Detalhe da pesquisa
1.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO J;
37(11)2018 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29764981
2.
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
Hum Mol Genet;
28(20): 3466-3474, 2019 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31504499
3.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genet Med;
23(9): 1636-1647, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34145395
4.
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Hum Mol Genet;
27(24): 4218-4230, 2018 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30189017
5.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Hum Mol Genet;
27(11): 1927-1940, 2018 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29635513
6.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genet;
13(1): e1006470, 2017 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28081210
7.
Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?
Cleft Palate Craniofac J;
57(4): 514-519, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31607140
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.
Enrichment of Clinically Relevant Organisms in Spontaneous Preterm-Delivered Placentas and Reagent Contamination across All Clinical Groups in a Large Pregnancy Cohort in the United Kingdom.
Appl Environ Microbiol;
84(14)2018 07 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29776928
10.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Am J Med Genet A;
176(3): 668-675, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29341480
11.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet;
95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25439728
12.
Sumoylation in Craniofacial Disorders.
Adv Exp Med Biol;
963: 323-335, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28197921
13.
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.
Am J Hum Genet;
90(4): 715-9, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22444668
14.
Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion.
Reprod Biomed Online;
31(5): 681-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26371709
15.
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Hum Mol Genet;
21(7): 1496-503, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22171071
16.
Fat dads must not be blamed for their children's health problems.
BMC Med;
11: 30, 2013 Feb 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23388448
17.
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Birth Defects Res A Clin Mol Teratol;
97(6): 398-402, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23733478
18.
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Hum Mutat;
33(2): 440-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22095531
19.
Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.
Birth Defects Res A Clin Mol Teratol;
94(6): 459-63, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22492558
20.
Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension.
Dis Model Mech;
15(1)2022 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34842271