Orlando V - Search Results

1

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.

Alesi V, Dentici ML, Genovese S, Loddo S, Bellacchio E, Orlando V, Di Tommaso S, Catino G, Calacci C, Calvieri G, Pompili D, Ubertini G, Dallapiccola B, Capolino R, Novelli A. Alesi V, et al. Among authors: orlando v. Int J Mol Sci. 2021 Jan 13;22(2):750. doi: 10.3390/ijms22020750. Int J Mol Sci. 2021. PMID: 33451138 Free PMC article.

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

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: orlando v. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.

7

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.

8

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.

9

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.

10

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

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