Alfonsi M - Search Results

1

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.

Palka C, Alfonsi M, Morizio E, Soranno A, La Rovere D, Matarrelli B, Rullo AL, Zori R, Chiarelli F, Calabrese G. Palka C, et al. Among authors: alfonsi m. Eur J Med Genet. 2011 May-Jun;54(3):333-6. doi: 10.1016/j.ejmg.2011.02.003. Epub 2011 Feb 24. Eur J Med Genet. 2011. PMID: 21354345

2

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.

Palka-Bayard-de-Volo C, De Marco S, Chiavaroli V, Alfonsi M, Calabrese G, Chiarelli F, Mohn A. Palka-Bayard-de-Volo C, et al. Among authors: alfonsi m. Gene. 2012 Aug 1;504(1):107-10. doi: 10.1016/j.gene.2012.05.009. Epub 2012 May 11. Gene. 2012. PMID: 22583828

3

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

4

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: alfonsi m. Pediatrics. 2012 Jan;129(1):e183-8. doi: 10.1542/peds.2010-2094. Epub 2011 Dec 5. Pediatrics. 2012. PMID: 22144704

5

16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.

Palka Bayard de Volo C, Alfonsi M, Gatta V, Novelli A, Bernardini L, Fantasia D, Antonucci I, Angelucci D, Zori R, Stuppia L, Chiarelli F, Calabrese G. Palka Bayard de Volo C, et al. Among authors: alfonsi m. Gene. 2012 May 1;498(2):328-31. doi: 10.1016/j.gene.2012.01.028. Epub 2012 Feb 3. Gene. 2012. PMID: 22326525

6

De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

Alfonsi M, Palka C, Morizio E, Gatta V, Antonucci I, Ruggeri G, Chiarelli F, Stuppia L, Palka G, Calabrese G. Alfonsi M, et al. Clin Dysmorphol. 2013 Jul;22(3):132-134. doi: 10.1097/MCD.0b013e328363023b. Clin Dysmorphol. 2013. PMID: 23722703 No abstract available.

7

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

Verrotti A, Palka C, Prezioso G, Alfonsi M, Calabrese G, Palka G, Chiarelli F. Verrotti A, et al. Among authors: alfonsi m. Cytogenet Genome Res. 2015;146(2):115-119. doi: 10.1159/000438502. Epub 2015 Aug 13. Cytogenet Genome Res. 2015. PMID: 26278570

8

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. Among authors: alfonsi m. Mol Syndromol. 2017 Jan;8(1):42-44. doi: 10.1159/000452967. Epub 2016 Dec 3. Mol Syndromol. 2017. PMID: 28232782 Free PMC article.

9

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: alfonsi m. J Genet. 2018 Mar;97(1):311-317. J Genet. 2018. PMID: 29666350

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: alfonsi m. 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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