Detalhe da pesquisa
1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38772379
2.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36130591
3.
Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.
Genes Immun
; 2024 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38472338
4.
Early histological transformation of follicular lymphoma to diffuse large B-cell lymphoma indicating adverse survival: A population-based analysis and validation.
Cancer
; 2024 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38809573
5.
Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Am J Med Genet A
; 194(2): 211-217, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37795572
6.
Real-world glycated haemoglobin changes among type 2 diabetes mellitus patients treated with a maintenance dose of 7 mg or 14 mg of oral semaglutide.
Diabetes Obes Metab
; 26(6): 2111-2118, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38418411
7.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36446582
8.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32721402
9.
Early progression in follicular lymphoma in the absence of histological transformation or high-risk Follicular Lymphoma International Prognostic Index still has a favourable outcome.
Br J Haematol
; 200(3): 306-314, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36261137
10.
ZDHHC15 as a candidate gene for autism spectrum disorder.
Am J Med Genet A
; 191(4): 941-947, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36565021
11.
Aquaporin-4 Expression Switches from White to Gray Matter Regions during Postnatal Development of the Central Nervous System.
Int J Mol Sci
; 24(3)2023 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36769371
12.
Over-The-Scope clip closure of an acquired bronchoesophageal fistula secondary to an esophageal diverticulum.
Rev Esp Enferm Dig
; 115(5): 272-273, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36148689
13.
Ulcerative colitis induced by obinutuzumab in a patient treated for a folicular lymphoma.
Rev Esp Enferm Dig
; 2023 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37882200
14.
PhenoExam: gene set analyses through integration of different phenotype databases.
BMC Bioinformatics
; 23(1): 567, 2022 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-36587217
15.
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
Neurocase
; 28(1): 11-18, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35253627
16.
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly.
Proc Natl Acad Sci U S A
; 116(39): 19717-19726, 2019 09 24.
Artigo
Inglês
| MEDLINE | ID: mdl-31451636
17.
Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
Br J Haematol
; 194(4): 708-717, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34296432
18.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Clin Genet
; 100(4): 405-411, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34196401
19.
Drying dynamics of meat highlighting areas of relevance to dry-aging of beef.
Compr Rev Food Sci Food Saf
; 20(6): 5370-5392, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34601801
20.
Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia.
Br J Haematol
; 188(5): 605-622, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31621063