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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]
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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]
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12. 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]
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14. 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]
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16. 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]
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]