Guanciali-Franchi P - Search Results

1

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.

2

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. Mol Syndromol. 2012 Apr;2(6):259-261. doi: 10.1159/000337925. Epub 2012 Apr 27. Mol Syndromol. 2012. PMID: 22822387 Free PMC article.

3

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

4

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

Guanciali-Franchi P, Di Luzio L, Iezzi I, Celentano C, Matarrelli B, Liberati M, Palka G. Guanciali-Franchi P, et al. J Prenat Med. 2012 Jan;6(1):7-9. J Prenat Med. 2012. PMID: 22905304 Free PMC article.

5

A case of triploidy detected by crosstrimester test.

Guanciali-Franchi P, Iezzi I, Matarrelli B, Morizio E, Calabrese G, Palka G. Guanciali-Franchi P, et al. J Prenat Med. 2012 Jul;6(3):55-6. J Prenat Med. 2012. PMID: 23181174 Free PMC article.

6

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.

7

Non-invasive prenatal screening: A 20-year experience in Italy.

Palka C, Guanciali-Franchi P, Morizio E, Alfonsi M, Papponetti M, Sabbatinelli G, Palka G, Calabrese G, Benn P. Palka C, et al. Among authors: guanciali franchi p. Eur J Obstet Gynecol Reprod Biol X. 2019 May 18;3:100050. doi: 10.1016/j.eurox.2019.100050. eCollection 2019 Jul. Eur J Obstet Gynecol Reprod Biol X. 2019. PMID: 31403132 Free PMC article. Review.

8

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.

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. Cytogenet Genome Res. 2012;136(1):1-5. doi: 10.1159/000334111. Epub 2011 Nov 12. Cytogenet Genome Res. 2012. PMID: 22086126

10

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.

di Vera E, Liberati M, Celentano C, Calabrese G, Guanciali-Franchi PE, Morizio E, Rotmensch S. di Vera E, et al. J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):577-80. doi: 10.1007/s10815-008-9257-7. Epub 2008 Oct 25. J Assist Reprod Genet. 2008. PMID: 18953648 Free PMC article.

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