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1.
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
J Am Soc Nephrol
; 34(4): 706-720, 2023 04 01.
Article
in English
| MEDLINE | ID: mdl-36753701
2.
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Int J Mol Sci
; 23(10)2022 May 18.
Article
in English
| MEDLINE | ID: mdl-35628451
3.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Hum Genet
; 140(4): 625-647, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33337535
4.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Am J Hematol
; 98(4): E72-E75, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36695705
5.
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Kidney Int
; 91(5): 1243-1255, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28233610
6.
Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.
Ophthalmic Genet
; : 1-5, 2024 Apr 08.
Article
in English
| MEDLINE | ID: mdl-38590032
7.
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Am J Hum Genet
; 86(2): 254-61, 2010 Feb 12.
Article
in English
| MEDLINE | ID: mdl-20137777
8.
Pseudo-rheumatic manifestations of limping: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Single case report and review of the literature.
Front Pediatr
; 10: 981938, 2022.
Article
in English
| MEDLINE | ID: mdl-36545657
9.
FOXG1 is responsible for the congenital variant of Rett syndrome.
Am J Hum Genet
; 83(1): 89-93, 2008 Jul.
Article
in English
| MEDLINE | ID: mdl-18571142
10.
Investigation of modifier genes within copy number variations in Rett syndrome.
J Hum Genet
; 56(7): 508-15, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21593744
11.
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
Proc Natl Acad Sci U S A
; 105(7): 2538-43, 2008 Feb 19.
Article
in English
| MEDLINE | ID: mdl-18268355
12.
The Immunomodulatory Effect and Clinical Efficacy of Daratumumab in a Patient With Cold Agglutinin Disease.
Front Immunol
; 12: 649441, 2021.
Article
in English
| MEDLINE | ID: mdl-33732266
13.
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis.
iScience
; 24(4): 102323, 2021 Apr 23.
Article
in English
| MEDLINE | ID: mdl-33889819
14.
Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol
; 15(1): 89-100, 2020 01 07.
Article
in English
| MEDLINE | ID: mdl-31831576
15.
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Nephrol Dial Transplant
; 24(5): 1464-71, 2009 May.
Article
in English
| MEDLINE | ID: mdl-19129241
16.
Italian Rett database and biobank.
Hum Mutat
; 28(4): 329-35, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17186495
17.
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Am J Med Genet A
; 143A(23): 2775-84, 2007 Dec 01.
Article
in English
| MEDLINE | ID: mdl-17968969
18.
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.
Eur J Med Genet
; 59(11): 590-595, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27659712
19.
Is complement alternative pathway disregulation involved in veno-occlusive disease of the liver?
Biol Blood Marrow Transplant
; 16(12): 1749-50, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20858549
20.
Advances in Alport syndrome diagnosis using next-generation sequencing.
Eur J Hum Genet
; 20(1): 50-7, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-21897443