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1.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32817297
2.
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Hum Mol Genet
; 27(15): 2689-2702, 2018 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29771326
3.
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
Hum Mutat
; 40(1): 31-35, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30341801
4.
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
Hum Mol Genet
; 26(18): 3573-3584, 2017 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28911202
5.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Hum Mol Genet
; 26(22): 4367-4374, 2017 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28973654
6.
Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.
Hum Genet
; 138(5): 441-453, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-30904946
7.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Am J Hum Genet
; 98(5): 1011-1019, 2016 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27063057
8.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Am J Hum Genet
; 99(2): 470-80, 2016 Aug 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27486781
9.
Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision: A Swiss Prospective, Randomized, Multicenter Trial (SAKK 40/04).
Ann Surg
; 269(5): 827-835, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30252681
10.
Inflammatory Biomarkers and Clinical Judgment in the Emergency Diagnosis of Urgent Abdominal Pain.
Clin Chem
; 65(2): 302-312, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30518662
11.
Quality of Life After Total Mesorectal Excision and Rectal Replacement: Comparing Side-to-End, Colon J-Pouch and Straight Colorectal Reconstruction in a Randomized, Phase III Trial (SAKK 40/04).
Ann Surg Oncol
; 26(11): 3568-3576, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31228136
12.
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Hum Mol Genet
; 25(12): 2539-2551, 2016 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27260406
13.
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
Hum Mol Genet
; 25(5): 916-26, 2016 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26744326
14.
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(3): 279-280, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29435658
15.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(2): 111-127, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29305691
16.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26593267
17.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Brain
; 140(10): 2586-2596, 2017 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28969390
18.
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Hum Mol Genet
; 24(14): 3948-55, 2015 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25901006
19.
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Mol Vis
; 23: 198-209, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28442884
20.
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Mol Vis
; 23: 131-139, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28356705