Detalhe da pesquisa
1.
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).
Genet Med
; 22(7): 1201-1205, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32300199
2.
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genet Med
; 21(9): 2007-2014, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760892
3.
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.
J Hum Genet
; 64(4): 333-339, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30728427
4.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
J Med Genet
; 55(12): 824-830, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244195
5.
Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.
Am J Med Genet A
; 176(7): 1618-1621, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736967
6.
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Am J Med Genet A
; 173(10): 2622-2627, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742285
7.
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
Am J Hum Genet
; 93(3): 530-7, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23972370
8.
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
Am J Med Genet A
; 170(6): 1450-4, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969842
9.
Executive summary of the 11th HHT international scientific conference.
Angiogenesis
; 18(4): 511-24, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26391603
10.
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Am J Med Genet A
; 167A(8): 1747-57, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25944730
11.
A support vector machine for identification of single-nucleotide polymorphisms from next-generation sequencing data.
Bioinformatics
; 29(11): 1361-6, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23620357
12.
VarRanker: rapid prioritization of sequence variations associated with human disease.
BMC Bioinformatics
; 14 Suppl 13: S1, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268183
13.
Substrate-induced control of product formation by protein arginine methyltransferase 1.
Biochemistry
; 52(1): 199-209, 2013 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23214442
14.
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
BMC Med Genet
; 12: 119, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21936929
15.
Potential Utility of Pre-Emptive Germline Pharmacogenetics in Breast Cancer.
Cancers (Basel)
; 13(6)2021 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33799547
16.
Endogenous and iatrogenic sources of variability in response to opioid therapy in Post-Surgical and injured orthopedic patients.
Clin Chim Acta
; 522: 105-113, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384754
17.
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Mol Genet Genomic Med
; 9(12): e1685, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834622
18.
Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.
Cold Spring Harb Mol Case Stud
; 6(4)2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843429
19.
Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.
Sci Signal
; 11(513)2018 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339534
20.
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Eur J Hum Genet
; 26(10): 1521-1536, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891884