Works matching DE "MATURITY onset diabetes of the young"

Results: 289

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00312-4

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Hase, Michiyo;
Iwasaki, Naoko

Publication type:

Article

A case of glucokinase maturity-onset diabetes of the young combined with heterozygous lipoprotein lipase deficiency.

Published in:

QJM: An International Journal of Medicine, 2025, v. 118, n. 3, p. 192, doi. 10.1093/qjmed/hcae240

By:

Cao, Conghui;
Wang, Xiaoli

Publication type:

Article

ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia.

Published in:

Clinical Pediatric Endocrinology, 2025, v. 34, n. 1, p. 66, doi. 10.1297/cpe.2024-0038

By:

Uehara, Erika;
Naoto Shimura;
Keiko Matsubara;
Ikuko Kageyama;
Tohru Yorifuji;
Maki Fukami

Publication type:

Article

Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.

Published in:

Acta Diabetologica, 2024, v. 61, n. 7, p. 917, doi. 10.1007/s00592-024-02273-6

By:

Çavdarlı, Cemal;
Büyükyılmaz, Gönül;
Çavdarlı, Büşranur;
Çomçalı, Sebile;
Topçu Yılmaz, Pınar;
Alp, Mehmet Numan

Publication type:

Article

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Published in:

Acta Diabetologica, 2024, v. 61, n. 2, p. 181, doi. 10.1007/s00592-023-02193-x

By:

De Sousa, Sunita M. C.;
Wu, Kathy H. C.;
Colclough, Kevin;
Rawlings, Lesley;
Dubowsky, Andrew;
Monnik, Melissa;
Poplawski, Nicola;
Scott, Hamish S.;
Horowitz, Michael;
Torpy, David J.

Publication type:

Article

Partial GCK gene deletion mutations causing maturity-onset diabetes of the young.

Published in:

Acta Diabetologica, 2024, v. 61, n. 1, p. 107, doi. 10.1007/s00592-023-02173-1

By:

Yu, Ruiqi;
Zhang, Haichen;
Xiao, Xinhua

Publication type:

Article

An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

Published in:

Acta Diabetologica, 2024, v. 61, n. 1, p. 131, doi. 10.1007/s00592-023-02171-3

By:

Lucchesi, Daniela;
Randazzo, Emioli;
Del Prato, Stefano;
Bianchi, Cristina

Publication type:

Article

MODY in China: two families carrying the KCNJ11 E229K variant.

Published in:

Acta Diabetologica, 2023, v. 60, n. 9, p. 1287, doi. 10.1007/s00592-023-02114-y

By:

Xiao, Banghui;
Yi, Hongmei;
Zhang, Miao;
Wang, Rui;
Hu, Ying;
Xu, Yi;
Shao, Zhijuan;
Zhang, Song;
Peng, Nianchun

Publication type:

Article

The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.

Published in:

Acta Diabetologica, 2023, v. 60, n. 7, p. 989, doi. 10.1007/s00592-023-02065-4

By:

Silvestri, Francesca;
Tromba, Valeria;
Schiaffini, Riccardo;
Costantino, Francesco;
Barbetti, Fabrizio;
Prudente, Sabrina

Publication type:

Article

Correction to: MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Published in:

Acta Diabetologica, 2023, v. 60, n. 3, p. 459, doi. 10.1007/s00592-023-02035-w

By:

Marucci, Antonella;
Di Paola, Rosa;
Rutigliano, Irene;
Fini, Grazia;
Pezzilli, Serena;
Menzaghi, Claudia;
Trischitta, Vincenzo

Publication type:

Article

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Published in:

Acta Diabetologica, 2023, v. 60, n. 1, p. 131, doi. 10.1007/s00592-022-01982-0

By:

Marucci, Antonella;
Di Paola, Rosa;
Rutigliano, Irene;
Fini, Grazia;
Pezzilli, Serena;
Menzaghi, Claudia;
Trischitta, Vincenzo

Publication type:

Article

Maturity-onset diabetes of the young in a large Portuguese cohort.

