BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 36969268)

  • 1. Review of neurodevelopmental disorders in patients with HNF1B gene variations.
    Nittel CM; Dobelke F; König J; Konrad M; Becker K; Kamp-Becker I; Weber S;
    Front Pediatr; 2023; 11():1149875. PubMed ID: 36969268
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
    Clissold RL; Shaw-Smith C; Turnpenny P; Bunce B; Bockenhauer D; Kerecuk L; Waller S; Bowman P; Ford T; Ellard S; Hattersley AT; Bingham C
    Kidney Int; 2016 Jul; 90(1):203-11. PubMed ID: 27234567
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.
    Clissold RL; Ashfield B; Burrage J; Hannon E; Bingham C; Mill J; Hattersley A; Dempster EL
    Clin Epigenetics; 2018 Jul; 10(1):97. PubMed ID: 30021660
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hypertriglyceridemia as a main feature associated with 17q12 deletion syndrome-related hepatocyte nuclear factor 1β-maturity-onset diabetes of the young.
    Thewjitcharoen Y; Nakasatien S; Tsoi TF; Lim CKP; Himathongkam T; Chan JCN
    Endocrinol Diabetes Metab Case Rep; 2022 Sep; 2022():. PubMed ID: 36106561
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
    Vasileiou G; Hoyer J; Thiel CT; Schaefer J; Zapke M; Krumbiegel M; Kraus C; Zweier M; Uebe S; Ekici AB; Schneider M; Wiesener M; Rauch A; Faschingbauer F; Reis A; Zweier C; Popp B
    Prenat Diagn; 2019 Nov; 39(12):1136-1147. PubMed ID: 31498910
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the
    Cleper R; Reches A; Shapira D; Simchoni S; Reisman L; Ben-Sira L; Yaron Y; Wolman I; Malinger G; Brabbing-Goldstein D; Ben-Shachar S
    Transl Pediatr; 2021 Dec; 10(12):3130-3139. PubMed ID: 35070826
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.
    Quintero-Rivera F; Woo JS; Bomberg EM; Wallace WD; Peredo J; Dipple KM
    Am J Med Genet A; 2014 Dec; 164A(12):3076-82. PubMed ID: 25256560
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease.
    Nakamura M; Kanda S; Kajiho Y; Morisada N; Iijima K; Harita Y
    CEN Case Rep; 2021 Nov; 10(4):543-548. PubMed ID: 33942272
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.
    George AM; Love DR; Hayes I; Tsang B
    Mol Syndromol; 2012 Jan; 2(2):72-75. PubMed ID: 22511894
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Utilization of the Maternal and Child Health Handbook in Early Identification of Autism Spectrum Disorder and Other Neurodevelopmental Disorders.
    Hirota T; Bishop S; Adachi M; Shui A; Takahashi M; Mori H; Nakamura K
    Autism Res; 2021 Mar; 14(3):551-559. PubMed ID: 33251760
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
    Moreno-De-Luca D; ; Mulle JG; ; Kaminsky EB; Sanders SJ; ; Myers SM; Adam MP; Pakula AT; Eisenhauer NJ; Uhas K; Weik L; Guy L; Care ME; Morel CF; Boni C; Salbert BA; Chandrareddy A; Demmer LA; Chow EW; Surti U; Aradhya S; Pickering DL; Golden DM; Sanger WG; Aston E; Brothman AR; Gliem TJ; Thorland EC; Ackley T; Iyer R; Huang S; Barber JC; Crolla JA; Warren ST; Martin CL; Ledbetter DH
    Am J Hum Genet; 2010 Nov; 87(5):618-30. PubMed ID: 21055719
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. HNF1B deletions in patients with young-onset diabetes but no known renal disease.
    Edghill EL; Stals K; Oram RA; Shepherd MH; Hattersley AT; Ellard S
    Diabet Med; 2013 Jan; 30(1):114-7. PubMed ID: 22587559
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
    Izzi C; Dordoni C; Econimo L; Delbarba E; Grati FR; Martin E; Mazza C; Savoldi G; Rampoldi L; Alberici F; Scolari F
    Kidney Int Rep; 2020 Dec; 5(12):2341-2350. PubMed ID: 33305128
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.
    Palumbo P; Antona V; Palumbo O; Piccione M; Nardello R; Fontana A; Carella M; Corsello G
    Gene; 2014 Apr; 538(2):373-8. PubMed ID: 24487052
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (
    Dubois-Laforgue D; Cornu E; Saint-Martin C; Coste J; Bellanné-Chantelot C; Timsit J;
    Diabetes Care; 2017 Nov; 40(11):1436-1443. PubMed ID: 28420700
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.
    Alvelos MI; Rodrigues M; Lobo L; Medeira A; Sousa AB; Simão C; Lemos MC
    Medicine (Baltimore); 2015 Feb; 94(7):e469. PubMed ID: 25700310
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.