ArticleDiagnostics (Basel, Switzerland)2023
De Novo Large Deletions in the
Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo and 4 more
Open access · goldAbstract read
In one paragraphArticle in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 83% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
14 authors at 3 institutions in 1 country.
Carmine PecoraroPaediatric Nephrology, Dialysis and Renal Transplantation Unit, Santobono Pausilipon Children's Hospital, 80129 Naples, Italy.
Tiziana FiorettiCEINGE-Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Assunta PerrunoPrimary Care Pediatrician, ASL NA2 North, 80027 Naples, Italy.
Antonella KlainPediatric Endocrinology Unit, Santobono Pausilipon Children's Hospital, 80129 Naples, Italy.
Daniela CioffiPediatric Endocrinology Unit, Santobono Pausilipon Children's Hospital, 80129 Naples, Italy.
Adelaide AmbrosioCEINGE-Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Diego PassaroCEINGE-Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Luigi Annicchiarico PetruzzelliPaediatric Nephrology, Dialysis and Renal Transplantation Unit, Santobono Pausilipon Children's Hospital, 80129 Naples, Italy.ORCID 0000-0002-4913-9068 Carmela Di DomenicoCEINGE-Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Domenico de GirolamoCEINGE-Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Sabrina ValloneDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, 80131 Naples, Italy.
Fabio CattaneoDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0002-5833-8333 Rosario AmmendolaDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0003-1655-8028 Ceinge Biotecnologie Avanzate (Italy) · ITSantobono Children's Hospital · ITUniversity of Naples Federico II · IT
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Pathogenic variants in the
Indexed as
burosumabFGF23heterozygous deletionhypophosphatemic ricketsmultiple ligation probe amplificationnext-generation sequencingPHEX genetherapyX-linked dominant hypophosphataemia
Identifiers
PMID37568915
PMCPMC10417872
OpenAlexW4385445571
What OpenQuestion holds
Textmetadata
LicenceCC BY
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