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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2017 | 1 |
2018 | 2 |
2019 | 2 |
2020 | 1 |
2021 | 2 |
2024 | 0 |
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Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
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
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: pompili d.
Int J Mol Sci. 2021 Jan 13;22(2):750. doi: 10.3390/ijms22020750.
Int J Mol Sci. 2021.
PMID: 33451138
Free PMC article.
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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: pompili d.
Cytogenet Genome Res. 2018;156(2):87-94. doi: 10.1159/000493935. Epub 2018 Oct 30.
Cytogenet Genome Res. 2018.
PMID: 30372694
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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: pompili d.
Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6.
Cytogenet Genome Res. 2017.
PMID: 28478456
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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A.
Restaldi F, et al. Among authors: pompili d.
Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019.
Mol Cytogenet. 2019.
PMID: 31223340
Free PMC article.
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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: pompili d.
Ann Hum Genet. 2019 Mar;83(2):100-109. doi: 10.1111/ahg.12289. Epub 2018 Oct 10.
Ann Hum Genet. 2019.
PMID: 30302754
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