.

Parruti G, Di Ilio C, Calabrese G, Stuppia L, Guanciali Franchi P, Aceto A, Palka G. Parruti G, et al. Ann Genet. 1989;32(1):55-8. Ann Genet. 1989. PMID: 2751250

7

A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female.

Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Morizio E, Peila R, Antonucci A. Palka G, et al. Clin Genet. 1994 Feb;45(2):93-6. doi: 10.1111/j.1399-0004.1994.tb04001.x. Clin Genet. 1994. PMID: 8004805

8

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. Am J Med Genet. 2000 Jan 3;90(1):35-7. Am J Med Genet. 2000. PMID: 10602115

9

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Guanciali-Franchi P, Celentano C, Alfonsi M, Palka C, Di Pasqua G, Matarrelli B, Palka G. Guanciali-Franchi P, et al. Mol Syndromol. 2017 Jan;8(1):42-44. doi: 10.1159/000452967. Epub 2016 Dec 3. Mol Syndromol. 2017. PMID: 28232782 Free PMC article.

10

First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

Giansante R, Palka Bayard De Volo C, Alfonsi M, Morizio E, Guanciali Franchi P. Giansante R, et al. Among authors: guanciali franchi p. Mol Cytogenet. 2022 Jun 27;15(1):26. doi: 10.1186/s13039-022-00601-5. Mol Cytogenet. 2022. PMID: 35761408 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

77 results

Search Page