Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37815931
2.
Author Correction: Elephant shark genome provides unique insights into gnathostome evolution.
Nature
; 588(7837): E15, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33214712
3.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet
; 100(4): 659-665, 2017 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28318499
4.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet
; 101(3): 391-403, 2017 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28886341
5.
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Am J Med Genet A
; 182(9): 2010-2020, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32657013
6.
Elephant shark genome provides unique insights into gnathostome evolution.
Nature
; 505(7482): 174-9, 2014 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-24402279
7.
Lampreys, the jawless vertebrates, contain only two ParaHox gene clusters.
Proc Natl Acad Sci U S A
; 114(34): 9146-9151, 2017 08 22.
Artigo
Inglês
| MEDLINE | ID: mdl-28784804
8.
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
BMC Med Genet
; 19(1): 125, 2018 07 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30041615
9.
Cyclostomes Lack Clustered Protocadherins.
Mol Biol Evol
; 33(2): 311-5, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26545918
10.
Voltage-gated sodium channel gene repertoire of lampreys: gene duplications, tissue-specific expression and discovery of a long-lost gene.
Proc Biol Sci
; 284(1863)2017 Sep 27.
Artigo
Inglês
| MEDLINE | ID: mdl-28931746
11.
Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum).
Proc Natl Acad Sci U S A
; 110(40): 16044-9, 2013 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24043829
12.
A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu).
PLoS Genet
; 8(7): e1002798, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22807687
13.
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.
Brain Pathol
; 32(5): e13064, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35285112
14.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Nat Genet
; 54(1): 62-72, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34903892
15.
Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study.
J Clin Med
; 10(13)2021 Jun 25.
Artigo
Inglês
| MEDLINE | ID: mdl-34202351
16.
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Arch Dis Child
; 106(1): 31-37, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32819910
17.
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
J Exp Med
; 217(12)2020 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32845958
18.
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features.
Neurol Genet
; 5(4): e345, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31403081
19.
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.
Bone
; 123: 48-55, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30316000
20.
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Eur J Med Genet
; 61(10): 585-595, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29605658