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Page 1
The individual and global impact of copy-number variants on complex human traits.
Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team; Porcu E, Reymond A, Kutalik Z. Auwerx C, et al. Am J Hum Genet. 2022 Apr 7;109(4):647-668. doi: 10.1016/j.ajhg.2022.02.010. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240056 Free PMC article.
Other signals overlapped Mendelian disorder regions, suggesting variable expressivity and broad impact of these loci, as illustrated by signals mapping to Rotor syndrome (SLCO1B1/3), renal cysts and diabetes syndrome (HNF1B), or Charcot-Marie-To …
Other signals overlapped Mendelian disorder regions, suggesting variable expressivity and broad impact of these loci, as illustrated by sign …
Blood pressure in children with renal cysts and diabetes syndrome.
Seeman T, Weigel F, Blahova K, Fencl F, Pruhova S, Hermes K, Klaus R, Lange-Sperandio B, Grote V, John-Kroegel U. Seeman T, et al. Eur J Pediatr. 2021 Dec;180(12):3599-3603. doi: 10.1007/s00431-021-04165-1. Epub 2021 Jun 26. Eur J Pediatr. 2021. PMID: 34176013
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P. Ricci P, et al. Sci Rep. 2019 Feb 18;9(1):2225. doi: 10.1038/s41598-019-38713-5. Sci Rep. 2019. PMID: 30778115 Free PMC article.
Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. ...
Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF …
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.
Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM. Chen YZ, et al. Chin Med J (Engl). 2010 Nov;123(22):3326-33. Chin Med J (Engl). 2010. PMID: 21163139 Review.
OBJECTIVE: There is a paucity of published works that systematically evaluate gene anomalies or clinical features of patients with renal cysts and diabetes syndrome (RCAD)/maturity onset diabetes of the young type 5 (MODY5). ...
OBJECTIVE: There is a paucity of published works that systematically evaluate gene anomalies or clinical features of patients with renal …
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. Nagano C, et al. Clin Exp Nephrol. 2019 Sep;23(9):1119-1129. doi: 10.1007/s10157-019-01747-0. Epub 2019 May 27. Clin Exp Nephrol. 2019. PMID: 31131422
BACKGROUND: Hepatocyte nuclear factor 1beta (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-li …
BACKGROUND: Hepatocyte nuclear factor 1beta (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes …
Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.
Shi P, Hou Y, Chen D, Ren H, Xia Y, Kong X. Shi P, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2089. doi: 10.1002/mgg3.2089. Epub 2022 Nov 18. Mol Genet Genomic Med. 2023. PMID: 36398477 Free PMC article.
Besides, 18 microdeletion/microduplication syndromes were detected, with the highest rate of renal cysts and diabetes syndrome (22%, 4/18). Also, the rate of termination of pregnancy in MU group was much higher than that in the SU group (29% vs. …
Besides, 18 microdeletion/microduplication syndromes were detected, with the highest rate of renal cysts and diabete …
Who should have genetic testing for maturity-onset diabetes of the young?
Naylor R, Philipson LH. Naylor R, et al. Clin Endocrinol (Oxf). 2011 Oct;75(4):422-6. doi: 10.1111/j.1365-2265.2011.04049.x. Clin Endocrinol (Oxf). 2011. PMID: 21521318
HNF1B mutations most frequently cause developmental renal disease (particularly renal cysts) but may also cause MODY in isolation or may cause the renal cysts and diabetes syndrome (RCAD syndrome). Mutations in NEUROD1, PDX1 (IPF1), CEL and INS …
HNF1B mutations most frequently cause developmental renal disease (particularly renal cysts) but may also cause MODY in isolation or may cau …
Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.
Poitou C, Francois H, Bellanne-Chantelot C, Noel C, Jacquet A, Clauin S, Beaudreuil S, Damieri H, Hebibi H, Hammoudi Y, Benoit G, Charpentier B, Durrbach A. Poitou C, et al. Transpl Int. 2012 May;25(5):564-72. doi: 10.1111/j.1432-2277.2012.01458.x. Epub 2012 Mar 21. Transpl Int. 2012. PMID: 22432796 Free article.
17 results