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Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1270, doi. 10.3390/ijms25021270
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- Article
Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite.
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- Kidney & Blood Pressure Research, 2024, v. 49, n. 1, p. 239, doi. 10.1159/000537699
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- Article
A novel role for the chloride intracellular channel protein Clic5 in ciliary function.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44235-y
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- Article
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02954-5
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- Article
PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 11, p. 1, doi. 10.1007/s00018-023-04994-3
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- Article
A novel role for the chloride intracellular channel protein Clic5 in ciliary function.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44235-y
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- Publication type:
- Article
A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.
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- Liver International, 2023, v. 43, n. 2, p. 401, doi. 10.1111/liv.15493
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- Article
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 12, p. 2496, doi. 10.1093/ndt/gfac006
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- Article
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
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- Pediatric Nephrology, 2022, v. 37, n. 11, p. 2657, doi. 10.1007/s00467-022-05441-4
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- Article
Hyperinsulinemic Hypoglycemia Associated with a Ca V 1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8097, doi. 10.3390/ijms23158097
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- Article
ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2295, doi. 10.1093/hmg/ddac027
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- Article
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
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- Annals of Human Genetics, 2022, v. 86, n. 3, p. 145, doi. 10.1111/ahg.12454
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- Article
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.
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- 2022
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- journal article
The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.
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- Pediatric Nephrology, 2022, v. 37, n. 3, p. 473, doi. 10.1007/s00467-021-04974-4
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- Article
Correction to: The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.
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- Pediatric Nephrology, 2022, v. 37, n. 3, p. 687, doi. 10.1007/s00467-021-05207-4
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- Article
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 239, doi. 10.1093/ndt/gfab218
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- Publication type:
- Article
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial.
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- Clinical Genetics, 2021, v. 99, n. 1, p. 143, doi. 10.1111/cge.13861
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- Article
Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.
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- Clinical Endocrinology, 2020, v. 93, n. 3, p. 346, doi. 10.1111/cen.14267
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- Article
Anhydramnios, but prenatally normal kidneys: renal tubular dysgenesis – patient with mutations in the renin-angiotensin system gene AGTR1.
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- Case Reports in Perinatal Medicine, 2020, v. 9, n. 1, p. N.PAG, doi. 10.1515/crpm-2019-0045
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- Article
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
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- Urolithiasis, 2019, v. 47, n. 6, p. 511, doi. 10.1007/s00240-019-01116-2
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- Article
Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation.
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- 2019
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- Publication type:
- journal article
Management of bone disease in cystinosis: Statement from an international conference.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1019, doi. 10.1002/jimd.12134
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- Publication type:
- Article
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome.
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- European Journal of Endocrinology, 2019, v. 181, n. 2, p. 121, doi. 10.1530/EJE-19-0119
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- Publication type:
- Article
HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
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- Pediatric Nephrology, 2019, v. 34, n. 6, p. 1065, doi. 10.1007/s00467-018-4188-8
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- Article
Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
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- Molecular Vision, 2019, v. 25, p. 851
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- Article
A 4-YEAR-OLD BOY WITH BECKWITH WIEDEMANN SYNDROME (BWS).
- Published in:
- Contributions / Prilozi (1857-9345), 2018, v. 39, n. 2/3, p. 131, doi. 10.2478/prilozi-2018-0052
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- Publication type:
- Article
Erbliche Zystennierenerkrankungen: Autosomal-dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD).
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- Medizinische Genetik, 2018, v. 30, n. 4, p. 422, doi. 10.1007/s11825-018-0224-0
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- Article
Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series.
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- Clinical Kidney Journal, 2018, v. 11, n. 4, p. 479, doi. 10.1093/ckj/sfy006
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- Article
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
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- Pediatric Nephrology, 2018, v. 33, n. 7, p. 1269, doi. 10.1007/s00467-018-3961-z
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- Article
Expanding the phenotype associated with biallelic <italic>WDR60</italic> mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 438, doi. 10.1002/ajmg.a.38562
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- Article
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 450, doi. 10.1002/ajmg.a.38570
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- Article
Treating C3 glomerulopathy with eculizumab.
- Published in:
- 2018
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- Publication type:
- journal article
Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.
- Published in:
- JAMA Pediatrics, 2018, v. 172, n. 1, p. 74, doi. 10.1001/jamapediatrics.2017.3938
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- 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.
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- Clinical Kidney Journal, 2017, v. 10, n. 6, p. 742, doi. 10.1093/ckj/sfx053
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- Article
Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.
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- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185779
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- Article
Advances in renal genetic diagnosis.
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- Cell & Tissue Research, 2017, v. 369, n. 1, p. 93, doi. 10.1007/s00441-017-2636-6
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- Article
Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism.
- Published in:
- 2017
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- Publication type:
- journal article
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
- Published in:
- 2017
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- Publication type:
- journal 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
Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 7, p. 1114, doi. 10.1093/ndt/gfw078
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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- Article
A complicated case of atypical hemolytic uremic syndrome with frequent relapses under eculizumab.
- Published in:
- 2015
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- Publication type:
- Report
Tectonic gene mutations in patients with Joubert syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 616, doi. 10.1038/ejhg.2014.160
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- Article
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
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- BMC Nephrology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12882-015-0002-z
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- Publication type:
- Article
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0238-5
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- Publication type:
- Article
An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116680
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- Publication type:
- Article
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
- Published in:
- 2015
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- Publication type:
- journal article
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 1, p. 15, doi. 10.1007/s00467-013-2706-2
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- Publication type:
- Article
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
- Published in:
- 2014
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- Publication type:
- Report