BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 35899569)

  • 1. A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.
    Aydın C; Kıral E; Susam E; Tufan AK; Yarar C; Çetin N; Kocagil S; Kırel B
    Turk J Pediatr; 2022; 64(3):558-565. PubMed ID: 35899569
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome.
    Cheng Y; Zhong DP; Ren L; Yang H; Tian CF
    BMC Endocr Disord; 2022 Mar; 22(1):77. PubMed ID: 35346144
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.
    Roehlen N; Hilger H; Stock F; Gläser B; Guhl J; Schmitt-Graeff A; Seufert J; Laubner K
    J Clin Endocrinol Metab; 2018 Oct; 103(10):3601-3610. PubMed ID: 30032214
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.
    Laffargue F; Bourthoumieu S; Llanas B; Baudouin V; Lahoche A; Morin D; Bessenay L; De Parscau L; Cloarec S; Delrue MA; Taupiac E; Dizier E; Laroche C; Bahans C; Yardin C; Lacombe D; Guigonis V
    Arch Dis Child; 2015 Mar; 100(3):259-64. PubMed ID: 25324567
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical characteristics of HNF1B-related disorders in a Japanese population.
    Nagano C; Morisada N; Nozu K; Kamei K; Tanaka R; Kanda S; Shiona S; Araki Y; Ohara S; Matsumura C; Kasahara K; Mori Y; Seo A; Miura K; Washiyama M; Sugimoto K; Harada R; Tazoe S; Kourakata H; Enseki M; Aotani D; Yamada T; Sakakibara N; Yamamura T; Minamikawa S; Ishikura K; Ito S; Hattori M; Iijima K
    Clin Exp Nephrol; 2019 Sep; 23(9):1119-1129. PubMed ID: 31131422
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome.
    Yaşar Köstek H; Özgüç Çömlek F; Gürkan H; Özkayın EN; Tütüncüler Kökenli F
    J Clin Res Pediatr Endocrinol; 2024 May; 16(2):205-210. PubMed ID: 36511482
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene.
    Kuwabara-Ohmura Y; Iizuka K; Liu Y; Takao K; Nonomura K; Kato T; Mizuno M; Hosomichi K; Tajima A; Miyazaki T; Horikawa Y; Yabe D
    Endocr J; 2020 Sep; 67(9):981-988. PubMed ID: 32461507
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.
    Tao T; Yang Y; Hu Z
    Medicine (Baltimore); 2020 Jul; 99(31):e21438. PubMed ID: 32756155
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of HNF1B based on 17q12 microdeletion.
    Omura Y; Yagi K; Honoki H; Iwata M; Enkaku A; Takikawa A; Kuwano T; Watanabe Y; Nishimura A; Liu J; Chujo D; Fujisaka S; Enya M; Horikawa Y; Tobe K
    Endocr J; 2019 Dec; 66(12):1113-1116. PubMed ID: 31391355
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.
    Chen CP; Chang SD; Wang TH; Wang LK; Tsai JD; Liu YP; Chern SR; Wu PS; Su JW; Chen YT; Wang W
    Taiwan J Obstet Gynecol; 2013 Dec; 52(4):551-7. PubMed ID: 24411042
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis.
    Ge S; Yang M; Gong W; Chen W; Dong J; Liao L
    Front Endocrinol (Lausanne); 2022; 13():917819. PubMed ID: 35992134
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
    van der Made CI; Hoorn EJ; de la Faille R; Karaaslan H; Knoers NV; Hoenderop JG; Vargas Poussou R; de Baaij JH
    Am J Nephrol; 2015; 42(1):85-90. PubMed ID: 26340261
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case Report: Diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome with diabetic gastroparesis.
    Xin S; Zhang X
    Front Endocrinol (Lausanne); 2023; 14():1205431. PubMed ID: 38033996
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
    Quilichini E; Fabre M; Nord C; Dirami T; Le Marec A; Cereghini S; Pasek RC; Gannon M; Ahlgren U; Haumaitre C
    J Pathol; 2021 May; 254(1):31-45. PubMed ID: 33527355
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
    Ge S; Yang M; Cui Y; Wu J; Xu L; Dong J; Liao L
    Front Endocrinol (Lausanne); 2022; 13():911526. PubMed ID: 35846334
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.
    Kotalova R; Dusatkova P; Cinek O; Dusatkova L; Dedic T; Seeman T; Lebl J; Pruhova S
    World J Gastroenterol; 2015 Feb; 21(8):2550-7. PubMed ID: 25741167
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
    Kato T; Tanaka D; Muro S; Jambaljav B; Mori E; Yonemitsu S; Oki S; Inagaki N
    Intern Med; 2018 Jul; 57(14):2035-2039. PubMed ID: 29491316
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.
    Ohara Y; Okada Y; Yamada T; Sugawara K; Kanatani M; Fukuoka H; Hirota Y; Maeda T; Morisada N; Iijima K; Ogawa W
    J Diabetes Investig; 2019 Jul; 10(4):1112-1115. PubMed ID: 30637974
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
    Niborski LL; Paces-Fessy M; Ricci P; Bourgeois A; Magalhães P; Kuzma-Kuzniarska M; Lesaulnier C; Reczko M; Declercq E; Zürbig P; Doucet A; Umbhauer M; Cereghini S
    Dis Model Mech; 2021 May; 14(5):. PubMed ID: 33737325
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.