Detalhe da pesquisa
1.
Long-term clonal dynamics of Enterococcus faecium strains causing bloodstream infections (1995-2015) in Spain.
J Antimicrob Chemother
; 72(1): 48-55, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27655856
2.
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
Int J Mol Sci
; 18(3)2017 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241484
3.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat
; 36(4): 454-62, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655089
4.
RAD21 mutations cause a human cohesinopathy.
Am J Hum Genet
; 90(6): 1014-27, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22633399
5.
Body composition and risk for sarcopenia in transgender women.
Nutrition
; 123: 112398, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38521048
6.
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
Mol Genet Metab
; 108(4): 232-40, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23465862
7.
Liquid Biopsy Detects Early Molecular Response and Predicts Benefit to First-Line Chemotherapy plus Cetuximab in Metastatic Colorectal Cancer: PLATFORM-B Study.
Clin Cancer Res
; 29(2): 379-388, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074154
8.
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
BMC Med Genet
; 13: 43, 2012 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22676896
9.
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Mol Biol Rep
; 39(4): 4777-85, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21952825
10.
Hepatic megalocytosis due to vanadium inhalation: participation of oxidative stress.
Toxicol Ind Health
; 28(4): 353-60, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22033424
11.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Am J Med Genet A
; 152A(4): 924-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358602
12.
Comparison of several Real-Time PCR Kits versus a Culture-dependent Algorithm to Identify Enteropathogens in Stool Samples.
Sci Rep
; 10(1): 4301, 2020 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152417
13.
Two-step ATP-driven opening of cohesin head.
Sci Rep
; 7(1): 3266, 2017 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28607419
14.
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Eur J Med Genet
; 57(9): 503-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24874887
15.
Genetic predisposition to molecular response in patients with myeloproliferative neoplasms treated with hydroxycarbamide.
Leuk Res
; 37(8): 917-21, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23597578
16.
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Eur J Med Genet
; 56(8): 411-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751782
17.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Eur J Hum Genet
; 20(3): 271-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21934712
18.
Asesoramiento genético en enfermedades con herencia mendeliana / Genetic counseling in mendelian inherited diseases
Arch. Fac. Med. Zaragoza
; 50(1): 12-15, mar. 2010. tab, ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-101961
19.
Complejo Sandifer en un paciente con Síndrome Cornelia de Lange y mutación en el gen SMC1A / Sandifer Complex in a patient with Cornelia de Lange Syndrome and mutation in the gene SMC1A
Arch. Fac. Med. Zaragoza
; 50(1): 22-24, mar. 2010. tab, ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-101963
20.
Mutaciones de Splicing / Splicing Mutations
Arch. Fac. Med. Zaragoza
; 50(1): 16-21, mar. 2010. ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-101962