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1.
Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.
J Transl Med
; 22(1): 108, 2024 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38280995
2.
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Clin Genet
; 97(1): 209-221, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31497877
3.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am J Hum Genet
; 99(1): 236-45, 2016 Jul 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27392078
4.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
BMC Med Genet
; 20(1): 16, 2019 01 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-30642272
5.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Clin Genet
; 95(5): 607-614, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30859550
6.
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Am J Med Genet A
; 179(4): 634-638, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30737887
7.
Molecular Characterization of ß-Thalassemia Mutations in Central Vietnam.
Hemoglobin
; 41(2): 96-99, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28671035
8.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29625027
9.
Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis.
PLoS Genet
; 7(1): e1001281, 2011 Jan 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-21283782
10.
PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis.
Curr Oncol
; 30(5): 5135-5144, 2023 05 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37232846
11.
A strategy analysis for genetic association studies with known inbreeding.
BMC Genet
; 12: 63, 2011 Jul 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-21767363
12.
Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma.
Sci Rep
; 10(1): 432, 2020 01 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-31949199
13.
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
BMC Med Genet
; 10: 81, 2009 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-19715579
14.
Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate and the selection of markers for association studies.
Hum Hered
; 65(1): 9-22, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-17652959
15.
Methylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso: impact on plasma fasting homocysteine and after methionine loading test.
Clin Lab
; 53(1-2): 29-33, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-17323822
16.
A new case series of Crisponi syndrome in a Turkish family and review of the literature.
Clin Dysmorphol
; 26(2): 66-72, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27977424
17.
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family.
Indian Pediatr
; 57(11): 1075-1076, 2020 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33231180
18.
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.
Clin Dysmorphol
; 29(3): 141-143, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32433043
19.
Methylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso.
Clin Chim Acta
; 360(1-2): 199-200, 2005 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16014305
20.
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis.
PLoS One
; 4(2): e4654, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19247500