Detalhe da pesquisa
1.
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Clin Genet
; 106(1): 47-55, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378010
2.
Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP).
Mov Disord
; 37(4): 799-811, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967053
3.
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Mol Psychiatry
; 26(6): 1980-1995, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32249816
4.
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Hum Mol Genet
; 28(6): 1007-1022, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481304
5.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
6.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Mol Cell
; 48(4): 641-6, 2012 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063529
7.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum Genet
; 138(6): 593-600, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982135
8.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Am J Hum Genet
; 98(4): 755-62, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018475
9.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Gastroenterology
; 154(1): 181-194.e20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28912018
10.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Genome Res
; 26(2): 183-91, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26755636
11.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Genet Med
; 21(8): 1832-1841, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675029
12.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
13.
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.
PLoS Genet
; 12(3): e1005914, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968009
14.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Hum Mutat
; 39(9): 1246-1261, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29924900
15.
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
Ann Hum Genet
; 82(4): 232-238, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29430627
16.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(2): 155-66, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561519
17.
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.
Int J Obes (Lond)
; 42(9): 1602-1609, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29568105
18.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
19.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med
; 20(10): 1175-1185, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469822
20.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
J Neurol Neurosurg Psychiatry
; 89(8): 817-827, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650794