Evidence map›Paper›PMID 33203071›Full record

ArticleInternational journal of molecular sciences2020

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.

Cristina Bertulli, Antonio Marzollo, Margherita Doria, Silvia Di Cesare, Claudio La Scola, Francesca Mencarelli, Andrea Pasini, Maria Carmen Affinita, Enrico Vidal, Pamela Magini and 6 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.8field-weighted citation impact, top 8% of its field
1 · What the graph read from it

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 registry

The 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 literature

Who cites it

15 citing papers in PubMed, 42 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Schimke immuno-osseous dysplasia. A case report in Colombia.Molecular genetics and metabolism reports · 2023
    Article
  11. Review
  12. Epigenetic Alterations in Inborn Errors of Immunity.Journal of clinical medicine · 2022
    Review
  13. Review
  14. Article
  15. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 6 institutions in 1 country.

Cristina BertulliNephrology and Dialysis Unit, Department of Pediatrics, S. Orsola-Malpighi Hospital Scientific Institute for Research and Healthcare (IRCCS), 40138 Bologna, Italy.
Antonio MarzolloPediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, 35128 Padua, Italy.ORCID 0000-0003-2177-8500
Margherita DoriaUnit of Primary Immunodeficiency, Academic Department of Pediatrics (DPUO), Bambino Gesù Childrens' Hospital-Scientific Institute for Research and Healthcare (IRCCS), 00165 Rome, Italy.ORCID 0000-0001-5533-0304
Silvia Di CesareUnit of Primary Immunodeficiency, Academic Department of Pediatrics (DPUO), Bambino Gesù Childrens' Hospital-Scientific Institute for Research and Healthcare (IRCCS), 00165 Rome, Italy.ORCID 0000-0002-9912-7997
Claudio La ScolaNephrology and Dialysis Unit, Department of Pediatrics, S. Orsola-Malpighi Hospital Scientific Institute for Research and Healthcare (IRCCS), 40138 Bologna, Italy.ORCID 0000-0002-2644-7447
Francesca MencarelliNephrology and Dialysis Unit, Department of Pediatrics, S. Orsola-Malpighi Hospital Scientific Institute for Research and Healthcare (IRCCS), 40138 Bologna, Italy.
Andrea PasiniNephrology and Dialysis Unit, Department of Pediatrics, S. Orsola-Malpighi Hospital Scientific Institute for Research and Healthcare (IRCCS), 40138 Bologna, Italy.
Maria Carmen AffinitaPediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, 35128 Padua, Italy.
Enrico VidalDialysis and Transplantation Unit, Pediatric Nephrology, Department of Woman's and Child's Health, University Hospital of Padua, 35128 Padua, Italy.ORCID 0000-0003-3963-0803
Pamela MaginiMedical Genetics Unit, Department of Medical and Surgical Science, S. Orsola-Malpighi Hospital_Scientific Institute for Research and Healthcare (IRCCS), 40138 Bologna, Italy.
Paola DimartinoMedical Genetics Unit, DIMEC, University of Bologna, 40138 Bologna, Italy.
Riccardo Masetti"Lalla Seràgnoli", Hematology-Oncology Unit, Department of Pediatrics, University of Bologna, 40138 Bologna, Italy.ORCID 0000-0002-1264-057X
Laura GrecoPediatric Radiology Unit, Department of Diagnostic and Preventive Medicine, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy.ORCID 0000-0002-3914-8614
Patrizia PalombaImmunology Research Area-Unit of Diagnostic Immunology, Unit of B-cell Pathophysiology, Department of Laboratories, IRCCS Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy.
Francesca ContiPediatric Unit, Department of Woman, Child and Urologic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-3665-8926
Andra Pession"Lalla Seràgnoli", Hematology-Oncology Unit, Department of Pediatrics, University of Bologna, 40138 Bologna, Italy.
IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · ITBambino Gesù Children's Hospital · ITUniversity of Padua · ITAzienda USL di Bologna · ITUniversity of Bologna · ITIstituti di Ricovero e Cura a Carattere Scientifico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in

Indexed as

ArteriosclerosisDNA HelicasesKidneyKiller Cells, NaturalMutation, MissenseNephroma, MesoblasticNephrotic SyndromeOsteochondrodysplasiasPhenotypePrimary Immunodeficiency DiseasesPulmonary EmbolismUrinary TractAmino Acid SubstitutionFemaleHumansInterleukin-7 Receptor alpha SubunitDNA HelicasesIL7R protein, humanInterleukin-7 Receptor alpha SubunitSMARCAL1 protein, humancongenitalconsanguinityDNA methylationhereditaryimmune system diseasesneonatal diseases and abnormalities

Identifiers

PMID33203071
PMCPMC7696905
OpenAlexW3103115506

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.