Detalhe da pesquisa
1.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
2.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
3.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
4.
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Pediatr Dev Pathol
; 25(5): 548-552, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481434
5.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
6.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506510
7.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
8.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508070
9.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838450
10.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
11.
Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering.
BMC Genomics
; 19(1): 177, 2018 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506485
12.
Transcriptional profiling of liver during the critical embryo-to-hatchling transition period in the chicken (Gallus gallus).
BMC Genomics
; 19(1): 695, 2018 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30241500
13.
microRNAs and the evolution of complex multicellularity: identification of a large, diverse complement of microRNAs in the brown alga Ectocarpus.
Nucleic Acids Res
; 43(13): 6384-98, 2015 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26101255
14.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat
; 37(12): 1329-1339, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363716
15.
Genome structure and metabolic features in the red seaweed Chondrus crispus shed light on evolution of the Archaeplastida.
Proc Natl Acad Sci U S A
; 110(13): 5247-52, 2013 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23503846
16.
Bacterial protein signals are associated with Crohn's disease.
Gut
; 63(10): 1566-77, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436141
17.
Transcriptional analysis of abdominal fat in genetically fat and lean chickens reveals adipokines, lipogenic genes and a link between hemostasis and leanness.
BMC Genomics
; 14: 557, 2013 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23947536
18.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Eur J Hum Genet
; 30(2): 219-228, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34707299
19.
Host inhibits replication of European porcine reproductive and respiratory syndrome virus in macrophages by altering differential regulation of type-I interferon transcriptional response.
Immunogenetics
; 63(7): 437-48, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21380581
20.
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
J Clin Endocrinol Metab
; 105(9)2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403133