Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172529
3.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
4.
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Mol Vis
; 28: 21-28, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35400991
5.
Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D.
J Biol Chem
; 293(37): 14444-14454, 2018 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054272
6.
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Am J Med Genet A
; 170(6): 1603-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26992161
7.
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.
Neurogenetics
; 16(1): 23-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25338135
8.
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.
Cells
; 9(2)2020 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012656
9.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Eur J Hum Genet
; 27(9): 1419-1426, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976113
10.
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
Sci Rep
; 9(1): 12047, 2019 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31427709
11.
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Mol Genet Genomic Med
; 7(10): e00961, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31475481
12.
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Neurology
; 84(7): 659-67, 2015 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609768
13.
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Eur J Hum Genet
; 20(6): 645-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258533
14.
Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Int J Pediatr Otorhinolaryngol
; 74(7): 825-7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20399510
15.
Semidominant inheritance in epidermolytic ichthyosis.
J Invest Dermatol
; 133(11): 2626-2628, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23604102
16.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Hum Genet
; 114(1): 68-76, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14513358