Evidence map›Paper›PMID 39596525›Full record

ArticleInternational journal of molecular sciences2024

Biallelic Germline

Anne Helbling-Leclerc, Marie Falampin, Abdelkader Heddar, Léa Guerrini-Rousseau, Maud Marchand, Iphigenie Cavadias, Nathalie Auger, Brigitte Bressac-de Paillerets, Laurence Brugieres, Bernard S Lopez and 3 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Double jeopardy: howFrontiers in cell and developmental biology · 2026
    Review
  2. 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

13 authors.

Anne Helbling-LeclercGenome Integrity and Cancer, CNRS UMR9019, Université Paris-Saclay, Gustave Roussy, 94805 Villejuif, France.ORCID 0000-0002-2686-2798
Marie FalampinService d'Endocrinologie, Gynécologie et Diabétologie Pédiatrique, APHP Hôpital Universitaire Necker Enfants Malades, 75743 Paris, France.
Abdelkader HeddarUnité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Laboratoire de Référence Pour les Infertilités Génétiques, APHP Hôpitaux Universitaires Paris-Saclay, Faculté de Médecine Paris Saclay, Hôpital Bicêtre, 94275 Le Kremlin-Bicêtre, France.ORCID 0000-0002-1966-5462
Léa Guerrini-RousseauDépartement de Cancérologie de L'enfant et de L'adolescent, Gustave Roussy, Université Paris Saclay, 94805 Villejuif, France.
Maud MarchandService d'Endocrinologie, Gynécologie et Diabétologie Pédiatrique, APHP Hôpital Universitaire Necker Enfants Malades, 75743 Paris, France.
Iphigenie CavadiasService d'Endocrinologie, Gynécologie et Diabétologie Pédiatrique, APHP Hôpital Universitaire Necker Enfants Malades, 75743 Paris, France.ORCID 0000-0002-4599-4729
Nathalie AugerDépartement de Biologie et de Pathologie Médicales, Gustave Roussy, 94805 Villejuif, France.ORCID 0000-0002-9744-4470
Brigitte Bressac-de PailleretsDépartement de Biologie et Pathologies Médicales et U1279 INSERM, Gustave Roussy, Université Paris-Saclay, 94805 Villejuif, France.ORCID 0000-0003-0245-8608
Laurence BrugieresDépartement de Cancérologie de L'enfant et de L'adolescent, Gustave Roussy, Université Paris Saclay, 94805 Villejuif, France.ORCID 0000-0002-7798-6651
Bernard S LopezFaculte de Medecine, INSERM 1016, UMR 80104 CNRS, Institut Cochin, Université de Paris-Cité, 24 Rue du Faubourg ST Jacques, 75014 Paris, France.
Michel PolakService d'Endocrinologie, Gynécologie et Diabétologie Pédiatrique, APHP Hôpital Universitaire Necker Enfants Malades, 75743 Paris, France.
Filippo RosselliGenome Integrity and Cancer, CNRS UMR9019, Université Paris-Saclay, Gustave Roussy, 94805 Villejuif, France.ORCID 0000-0003-1080-5745
Micheline MisrahiUnité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Laboratoire de Référence Pour les Infertilités Génétiques, APHP Hôpitaux Universitaires Paris-Saclay, Faculté de Médecine Paris Saclay, Hôpital Bicêtre, 94275 Le Kremlin-Bicêtre, France.ORCID 0000-0002-5379-8859

Funding

French Biomedicine Agency. reference number PFS12-002
6 · The paper itself

Abstract

The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic heterogeneity. In contrast, the causes of diminished ovarian reserve (DOR) remain poorly understood. Here, we identified by NGS and whole exome sequencing (WES) the cause of isolated DOR in a 14-year-old patient. Two frameshift mutations in

Indexed as

BRCA1 ProteinFrameshift MutationGerm-Line MutationOvarian ReserveAdolescentAllelesExome SequencingFemaleHigh-Throughput Nucleotide SequencingHumansPrimary Ovarian InsufficiencyBRCA1 ProteinBRCA1 protein, humanBRCA1 mutationdiminished ovarian reserveDNA repairFanconi anemiagenetic counselingmeiosisprimary ovarian insufficiency

Identifiers

PMID39596525
PMCPMC11594631

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.