Detalhe da pesquisa
1.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554721
2.
Characterization and comparison of innate and adaptive immune responses at vaccine sites in melanoma vaccine clinical trials.
Cancer Immunol Immunother
; 70(8): 2151-2164, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454795
3.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865493
4.
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
Am J Med Genet A
; 173(5): 1294-1300, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374929
5.
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Am J Med Genet A
; 173(5): 1309-1318, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371260
6.
Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.
Mol Hum Reprod
; 22(1): 18-34, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502805
7.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Am J Med Genet A
; 170(3): 559-64, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26572961
8.
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
Am J Med Genet A
; 170(12): 3197-3206, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27589201
9.
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Am J Med Genet A
; 170(9): 2237-47, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27264673
10.
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
BMC Urol
; 16(1): 62, 2016 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27769252
11.
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Am J Med Genet A
; 167A(2): 271-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394726
12.
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Am J Med Genet A
; 167A(9): 2085-97, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914166
13.
A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: a Children's Oncology Group Phase I Consortium report.
Pediatr Blood Cancer
; 62(5): 751-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728527
14.
Mycobacterium avium Complex Diversity within Lung Disease, as Revealed by Whole-Genome Sequencing.
Am J Respir Crit Care Med
; 200(3): 393-396, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30965019
15.
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Am J Med Genet A
; 164A(9): 2240-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942156
16.
Investigating the impact of antibiotic-induced dysbiosis on protection from Clostridium difficile colitis by mouse colonic innate lymphoid cells.
mBio
; 15(3): e0333823, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38376154
17.
HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.
Circ Arrhythm Electrophysiol
; 17(4): e012022, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38415356
18.
Nanosphere pharmacodynamics improves safety of immunostimulatory cytokine therapy.
iScience
; 27(2): 108836, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303687
19.
Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
Genet Med
; 15(7): 554-7, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23429430
20.
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.
Am J Med Genet A
; 161A(9): 2258-65, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918324