Orlando V - Search Results

1

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

Catino G, Genovese S, Di Tommaso S, Orlando V, Petti MT, De Bernardi ML, Dallapiccola B, Novelli A, Ulgheri L, Piscopo C, Alesi V. Catino G, et al. Among authors: orlando v. Am J Med Genet A. 2022 Jun;188(6):1836-1847. doi: 10.1002/ajmg.a.62694. Epub 2022 Mar 3. Am J Med Genet A. 2022. PMID: 35238482

2

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Alesi V, et al. Among authors: orlando v. Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6. Cytogenet Genome Res. 2017. PMID: 28478456

3

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Alesi V, Dentici ML, Restaldi F, Orlando V, Liambo MT, Calacci C, Capolino R, Digilio MC, El Hachem M, Novelli A, Diociaiuti A, Dallapiccola B. Alesi V, et al. Among authors: orlando v. Am J Med Genet A. 2017 Jul;173(7):1943-1946. doi: 10.1002/ajmg.a.38269. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489314

4

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Alesi V, Dentici ML, Loddo S, Genovese S, Orlando V, Calacci C, Pompili D, Dallapiccola B, Digilio MC, Novelli A. Alesi V, et al. Among authors: orlando v. Ann Hum Genet. 2019 Mar;83(2):100-109. doi: 10.1111/ahg.12289. Epub 2018 Oct 10. Ann Hum Genet. 2019. PMID: 30302754

5

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.

Loddo S, Alesi V, Genovese S, Orlando V, Calacci C, Restaldi F, Pompili D, Liambo MT, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Loddo S, et al. Among authors: orlando v. Cytogenet Genome Res. 2018;156(2):87-94. doi: 10.1159/000493935. Epub 2018 Oct 30. Cytogenet Genome Res. 2018. PMID: 30372694

6

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A. Alesi V, et al. Among authors: orlando v. Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30. Am J Med Genet A. 2019. PMID: 31145527 Review.

7

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.

Paduano F, Colao E, Loddo S, Orlando V, Trapasso F, Novelli A, Perrotti N, Iuliano R. Paduano F, et al. Among authors: orlando v. Genes (Basel). 2020 May 8;11(5):525. doi: 10.3390/genes11050525. Genes (Basel). 2020. PMID: 32397165 Free PMC article.

8

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

Loddo S, Alesi V, Radio FC, Genovese S, Di Tommaso S, Calvieri G, Orlando V, Bertini E, Dentici ML, Novelli A, Dallapiccola B. Loddo S, et al. Among authors: orlando v. Am J Med Genet A. 2020 Dec;182(12):3014-3022. doi: 10.1002/ajmg.a.61889. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985083 Review.

9

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B. Alesi V, et al. Among authors: orlando v. Am J Med Genet A. 2021 Jan;185(1):242-249. doi: 10.1002/ajmg.a.61937. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098373

10

Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.

Orlando V, Alesi V, Di Giacomo G, Canestrelli M, Calacci C, Nardone AM, Calvieri G, Liambo MT, Sallicandro E, Di Tommaso S, Di Gregorio MG, Corrado F, Barrano G, Niceta M, Dallapiccola B, Novelli A. Orlando V, et al. Reprod Sci. 2021 Apr;28(4):1142-1149. doi: 10.1007/s43032-020-00419-9. Epub 2021 Jan 6. Reprod Sci. 2021. PMID: 33409881

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

260 results

Search Page

Filters