Detalhe da pesquisa
1.
A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Am J Med Genet A;
188(4): 1299-1306, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34970864
2.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med;
22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32451403
3.
The genomic and clinical landscape of fetal akinesia.
Genet Med;
22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31680123
4.
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum Mol Genet;
26(20): 4055-4066, 2017 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29016863
5.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet;
99(5): 1206-1216, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27843126
6.
Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.
Mol Cell Probes;
45: 89-93, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30885829
7.
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
8.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet;
24(9): 2594-603, 2015 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25616960
9.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A;
173(8): 2132-2138, 2017 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28574232
10.
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Cell Mol Life Sci;
73(10): 2089-104, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26573968
11.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat;
37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26593283
12.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat;
37(7): 703-9, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27071356
13.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet;
93(1): 181-90, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23830518
14.
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
Neuropediatrics;
47(4): 273-7, 2016 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27214504
15.
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Hum Mol Genet;
22(2): 398-407, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23077215
16.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat;
35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25044745
17.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet;
99(6): 1406-1408, 2016 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27912047
18.
Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.
Clin Transl Immunology;
13(2): e1493, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38410820
19.
PRUNE1: a disease-causing gene for secondary microcephaly.
Brain;
140(10): e61, 2017 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28969376
20.
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Brain Commun;
5(1): fcad017, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36793789