Published in:

Acta Diabetologica, 2023, v. 60, n. 1, p. 83, doi. 10.1007/s00592-022-01980-2

By:

Santos Monteiro, Sílvia;
da Silva Santos, Tiago;
Fonseca, Liliana;
Assunção, Guilherme;
Lopes, Ana M.;
Duarte, Diana B.;
Soares, Ana Rita;
Laranjeira, Francisco;
Ribeiro, Isaura;
Pinto, Eugénia;
Rocha, Sónia;
Barbosa Gouveia, Sofia;
Vazquez-Mosquera, María Eugenia;
Oliveira, Maria João;
Borges, Teresa;
Cardoso, Maria Helena

Publication type:

Article

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Published in:

Acta Diabetologica, 2022, v. 59, n. 9, p. 1169, doi. 10.1007/s00592-022-01915-x

By:

Dusatkova, Petra;
Pavlikova, Marketa;
Elblova, Lenka;
Larionov, Vladyslav;
Vesela, Klara;
Kolarova, Katerina;
Sumnik, Zdenek;
Lebl, Jan;
Pruhova, Stepanka

Publication type:

Article

Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients.

Published in:

Acta Diabetologica, 2022, v. 59, n. 8, p. 1113, doi. 10.1007/s00592-022-01889-w

By:

Prudente, Sabrina;
Andreozzi, Francesco;
Mercuri, Luana;
Alberico, Federica;
Di Giamberardino, Alessandra;
Mannino, Gaia Chiara;
Ludovico, Ornella;
Piscitelli, Pamela;
Di Paola, Rosa;
Morano, Susanna;
Penno, Giuseppe;
Carella, Massimo;
De Cosmo, Salvatore;
Trischitta, Vincenzo;
Barbetti, Fabrizio

Publication type:

Article

Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.

Published in:

Acta Diabetologica, 2022, v. 59, n. 5, p. 747, doi. 10.1007/s00592-021-01847-y

By:

Pezzilli, Serena;
Mazza, Tommaso;
Scarale, Maria Giovanna;
Tang, Yaling;
Andreozzi, Francesco;
Baroni, Marco Giorgio;
Buzzetti, Raffaella;
Cavallo, Maria Gisella;
Cossu, Efisio;
D'Angelo, Paola;
De Cosmo, Salvatore;
Lamacchia, Olga;
Leonetti, Frida;
Morano, Susanna;
Morviducci, Lelio;
Penno, Giuseppe;
Pozzilli, Paolo;
Pugliese, Giuseppe;
Sesti, Giorgio;
Doria, Alessandro

Publication type:

Article

Maternal Transmission of 17q12 Microdeletion: Intrafamilial Phenotypic Variability and Diagnostic Hurdles—A Case Report.

Published in:

DNA (2673-8856), 2024, v. 4, n. 4, p. 337, doi. 10.3390/dna4040023

By:

Negrisolo, Susanna;
Caridi, Gianluca;
Antoniello, Benedetta;
Benetti, Elisa

Publication type:

Article

Low-Dose Glimepiride and Metformin Fixed-Dose Combination in treating Maturity-Onset Diabetes of the Young Type (MODY): A Cross Sectional Survey.

Published in:

Clinical Diabetology, 2023, v. 12, n. 4, p. 275, doi. 10.5603/DK.a2023.0028

By:

Sharma, Balram;
Dey, Amit;
George, Joe;
Nagendra, Lakshmi;
Mittal, Sachin;
Tewari, Ajoy;
Birla, Ashish;
Prasad, Ashish;
M., Aushili

Publication type:

Article

Investigation of the Mutation Spectrum in Pediatric Patients with Maturity-Onset Diabetes of Youth (MODY): Experience from a Diagnostic Center in Türkiye.

Published in:

Clinical Diabetology, 2023, v. 12, n. 4, p. 232, doi. 10.5603/DK.a2023.0030

By:

Duzkale, Neslihan;
Emiroglu, Canan

Publication type:

Article

Functional Analysis of a Novel HNF4A Variant Identified in a Patient With MODY1.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae090

By:

Morikawa, Shuntaro;
Ko, Hui Ling;
Ren, Ee Chee;
Hara, Kazuya;
Kaneko, Naoya;
Hishimura, Nozomi;
Nakamura, Akie;
Manabe, Atsushi

Publication type:

Article

Risk Factors for Progression to Type 2 Diabetes in a Pediatric Prediabetes Clinic Population.

