Evidence map›Paper›PMID 28961165›Full record

ArticleInternational journal of molecular sciences2017

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana Carli and 4 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
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

14 authors.

Francesco BonattiMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. fra.bonatti@gmail.com.
Alessia AdorniMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. nalessia.tin@gmail.com.
Annalisa MatichecchiaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. annalisa.matichecchia@gmail.com.
Paola MozzoniMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. paola.mozzoni@unipr.it.
Vera UlianaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. vuliana@ao.pr.it.
Francesco PisaniChildren's Neuropsycological Services, University Hospital of Parma, 43126 Parma, Italy. francesco.pisani@unipr.it.
Livia GaravelliClinical Genetics, IRCCS S. Maria Nuova Hospital, Reggio 42123 Emilia, Italy. Livia.Garavelli@asmn.re.it.
Claudio GrazianoMedical Genetics, S. Orsola-Malpighi University Hospital, 40138 Bologna, Italy. claudio.graziano@unibo.it.
Maria GnoliMedical Genetics and Skeletal Rare Diseases, Istituto Ortopedico Rizzoli, 40126 Bologna, Italy. maria.gnoli@ior.it.
Diana CarliMedical Genetics, Città della Salute e della Scienza University Hospital, 10126 Torino, Italy. diana.carli@unito.it.ORCID 0000-0001-5690-6504
Stefania BigoniUOL Medical Genetics, University of Ferrara, 44121 Ferrara, Italy. stefania.bigoni@unife.it.
Elena BoschiPlastic Surgery, University Hospital of Parma, 43126 Parma, Italy. eboschi@ao.pr.it.
Davide MartoranaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. dmartorana@ao.pr.it.
Antonio PercesepeMedical Genetics, University Hospital of Parma, 43126 Parma, Italy. antonio.percesepe@unipr.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurofibromatosis type I, a genetic disorder due to mutations in the

Indexed as

Genetic Association StudiesMutationAdultAllelesGenes, Neurofibromatosis 1GenotypeHumansNeurofibromatosis 1Neurofibromin 1PhenotypeNeurofibromin 1genotype/phenotype correlationneurofibromatosis type INF1 gene

Identifiers

PMID28961165
PMCPMC5666753

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.