Search details
1.
Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes.
Nature
; 554(7690): 62-68, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29364867
2.
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
Br J Cancer
; 128(5): 857-876, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36550207
3.
CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice.
Proc Natl Acad Sci U S A
; 112(45): 13982-7, 2015 Nov 10.
Article
in English
| MEDLINE | ID: mdl-26508638
4.
Telomerase reactivation reverses tissue degeneration in aged telomerase-deficient mice.
Nature
; 469(7328): 102-6, 2011 Jan 06.
Article
in English
| MEDLINE | ID: mdl-21113150
5.
Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.
EMBO J
; 30(11): 2219-32, 2011 Jun 01.
Article
in English
| MEDLINE | ID: mdl-21522133
6.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Am J Hum Genet
; 88(5): 650-6, 2011 May 13.
Article
in English
| MEDLINE | ID: mdl-21549337
7.
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
J Med Genet
; 50(8): 552-63, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23709753
8.
Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data.
J Mol Diagn
; 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38851388
9.
eEF1A2 promotes PTEN-GSK3ß-SCF complex-dependent degradation of Aurora kinase A and is inactivated in breast cancer.
Sci Signal
; 17(826): eadh4475, 2024 Mar 05.
Article
in English
| MEDLINE | ID: mdl-38442201
10.
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.
Nat Genet
; 31(1): 94-9, 2002 May.
Article
in English
| MEDLINE | ID: mdl-11923874
11.
In vivo interrogation of regulatory genomes reveals extensive quasi-insufficiency in cancer evolution.
Cell Genom
; 3(3): 100276, 2023 Mar 08.
Article
in English
| MEDLINE | ID: mdl-36950387
12.
Genomic instability in laminopathy-based premature aging.
Nat Med
; 11(7): 780-5, 2005 Jul.
Article
in English
| MEDLINE | ID: mdl-15980864
13.
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.
Otol Neurotol
; 43(10): 1125-1136, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36190904
14.
CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.
Otolaryngol Head Neck Surg
; 166(1): 74-79, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33940977
15.
Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
Am J Med Genet A
; 155A(11): 2617-25, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21932319
16.
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.
Nature
; 437(7058): 564-8, 2005 Sep 22.
Article
in English
| MEDLINE | ID: mdl-16079796
17.
Premature aging in mice activates a systemic metabolic response involving autophagy induction.
Hum Mol Genet
; 17(14): 2196-211, 2008 Jul 15.
Article
in English
| MEDLINE | ID: mdl-18443001
18.
Radixin modulates the function of outer hair cell stereocilia.
Commun Biol
; 3(1): 792, 2020 12 23.
Article
in English
| MEDLINE | ID: mdl-33361775
19.
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit. / Utilidad clínica de la secuenciación de nueva generación en el diagnóstico etiológico de la hipoacusia neurosensorial en una Unidad de Hipoacusia Infantil.
Acta Otorrinolaringol Esp (Engl Ed)
; 71(3): 166-174, 2020.
Article
in English, Spanish
| MEDLINE | ID: mdl-31706454
20.
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Acta Ophthalmol
; 98(8): e1034-e1048, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32483926