Detalhe da pesquisa
1.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
2.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
3.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet
; 104(4): 731-737, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905400
4.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
5.
Genome wide analysis of 3' UTR sequence elements and proteins regulating mRNA stability during maternal-to-zygotic transition in zebrafish.
Genome Res
; 29(7): 1100-1114, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227602
6.
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(2): 296-304, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032983
7.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293671
8.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823706
9.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965847
10.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Genet Med
; 22(6): 1040-1050, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103185
11.
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Brain
; 142(10): 2965-2978, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31412107
12.
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Hum Mol Genet
; 26(2): 258-269, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013290
13.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Am J Hum Genet
; 99(4): 912-916, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616480
14.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(1): 228-35, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392077
15.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
16.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
17.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet
; 55(1): 48-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28626029
18.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
J Med Genet
; 54(6): 399-403, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280135
19.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
J Med Genet
; 53(9): 608-15, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208211
20.
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Am J Med Genet A
; 170A(4): 992-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27001912