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Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 2, p. 1, doi. 10.1093/ckj/sfae026
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- Publication type:
- Article
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 5, p. 717, doi. 10.1007/s00467-010-1693-9
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- Publication type:
- Article
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
- Published in:
- 2019
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- Publication type:
- case study
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.
- Published in:
- 2015
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- Publication type:
- journal article
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 317, doi. 10.1038/ejhg.2009.181
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- Publication type:
- Article
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
- Published in:
- La Radiologia Medica, 2017, v. 122, n. 11, p. 880, doi. 10.1007/s11547-017-0784-0
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- Publication type:
- Article
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
- Published in:
- Journal of Nephrology (JNonline), 2022, v. 35, n. 2, p. 645, doi. 10.1007/s40620-021-01131-w
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- Publication type:
- Article
Chromosomal Microarray and Fetal Growth Restriction.
- Published in:
- 2017
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- Publication type:
- letter
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48014-6
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- Publication type:
- Article
Testicular Involvement is a Hallmark of Apo A-I Leu75Pro Mutation Amyloidosis.
- Published in:
- 2020
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- Publication type:
- journal article
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 6, p. 1, doi. 10.1371/journal.pgen.1002765
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- Publication type:
- Article
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations.
- Published in:
- Blood Transfusion (17232007), 2019, v. 17, n. 3, p. 247, doi. 10.2450/2018.0123-18
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- Publication type:
- Article
L'URUMODULINA MUTATA È SECRETA NELLE URINE DI PAZIENTI AFFETTI DA NEFROPATIA IPERURICEMICA FAMILIARE ED INDUCE LA FORMAZIONE DI AGGREGATI EXTRACELLULARI.
- Published in:
- Giornale Italiano di Nefrologia, 2012, v. 29, n. 2, p. 137
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- Publication type:
- Article
GENETICA E NOSOGRAFIA DELLE MALATTIE RENALI CISTICHE.
- Published in:
- Giornale Italiano di Nefrologia, 2010, v. 27, p. S63
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- Publication type:
- Article
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 687, doi. 10.1002/ajmg.b.32677
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- Publication type:
- Article
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.
- Published in:
- Kidney International, 2015, v. 87, n. 6, p. 1223, doi. 10.1038/ki.2014.389
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- Publication type:
- Article
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.
- Published in:
- Kidney International, 2014, v. 86, n. 4, p. 863, doi. 10.1038/ki.2013.445
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- Publication type:
- Article
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
- Published in:
- Kidney International, 2012, v. 81, n. 8, p. 769, doi. 10.1038/ki.2011.456
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- Publication type:
- Article
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.
- Published in:
- 2011
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- Publication type:
- journal article
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.
- Published in:
- 2011
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- Publication type:
- Case Study
Renal outcome in patients with congenital anomalies of the kidney and urinary tract.
- Published in:
- Kidney International, 2009, v. 76, n. 5, p. 528, doi. 10.1038/ki.2009.220
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- Publication type:
- Article
Mutation Spectrum in RAB 3 GAP 1, RAB 3 GAP 2, and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 686, doi. 10.1002/humu.22296
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- Publication type:
- Article
Type I hyperprolinemia: genotype/phenotype correlations.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 961, doi. 10.1002/humu.21296
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- Publication type:
- Article
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
- Published in:
- Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X
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- Publication type:
- Article
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.
- Published in:
- Skeletal Radiology, 2014, v. 43, n. 9, p. 1205, doi. 10.1007/s00256-014-1899-1
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- Publication type:
- Article
Uromodulin: from monogenic to multifactorial diseases.
- Published in:
- Nephrology Dialysis Transplantation, 2015, v. 30, n. 8, p. 1250, doi. 10.1093/ndt/gfu300
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- Publication type:
- Article
IgA nephropathy—the case for a genetic basis becomes stronger.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 2, p. 336, doi. 10.1093/ndt/gfp593
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- Publication type:
- Article
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2614, doi. 10.1002/ajmg.a.36115
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- Publication type:
- Article
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0566-x
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- Publication type:
- Article
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
- Published in:
- Scientific Reports, 2016, p. 30850, doi. 10.1038/srep30850
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- Publication type:
- Article
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
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- Publication type:
- Article