Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.

Sabria-Back J, Monteagudo-Sánchez A, Sánchez-Delgado M, Ferguson-Smith AC, Gómez O, Pertierra Cartada A, Tenorio J, Nevado J, Lapunzina P, Pereda Aguirre A, Giménez Sevilla C, Toro Toro E, Perez de Nanclares G, Monk D.

Open source

DOI: 10.1136/jmedgenet-2020-107433
Published: 2021-02-12
Container: J Med Genet
Publisher: Not recorded
Open access: no

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2020-107433,
  title = {Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.},
  author = {Sabria-Back J and  Monteagudo-Sánchez A and  Sánchez-Delgado M and  Ferguson-Smith AC and  Gómez O and  Pertierra Cartada A and  Tenorio J and  Nevado J and  Lapunzina P and  Pereda Aguirre A and  Giménez Sevilla C and  Toro Toro E and  Perez de Nanclares G and  Monk D.},
  year = {2022},
  journal = {J Med Genet},
  doi = {10.1136/jmedgenet-2020-107433},
  url = {https://doi.org/10.1136/jmedgenet-2020-107433}
}

RIS

TY  - JOUR
TI  - Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.
AU  - Sabria-Back J
AU  -  Monteagudo-Sánchez A
AU  -  Sánchez-Delgado M
AU  -  Ferguson-Smith AC
AU  -  Gómez O
AU  -  Pertierra Cartada A
AU  -  Tenorio J
AU  -  Nevado J
AU  -  Lapunzina P
AU  -  Pereda Aguirre A
AU  -  Giménez Sevilla C
AU  -  Toro Toro E
AU  -  Perez de Nanclares G
AU  -  Monk D.
PY  - 2022
JO  - J Med Genet
DO  - 10.1136/jmedgenet-2020-107433
UR  - https://doi.org/10.1136/jmedgenet-2020-107433
ER  -

APA

J, S., A, M., M, S., AC, F., O, G., A, P. C., J, T., J, N., P, L., A, P. A., C, G. S., E, T. T., G, P. D. N., & D., M. (2022). Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.. J Med Genet. https://doi.org/10.1136/jmedgenet-2020-107433

Source records

europe-pmc · retrieved 2026-09-26T05:36:45.653Z