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1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35256403
2.
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.
Int J Mol Sci
; 22(15)2021 Jul 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34360843
3.
Pharmacological targeting of the novel ß-catenin chromatin-associated kinase p38α in colorectal cancer stem cell tumorspheres and organoids.
Cell Death Dis
; 12(4): 316, 2021 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33767160
4.
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.
Hum Genet
; 128(4): 373-82, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20623358
5.
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.
Am J Med Genet A
; 161A(3): 632-6, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401394
6.
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
Eur J Med Genet
; 60(7): 380-384, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28434922
7.
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.
Dig Liver Dis
; 45(7): 606-11, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23415580
8.
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
J Cell Physiol
; 209(1): 67-73, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16775838
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