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

2

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.

Stuppia L, Gatta V, Scarciolla O, Antonucci I, Morizio E, Calabrese G, Palka G. Stuppia L, et al. Among authors: morizio e. Genomics. 2005 Feb;85(2):280-3. doi: 10.1016/j.ygeno.2004.10.015. Genomics. 2005. PMID: 15676287

3

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L. Gatta V, et al. Among authors: morizio e. J Hum Genet. 2007;52(1):21-27. doi: 10.1007/s10038-006-0074-5. Epub 2006 Nov 8. J Hum Genet. 2007. PMID: 17091221

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. Among authors: morizio e. 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

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: morizio e. 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

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. Among authors: morizio e. Clin Dysmorphol. 2013 Jul;22(3):132-134. doi: 10.1097/MCD.0b013e328363023b. Clin Dysmorphol. 2013. PMID: 23722703 No abstract available.

7

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

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

9

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. 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

10

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

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

56 results

Search Page

Filters