Published in:

Journal of the Endocrine Society, 2023, v. 7, n. 11, p. 1, doi. 10.1210/jendso/bvad118

By:

Belsky, Natasha;
Tamaroff, Jaclyn;
Shoemaker, Ashley H

Publication type:

Article

Proof-of-concept Application of Continuous Glucose Monitoring Data Analytics to Identify Diabetes Glucotypes.

Published in:

Journal of the Endocrine Society, 2023, v. 7, n. 5, p. 1, doi. 10.1210/jendso/bvad038

By:

Steenkamp, Devin W;
Cheney, Michael C;
Ju, Zhihui;
Rodbard, David;
Wolpert, Howard A

Publication type:

Article

HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac087

By:

Francis, Youmna;
Tiercelin, Clarisse;
Alexandre-Heyman, Laure;
Larger, Etienne;
Dubois-Laforgue, Danièle

Publication type:

Article

The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.89967

By:

Nakhe, Arya Y.;
Dadi, Prasanna K.;
Jinsun Kim;
Dickerson, Matthew T.;
Behera, Soma;
Dobson, Jordyn R.;
Shrestha, Shristi;
Cartailler, Jean-Philippe;
Sampson, Leesa;
Magnuson, Mark A.;
Jacobson, David A.

Publication type:

Article

Early‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2299

By:

Hoff, Fieke W.;
Xing, Chao;
Simha, Vinaya;
Agarwal, Anil K.;
Zhang, Xunzhi;
Lekkala, Leena;
Vaishnav, Madhumati S.;
Vuitch, Frank;
Garg, Abhimanyu

Publication type:

Article

ABCC8‐related maturity‐onset diabetes of the young: Clinical features and genetic analysis of one case.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 5, p. 588, doi. 10.1111/pedi.13388

By:

Zhou, Yun;
Sun, Yan;
Xu, Chao;
Liu, Fan;
Gao, Yuye;
Liu, Caihong;
Qiao, Yu;
Yang, Jianmei;
Li, Guimei

Publication type:

Article

A novel KLF11 variant in a family with maturity‐onset diabetes of the young.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 5, p. 597, doi. 10.1111/pedi.13384

By:

Wu, Shimin;
Zhang, Guijiao;
Liu, Li;
Wu, Wei;
Luo, Xiaoping

Publication type:

Article

Optimizing maturity‐onset diabetes of the young detection in a pediatric diabetes population.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 4, p. 447, doi. 10.1111/pedi.13329

By:

Menon, Sruthi;
Refaey, Ahmad;
Guffey, Danielle;
Balasubramanyam, Ashok;
Redondo, Maria J.;
Tosur, Mustafa

Publication type:

Article

Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young.

Published in:

Pediatric Diabetes, 2021, v. 22, n. 7, p. 960, doi. 10.1111/pedi.13257

By:

Tosur, Mustafa;
Soler‐Alfonso, Claudia;
Chan, Katie M.;
Khayat, Michael M.;
Jhangiani, Shalini N.;
Meng, Qingchang;
Refaey, Ahmad;
Muzny, Donna;
Gibbs, Richard A.;
Murdock, David R.;
Posey, Jennifer E.;
Balasubramanyam, Ashok;
Redondo, Maria J.;
Sabo, Aniko

Publication type:

Article

Identification of GCK‐maturity‐onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.

Published in:

Pediatric Diabetes, 2021, v. 22, n. 6, p. 876, doi. 10.1111/pedi.13239

By:

Hughes, Alice E.;
De Franco, Elisa;
Globa, Evgenia;
Zelinska, Nataliya;
Hilgard, Dörte;
Sifianou, Popi;
Hattersley, Andrew T.;
Flanagan, Sarah E.

Publication type:

Article

Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children.

