Detalhe da pesquisa
1.
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.
Medicina (Kaunas)
; 58(8)2022 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013579
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337535
3.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
4.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Hum Mutat
; 40(2): 193-200, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412329
5.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276538
6.
SLMSuite: a suite of algorithms for segmenting genomic profiles.
BMC Bioinformatics
; 18(1): 321, 2017 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28659129
7.
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Kidney Int
; 91(5): 1243-1255, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28233610
8.
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis.
Nephrol Dial Transplant
; 31(9): 1541-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27325253
9.
Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.
J Am Soc Nephrol
; 26(8): 1961-74, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25568173
10.
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.
J Am Soc Nephrol
; 26(1): 230-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060053
11.
Disseminated Mycobacterium xenopi in an Adult with IL-12Rß1 Deficiency.
J Clin Immunol
; 40(8): 1166-1170, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856198
12.
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.
Prenat Diagn
; 40(7): 905-908, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277492
13.
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy).
Microbiol Spectr
; 11(3): e0437422, 2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071008
14.
Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.
Genes (Basel)
; 13(4)2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456430
15.
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
J Clin Med
; 11(14)2022 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887945
16.
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
Front Immunol
; 13: 840767, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35572607
17.
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.
Front Immunol
; 13: 891147, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35514995
18.
STOP Pain Project-Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways.
Pharmaceutics
; 14(3)2022 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35335997
19.
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis.
Br J Haematol
; 173(6): 938-40, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26303809
20.
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.
Diagnostics (Basel)
; 11(10)2021 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34679599