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1.
Meta-Analysis of Rice Phosphoproteomics Data to Understand Variation in Cell Signaling Across the Rice Pan-Genome.
J Proteome Res
; 2024 May 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38810119
2.
TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Am J Med Genet A
; : e63716, 2024 Jun 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38847211
3.
Hyperbaric oxygen therapy in malignant otitis externa: a retrospective analysis.
Eur Arch Otorhinolaryngol
; 2024 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38767696
4.
Assessing Multiple Evidence Streams to Decide on Confidence for Identification of Post-Translational Modifications, within and Across Data Sets.
J Proteome Res
; 22(6): 1828-1842, 2023 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37099386
5.
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
Mol Vis
; 29: 31-38, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37287646
6.
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
Graefes Arch Clin Exp Ophthalmol
; 261(2): 353-365, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-35947183
7.
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Int Ophthalmol
; 43(10): 3659-3665, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37542530
8.
A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.
Int Ophthalmol
; 43(3): 807-815, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36048286
9.
Method for Independent Estimation of the False Localization Rate for Phosphoproteomics.
J Proteome Res
; 21(7): 1603-1615, 2022 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35640880
10.
An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia.
Blood
; 135(26): 2337-2353, 2020 06 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32157296
11.
AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up.
Retina
; 42(5): 981-991, 2022 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35125479
12.
Changes in Biomarkers of Exposure on Switching From a Conventional Cigarette to the glo Tobacco Heating Product: A Randomized, Controlled Ambulatory Study.
Nicotine Tob Res
; 23(3): 584-591, 2021 02 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-32776101
13.
Estimating the Population Health Impact of Recently Introduced Modified Risk Tobacco Products: A Comparison of Different Approaches.
Nicotine Tob Res
; 23(3): 426-437, 2021 02 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-32496514
14.
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.
Mol Vis
; 26: 345-354, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32368002
15.
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.
Am J Med Genet A
; 182(11): 2773-2777, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32902915
16.
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Am J Med Genet A
; 182(5): 1223-1229, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32022998
17.
Results from a 2018 cross-sectional survey in Tokyo, Osaka and Sendai to assess tobacco and nicotine product usage after the introduction of heated tobacco products (HTPs) in Japan.
Harm Reduct J
; 17(1): 32, 2020 05 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32450856
18.
Changes in Biomarkers of Exposure on Switching From a Conventional Cigarette to Tobacco Heating Products: A Randomized, Controlled Study in Healthy Japanese Subjects.
Nicotine Tob Res
; 21(9): 1220-1227, 2019 08 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-29912406
19.
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
J Hum Genet
; 63(11): 1169-1180, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30181649
20.
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
Mol Vis
; 24: 105-114, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29422768