Detalhe da pesquisa
1.
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.
J Hepatol;
79(6): 1385-1395, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37572794
2.
Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap.
Rheumatology (Oxford);
61(8): 3497-3501, 2022 08 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35171267
3.
Effect of micro-osteoperforations on the gene expression profile of the periodontal ligament of orthodontically moved human teeth.
Clin Oral Investig;
26(2): 1985-1996, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34499218
4.
Are serum brain-derived neurotrophic factor concentrations related to brain structure and psychopathology in late childhood and early adolescence?
CNS Spectr;
25(6): 790-796, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31845634
5.
Common variants at 5q33.1 predispose to migraine in African-American children.
J Med Genet;
55(12): 831-836, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30266756
6.
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).
J Pediatr;
194: 248-252.e2, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29269196
7.
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Am J Med Genet A;
176(1): 75-81, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29130604
8.
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
Hum Mutat;
38(5): 507-510, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28150392
9.
Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.
J Immunol;
195(4): 1599-607, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26188062
10.
Copy number variation analysis reveals additional variants contributing to endometriosis development.
J Assist Reprod Genet;
34(1): 117-124, 2017 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27817035
11.
A current snapshot of common genomic variants contribution in psychiatric disorders.
Am J Med Genet B Neuropsychiatr Genet;
171(8): 997-1005, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27486013
12.
Gene expression in B-1 cells from lupus-prone mice.
Immunol Invest;
43(7): 675-92, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24950194
13.
Sleep is not just for the brain: transcriptional responses to sleep in peripheral tissues.
BMC Genomics;
14: 362, 2013 May 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23721503
14.
Alterations in microRNA of extracellular vesicles associated with major depression, attention-deficit/hyperactivity and anxiety disorders in adolescents.
Transl Psychiatry;
13(1): 47, 2023 02 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36746925
15.
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.
Am J Med Genet B Neuropsychiatr Genet;
159B(7): 823-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22911893
16.
Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome.
Genes (Basel);
13(12)2022 12 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36553675
17.
Mechanisms of ring chromosome formation, ring instability and clinical consequences.
BMC Med Genet;
12: 171, 2011 Dec 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22188645
18.
Comprehensive Assessment of Copy Number Alterations Uncovers Recurrent AIFM3 and DLK1 Copy Gain in Medullary Thyroid Carcinoma.
Cancers (Basel);
13(2)2021 Jan 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33435319
19.
Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.
Am J Med Genet A;
152A(8): 2074-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20635361
20.
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.
Am J Med Genet A;
152A(11): 2865-9, 2010 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20979193