Guanciali-Franchi P - Search Results

1

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Dell'Edera D, Allegretti A, Ventura M, Mercuri L, Mitidieri A, Cuscianna G, Epifania AA, Morizio E, Alfonsi M, Guanciali-Franchi P. Dell'Edera D, et al. Among authors: guanciali franchi p. J Med Case Rep. 2021 Apr 21;15(1):208. doi: 10.1186/s13256-021-02716-6. J Med Case Rep. 2021. PMID: 33883018 Free PMC article.

2

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.

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

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

5

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.

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

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

9

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

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