Associated Papers
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Edghill EL et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2013
Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations.
D'Amato E et al.
Pediatric Nephrology (berlin, Germany), 2008
[Molecular scanning of MODY1 gene mutations in pedigrees of early onset type 2 diabetes in Beijing].
Jia HT et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006
[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].
Zhang R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.
Wang C et al.
Acta Diabetologica, 2004
[Scanning HNF-1 alpha gene mutation in Chinese early-onset and/or multiplex diabetes pedigrees].
Fang QC et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.
Ek J et al.
Human Mutation, 2001
Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.
Weng JP et al.
Diabetologia, 2000
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