Paper · 42472134

HNF1A-Maturity-Onset Diabetes of the Young (MODY) in a Family With a Rare Silent Variant: Clinical Challenges and Variable Expressivity.

Carvalho R and 2 others. Cureus, 2026. Cited by 0 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. HNF1A-Maturity-Onset Diabetes of the Young (MODY) in a Family With a Rare Silent Variant: Clinical Challenges and Variable Expressivity. Papers, record 42472134. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/42472134

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: HNF1A-Maturity-Onset Diabetes of the Young (MODY) in a Family With a Rare Silent Variant: Clinical Challenges and Variable Expressivity.; PubMed
Journal: Cureus; PubMed
Year: 2026; PubMed
Publication types: Case Reports, Journal Article; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/42472134/; PubMed
DOI: https://doi.org/10.7759/cureus.111076; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC13379866/; PubMed
The journal: https://conductscience.org/library/journal-index/101596737; PubMed
Citations, by iCite: 0; iCite
Revised in PubMed: 2026-08-13; PubMed

Authors3

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename
1	Carvalho R	Rita
2	Moreira B	Biana
3	Parente S	Susana

Source PubMed

Topics0

NLM's MeSH indexing of the paper, its major topics first.

None in this release.

Grants0

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None in this release.

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

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None in this release.

References11

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	41,751,604	Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.	Genes (Basel)	2026	https://conductscience.org/library/papers/41751604	PubMed
2	36,537,518	ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.	Pediatr Diabetes	2022	https://conductscience.org/library/papers/36537518	PubMed
3	29,222,740	A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations.	Diabetes Ther	2018	https://conductscience.org/library/papers/29222740	PubMed
4	32,238,361	New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.	BMJ Open Diabetes Res Care	2020	https://conductscience.org/library/papers/32238361	PubMed
5	24,954,581	Exposing synonymous mutations.	Trends Genet	2014	https://conductscience.org/library/papers/24954581	PubMed
6	32,528,556	Update on clinical screening of maturity-onset diabetes of the young (MODY).	Diabetol Metab Syndr	2020	https://conductscience.org/library/papers/32528556	PubMed
7	34,496,959	Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience.	Diabetol Metab Syndr	2021	https://conductscience.org/library/papers/34496959	PubMed
8	23,771,925	Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth.	J Clin Endocrinol Metab	2013	https://conductscience.org/library/papers/23771925	PubMed
9	25,741,868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Genet Med	2015	https://conductscience.org/library/papers/25741868	PubMed
10	39,902,162	Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.	Front Endocrinol (Lausanne)	2024	https://conductscience.org/library/papers/39902162	PubMed

1 to 10 of 11

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Cited by0

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 0 citations.

None in this release.

Genes2

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

Gene	NCBI Gene ID	Linked by	In Genes	Source
HNF1A	6,927	PubTator's text mining	https://conductscience.org/library/genes/6927	NCBI Gene
INS	3,630	PubTator's text mining	https://conductscience.org/library/genes/3630	NCBI Gene

Drugs0

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None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

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PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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