Found: 31
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A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 451, doi. 10.1007/s00439-005-0064-2
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- Publication type:
- Article
Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation.
- Published in:
- Frontiers in Immunology, 2023, v. 13, p. 1, doi. 10.3389/fimmu.2023.1094862
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- Publication type:
- Article
Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity-onset diabetes of the young in Japanese subjects.
- Published in:
- 1998
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- Publication type:
- journal article
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
- Published in:
- 1997
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- Publication type:
- journal article
The 31-cM Region of Chromosome 11 Including the Obesity Gene Tubby and ATP-Sensitive Potassium Channel Genes, SUR1 and Kir6.2, Does Not Contain a Major Susceptibility Locus for NIDDM in 127 Non-Hispanic White Affected Sibships.
- Published in:
- Diabetes, 1997, v. 46, n. 7, p. 1227, doi. 10.2337/diab.46.7.1227
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- Publication type:
- Article
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
- Published in:
- 1997
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- Publication type:
- journal article
An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.
- Published in:
- 1996
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- Publication type:
- journal article
Hybrid Immunity Protects against Antibody Fading after SARS-CoV-2mRNA Vaccination in Kidney Transplant Recipients, Dialysis Patients, and Medical Personnel: 9 Months Data from the Prospective, Observational Dia-Vacc Study.
- Published in:
- Vaccines, 2024, v. 12, n. 7, p. 801, doi. 10.3390/vaccines12070801
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- Publication type:
- Article
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 367, doi. 10.1038/ejhg.2012.198
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- Publication type:
- Article
The diagnostic value of native kidney biopsy in low grade, subnephrotic, and nephrotic range proteinuria: A retrospective cohort study.
- Published in:
- PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0273671
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- Publication type:
- Article
Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0336-9
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- Publication type:
- Article
High-throughput sequencing of microdissected chromosomal regions.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 457, doi. 10.1038/ejhg.2009.196
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- Publication type:
- Article
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104
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- Publication type:
- Article
Hidden population substructures in an apparently homogeneous population bias association studies.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 236, doi. 10.1038/sj.ejhg.5201546
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- Publication type:
- Article
Secreted frizzled-related protein 4 predicts progression of autosomal dominant polycystic kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 2, p. 284, doi. 10.1093/ndt/gfv077
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- Publication type:
- Article
Prospective Use of Molecular Typing of Mycobacterium tuberculosis by Use of Restriction Fragment--Length Polymorphism in a Public Tuberculosis-Control Program.
- Published in:
- Clinical Infectious Diseases, 2002, v. 34, n. 5, p. 612, doi. 10.1086/338785
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- Publication type:
- Article
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger?Huët anomaly).
- Published in:
- Nature Genetics, 2002, v. 31, n. 4, p. 410, doi. 10.1038/ng925
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- Publication type:
- Article
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 163, doi. 10.1038/79876
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- Publication type:
- Article
Early Flow Disturbances of Tunnelled Haemodialysis Catheters and Topographic Landmarks in Chest X-Ray.
- Published in:
- Blood Purification, 2018, v. 46, n. 1, p. 70, doi. 10.1159/000486845
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- Publication type:
- Article
Kidney replacement and conservative therapies in rhabdomyolysis: a retrospective analysis.
- Published in:
- BMC Nephrology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12882-024-03536-8
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- Publication type:
- Article
Bendamustine and prednisone in combination with bortezomib (BPV) in the treatment of patients with relapsed or refractory multiple myeloma and light chain-induced renal failure.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2013, v. 139, n. 11, p. 1937, doi. 10.1007/s00432-013-1513-2
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- Publication type:
- Article
Successful treatment of patients with newly diagnosed/untreated multiple myeloma and advanced renal failure using bortezomib in combination with bendamustine and prednisone.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2012, v. 138, n. 8, p. 1405, doi. 10.1007/s00432-012-1212-4
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- Publication type:
- Article
Genetic aspects of diabetic nephropathy.
- Published in:
- Kidney International, 2003, v. 63, p. S186, doi. 10.1046/j.1523-1755.63.s84.24.x
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- Publication type:
- Article
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
- Published in:
- 2000
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- Publication type:
- journal article
Genetic aspects of diabetic nephropathy.
- Published in:
- Kidney International Supplement, 2003, n. 84, p. 186, doi. 10.1046/j.1523-1755.63.s84.24.x
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- Publication type:
- Article
AssociationDB: web-based exploration of genomic association.
- Published in:
- Bioinformatics, 2007, v. 23, n. 19, p. 2643, doi. 10.1093/bioinformatics/btm376
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- Publication type:
- Article
Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies.
- Published in:
- Clinical Kidney Journal, 2017, v. 10, n. 6, p. 742, doi. 10.1093/ckj/sfx053
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- Publication type:
- Article
Myocardial Infarction after Long-Term Treatment with a Tyrosine Kinase Inhibitor (TKI) with Anti-VEGF Receptor Activity.
- Published in:
- Case Reports in Endocrinology, 2019, p. 1, doi. 10.1155/2019/7927450
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- Publication type:
- Article
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2123, doi. 10.1093/brain/awq108
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- Publication type:
- Article
Diabetic Nephropathy: An Inherited Disease or Just a Diabetic Complication?
- Published in:
- Kidney & Blood Pressure Research, 2003, v. 26, n. 3, p. 143, doi. 10.1159/000071880
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- Publication type:
- Article
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1Beta.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2001, doi. 10.1093/hmg/8.11.2001
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- Publication type:
- Article