Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.
Daggag H et al.
Metabolism Open, 2022
Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.
Narikot A et al.
Bmc Nephrology, 2022
34979951 (PubMed )
Supplement: 12882_2021_2628_MOESM2_ESM.xlsx › Table_S4
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S et al.
Kidney International, 2011
Analysis of the coding genome of diffuse large B-cell lymphoma.
Pasqualucci L et al.
Nature Genetics, 2011
21804550 (PubMed )
Supplement: NIHMS308546-supplement-1.pdf
Renal malformations associated with mutations of developmental genes: messages from the clinic.
Adalat S et al.
Pediatric Nephrology (berlin, Germany), 2010
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Adalat S et al.
Journal of the American Society of Nephrology : Jasn, 2009
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
Neonatal cholestasis.
Arora NK
Tropical Gastroenterology : Official Journal of the Digestive Diseases Foundation, 0
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