Guanciali Franchi P - Search Results

1

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. Among authors: guanciali franchi p. Pediatrics. 2012 Jan;129(1):e183-8. doi: 10.1542/peds.2010-2094. Epub 2011 Dec 5. Pediatrics. 2012. PMID: 22144704

2

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

3

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.

4

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

5

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. Among authors: guanciali franchi p. Ann Genet. 1989;32(1):55-8. Ann Genet. 1989. PMID: 2751250

6

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: guanciali franchi p. Eur J Hum Genet. 1998 May-Jun;6(3):187-93. doi: 10.1038/sj.ejhg.5200173. Eur J Hum Genet. 1998. PMID: 9781021

7

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

8

Deletion of the SHOX gene in patients with short stature of unknown cause.

Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G. Morizio E, et al. Among authors: guanciali franchi p. Am J Med Genet A. 2003 Jun 15;119A(3):293-6. doi: 10.1002/ajmg.a.20198. Am J Med Genet A. 2003. PMID: 12784295

9

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. Among authors: guanciali franchi p, franchi s. Cytogenet Genome Res. 2012;136(1):1-5. doi: 10.1159/000334111. Epub 2011 Nov 12. Cytogenet Genome Res. 2012. PMID: 22086126

10

Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Palka C, Alfonsi M, Mohn A, Guanciali Franchi P, Chiarelli F, Calabrese G. Palka C, et al. Among authors: guanciali franchi p. Mol Syndromol. 2012 Apr;2(6):259-261. doi: 10.1159/000337925. Epub 2012 Apr 27. Mol Syndromol. 2012. PMID: 22822387 Free PMC article.

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