Found: 24
Select item for more details and to access through your institution.
Whole gene deletion of the hepatocyte nuclear factor-1{beta} gene in a patient with the prune-belly syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 7, p. 2412, doi. 10.1093/ndt/gfn169
- By:
- Publication type:
- Article
Hepatocyte nuclear factor-1{beta} gene deletions--a common cause of renal disease.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 2, p. 627
- By:
- Publication type:
- Article
Renal cysts and diabetes due to a heterozygous HNF-1β gene deletion.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 4, p. 1271, doi. 10.1093/ndt/gfl695
- By:
- Publication type:
- Article
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 1, p. 259
- By:
- Publication type:
- Article
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults.
- Published in:
- NDT Plus, 2009, v. 2, n. 2, p. 183, doi. 10.1093/ndtplus/sfn204
- By:
- Publication type:
- Article
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 7, p. 925, doi. 10.1093/hmg/ddi086
- By:
- Publication type:
- Article
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2.
- Published in:
- Diabetes, 2009, v. 58, n. 12, p. 2954, doi. 10.2337/db09-0787
- By:
- Publication type:
- Article
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Insulin Mutation Screening in 1,044 Patients With Diabetes.
- Published in:
- Diabetes, 2008, v. 57, n. 4, p. 1034, doi. 10.2337/db07-1405
- By:
- Publication type:
- Article
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Mutations in ATP-Sensitive K[sup +] Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood.
- Published in:
- Diabetes, 2007, v. 56, n. 7, p. 1930, doi. 10.2337/db07-0043
- By:
- Publication type:
- Article
HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months.
- Published in:
- Diabetes, 2006, v. 55, n. 6, p. 1895, doi. 10.2337/db06-0094
- By:
- Publication type:
- Article
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 824, doi. 10.1038/sj.ejhg.5201629
- By:
- Publication type:
- Article
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 12, p. 1301, doi. 10.1038/ng1475
- By:
- Publication type:
- Article
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 2, n. 2, p. 183, doi. 10.1093/ndtplus/sfn204
- By:
- Publication type:
- Article
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
- Published in:
- Kidney International, 2008, v. 74, n. 8, p. 1094, doi. 10.1038/ki.2008.227
- By:
- Publication type:
- Article
Transcription factor HNF1beta and novel partners affect nephrogenesis.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Transcription factor HNF1β and novel partners affect nephrogenesis.
- Published in:
- Kidney International, 2008, v. 74, n. 2, p. 210, doi. 10.1038/ki.2008.149
- By:
- Publication type:
- Article
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 3932, doi. 10.1210/jc.2004-0568
- By:
- Publication type:
- Article
Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis.
- Published in:
- Diabetes Care, 2012, v. 35, n. 7, p. 1482, doi. 10.2337/dc11-2420
- By:
- Publication type:
- Article