Published in:

Pediatric Diabetes, 2020, v. 21, n. 3, p. 431, doi. 10.1111/pedi.12985

By:

Xu, Aijing;
Lin, Yunting;
Sheng, Huiying;
Cheng, Jing;
Mei, Huifen;
Ting, Tzer Hwu;
Zeng, Chunhua;
Liang, Cuili;
Zhang, Wen;
Li, Cuiling;
Li, Xiuzhen;
Liu, Li

Publication type:

Article

Genetic basis of early‐onset, maturity‐onset diabetes of the young‐like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Published in:

Pediatric Diabetes, 2018, v. 19, n. 7, p. 1164, doi. 10.1111/pedi.12714

By:

Yorifuji, Tohru;
Higuchi, Shinji;
Kawakita, Rie;
Hosokawa, Yuki;
Aoyama, Takane;
Murakami, Akiko;
Kawae, Yoshiko;
Hatake, Kazue;
Nagasaka, Hironori;
Tamagawa, Nobuyoshi

Publication type:

Article

Identification of appropriate biochemical parameters and cut points to detect Maturity Onset Diabetes of Young (MODY) in Asian Indians in a clinic setting.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-37766-x

By:

Aarthy, Ramasamy;
Aston-Mourney, Kathryn;
Amutha, Anandakumar;
Mikocka-Walus, Antonina;
Anjana, Ranjit Mohan;
Unnikrishnan, Ranjit;
Jebarani, Saravanan;
Venkatesan, Ulagamathesan;
Gopi, Sundaramoorthy;
Radha, Venkatesan;
Mohan, Viswanathan

Publication type:

Article

Abstracts of the 2024 Pediatric Endocrine Society (PES) Annual Meeting. Chicago, IL, May 2 – 5, 2024.

Published in:: Hormone Research in Paediatrics, 2024, v. 97, p. 4, doi. 10.1159/000541187
Publication type:: Article

青少年起病的成人型糖尿病研究进展.

Published in:

2025

By:

耿荟云;
汪治华

Publication type:

Literature Review

儿童期诊断的青少年起病的成人型糖尿病2型临床特点及基因分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 1, p. 94, doi. 10.7499/j.issn.1008-8830.2408032

By:

叶娟;
叶枫;
侯凌;
吴薇;
罗小平;
梁雁

Publication type:

Article

Actionable disease insights from bedside-to-bench investigation in fibrodysplasia ossificans progressiva.

Published in:

Journal of Bone & Mineral Research, 2024, v. 39, n. 4, p. 375, doi. 10.1093/jbmr/zjae044

By:

Wein, Marc N;
Yang, Yingzi

Publication type:

Article

Summary of Revisions: Standards of Care in Diabetes—2025.

Published in:

Diabetes Care, 2025, v. 48, p. S6, doi. 10.2337/dc25-SREV

By:

ElSayed, Nuha A.;
McCoy, Rozalina G.;
Aleppo, Grazia;
Bajaj, Mandeep;
Balapattabi, Kirthikaa;
Beverly, Elizabeth A.;
Briggs Early, Kathaleen;
Bruemmer, Dennis;
Callaghan, Brian C.;
Cusi, Kenneth;
Das, Sandeep R.;
Ebekozien, Osagie;
Echouffo-Tcheugui, Justin B.;
Eichorst, Barbara;
Ekhlaspour, Laya;
Fleming, Talya K.;
Frykberg, Robert G.;
Gaglia, Jason L.;
Galindo, Rodolfo J.;
Garg, Rajesh

Publication type:

Article

Index.

Published in:: 2025
Publication type:: Index

MODY Calculator and Clinical Features Routinely Used to Distinguish MODY From Type 2 Diabetes in Adults Perform Poorly for Youth Clinically Diagnosed With Type 2 Diabetes.

Published in:

2025

By:

Kreienkamp, Raymond J.;
Shields, Beverley M.;
Pollin, Toni I.;
Shah, Amy S.;
Liese, Angela D.;
Bellatorre, Anna;
Pihoker, Catherine;
Tosur, Mustafa;
Florez, Jose C.;
Srinivasan, Shylaja;
Hattersley, Andrew T.;
Udler, Miriam S.;
Redondo, Maria J.

