Detalhe da pesquisa
1.
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis.
Int Arch Allergy Immunol
; 184(1): 76-84, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273440
2.
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
Am J Med Genet A
; 191(7): 1849-1857, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081310
3.
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.
PLoS Comput Biol
; 18(9): e1009785, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36129964
4.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
J Clin Immunol
; 42(2): 286-298, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716846
5.
Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the NF2:c.784C>T p.(Arg262*) variant.
Clin Neuropathol
; 41(4): 162-167, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445657
6.
Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature.
Klin Padiatr
; 234(5): 317-319, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139546
7.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum Genet
; 139(11): 1443-1454, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514796
8.
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Clin Genet
; 98(4): 374-378, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627184
9.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
10.
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
Int J Cancer
; 144(11): 2683-2694, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30426508
11.
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
BMC Cancer
; 19(1): 787, 2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395037
12.
Comparison of Different Selection Strategies for Tolvaptan Eligibility among Autosomal Dominant Polycystic Kidney Disease Patients.
Am J Nephrol
; 50(4): 281-290, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31473739
13.
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Am J Med Genet A
; 179(7): 1383-1389, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31062505
14.
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
Breast Cancer Res
; 20(1): 87, 2018 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086788
15.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res
; 20(1): 7, 2018 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368626
16.
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Breast Cancer Res Treat
; 172(3): 561-569, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30191368
17.
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
Am J Med Genet A
; 176(6): 1449-1454, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696793
18.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet
; 53(7): 465-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928436
19.
Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
Brain
; 143(11): e91, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33146701
20.
Current genetic diagnostics in inborn errors of immunity.
Front Pediatr
; 12: 1279112, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38659694