Detalhe da pesquisa
1.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
2.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554502
3.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Genet Med
; 24(8): 1708-1721, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583550
4.
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum Mutat
; 42(4): 460-472, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600046
5.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
6.
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Am J Med Genet A
; 185(1): 90-96, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048476
7.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat
; 41(3): 591-599, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821646
8.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
9.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
10.
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Clin Genet
; 98(1): 32-42, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279305
11.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann Neurol
; 86(3): 368-383, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31298765
12.
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling.
J Transl Med
; 17(1): 205, 2019 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217010
13.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum Mutat
; 39(9): 1284-1298, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29858556
14.
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Ann Neurol
; 82(4): 562-577, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28892560
15.
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum Mutat
; 38(11): 1534-1541, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714244
16.
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
J Hum Genet
; 62(4): 497-501, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974811
17.
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.
Biol Chem
; 397(8): 791-801, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27021259
18.
Deciphering the genetic basis of microcystin tolerance.
BMC Genomics
; 15: 776, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25199885
19.
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
Neurobiol Dis
; 67: 88-96, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24561070
20.
Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome.
J Virol
; 86(5): 2787-96, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190723