Publication type:

Letter

Use of a Dual GIP/GLP-1 Receptor Agonist in HNF1A-MODY and HNF4A-MODY.

Published in:

2024

By:

Broome, David T.;
Mehdi, Alina;
Chase, Colby;
de Freitas, Maria Foss;
Gregg, Brigid E.;
Oral, Elif A.;
Herman, William H.

Publication type:

Letter

Hypoglycemic Response to Dorzagliatin in a Patient With GCK-MODY.

Published in:

Diabetes Care, 2024, v. 47, n. 7, p. 1140, doi. 10.2337/dc23-2417

By:

Yilin Zhao;
Yumin Ma;
Tianhao Ba;
Xueyao Han;
Qian Ren;
Linong Ji

Publication type:

Article

Index.

Published in:: Diabetes Care, 2024, v. 47, p. S314, doi. 10.2337/dc24-in01
Publication type:: Article

SGLT2i as a Useful Adjunctive Medication for HNF4A-MODY.

Published in:

2023

By:

Suzuki, Shigeru;
Kokumai, Takahide;
Furuya, Akiko;
Takahashi, Satoru

Publication type:

Case Study

Objective and Subjective Sleep Patterns in Adults With Maturity-Onset Diabetes of the Young (MODY).

Published in:

Diabetes Care, 2023, v. 46, n. 3, p. 608, doi. 10.2337/dc22-1343

By:

Arosemena, Marilyn;
Salguero, Maria V.;
Naylor, Rochelle N.;
Wroblewski, Kristen;
Tasali, Esra;
Philipson, Louis H.

Publication type:

Article

Index.

Published in:: Diabetes Care, 2023, v. 46, p. S285, doi. 10.2337/dc23-in01
Publication type:: Article

Efficacy and Safety of Glimepiride With or Without Linagliptin Treatment in Patients With HNF1A Diabetes (Maturity-Onset Diabetes of the Young Type 3): A Randomized, Double-Blinded, Placebo-Controlled, Crossover Trial (GLIMLINA).

Published in:

2020

By:

Christensen, Alexander S.;
Hædersdal, Sofie;
Støy, Julie;
Storgaard, Heidi;
Kampmann, Ulla;
Forman, Julie L.;
Seghieri, Marta;
Holst, Jens J.;
Hansen, Torben;
Knop, Filip K.;
Vilsbøll, Tina

Publication type:

journal article

Diabetic Nephropathy, Retinopathy, and Functional Hypogonadism in a Patient with MODY10: A Case Report.

Published in:

2024

By:

Ruiz-Urbaez, Rossana;
Villagómez-Estrada, Mariela Viviana;
Reyes-Silva, Carlos;
Quishpe-López, Darlyng;
Males-Maldonado, David;
Salazar-Vega, Jorge;
Gea-Izquierdo, Enrique

Publication type:

Case Study

Maturity-Onset Diabetes of the Young-2 (MODY2) in Youth.

Published in:

Haydarpasa Numune Medical Journal, 2024, v. 64, n. 1, p. 125, doi. 10.14744/hnhj.2022.88886

By:

Özçelik, Ayşe Gümüş;
Dayan, Akın;
Egici, Memet Taşkın

Publication type:

Article

Role of HNFA1 Gene Variants in Pancreatic Beta Cells Function and Glycaemic Control in Young Individuals with Type 1 Diabetes.

Published in:

Biomedicines, 2023, v. 11, n. 7, p. 1951, doi. 10.3390/biomedicines11071951

By:

Robino, Antonietta;
Tornese, Gianluca;
Tinti, Davide;
Dovc, Klemen;
Castorani, Valeria;
Conti, Andrea;
Franceschi, Roberto;
Rabbone, Ivana;
Bonfanti, Riccardo;
Battelino, Tadej;
Catamo, Eulalia

Publication type:

Article

Molecular Research on Genes Involved in Metabolic Diseases.

Published in:

Biomedicines, 2023, v. 11, n. 6, p. 1671, doi. 10.3390/biomedicines11061671

By:

Lara-Hernandez, Francisco;
Alvarez, Luis;
Chaves, Javier;
Garcia-Garcia, Ana-Barbara

Publication type:

Article