Detalhe da pesquisa
1.
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
Am J Hum Genet
; 103(5): 740-751, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388401
2.
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.
Mod Pathol
; 33(7): 1264-1274, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937902
3.
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Am J Hum Genet
; 98(4): 735-43, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058446
4.
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Am J Hum Genet
; 96(6): 971-8, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26027496
5.
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
Am J Hum Genet
; 96(3): 425-31, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683117
6.
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Am J Hum Genet
; 96(6): 979-85, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26027498
7.
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.
Mod Pathol
; 31(1): 169-178, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28862265
8.
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Haemophilia
; 29(3): 921-924, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897533
9.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
J Med Genet
; 54(7): 490-501, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264986
10.
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.
Hum Mol Genet
; 24(2): 516-24, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25214535
11.
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hum Mol Genet
; 24(14): 4103-13, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911677
12.
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Hum Mutat
; 37(9): 976-82, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27349184
13.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Am J Hum Genet
; 92(2): 252-8, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23290074
14.
Infantile Pulmonary Teratoid Tumor.
N Engl J Med
; 378(23): 2238-2240, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29874541
15.
ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.
Bioinformatics
; 31(3): 429-31, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25297069
16.
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
Acta Neuropathol
; 131(6): 847-63, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26920151
17.
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
Am J Med Genet A
; 170(9): 2310-21, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375131
18.
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
Haemophilia
; 27(5): e638-e640, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232555
19.
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
J Med Genet
; 52(6): 381-90, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873735
20.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
J Med Genet
; 52(6): 413-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25795793