Detalhe da pesquisa
1.
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Br J Dermatol
; 188(6): 770-776, 2023 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879448
2.
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease.
J Inherit Metab Dis
; 46(5): 982-991, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37254446
3.
Monitoring of Donor-Derived Cell-Free DNA by Short Tandem Repeats: Concentration of Total Cell-Free DNA and Fragment Size for Acute Rejection Risk Assessment in Liver Transplantation.
Liver Transpl
; 28(2): 257-268, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407295
4.
Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities.
Fetal Diagn Ther
; 48(11-12): 849-856, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872079
5.
Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.
Clin Genet
; 98(4): 379-383, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32632923
6.
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Hum Reprod
; 35(5): 1222-1229, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386059
7.
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension.
J Med Genet
; 56(7): 481-490, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894412
8.
Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies.
Fetal Diagn Ther
; 45(2): 118-124, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977787
9.
IRF4 rs12203592 functional variant and melanoma survival.
Int J Cancer
; 140(8): 1845-1849, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103633
10.
Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Nature
; 531(7592): 126, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633630
11.
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Nature
; 480(7375): 94-8, 2011 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22012259
12.
Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.
Photodermatol Photoimmunol Photomed
; 38(1): 86-91, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34319628
13.
Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.
Fetal Diagn Ther
; 42(3): 174-180, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27802431
14.
A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.
Cytogenet Genome Res
; 149(4): 258-261, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27653741
15.
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Genet Med
; 18(7): 727-36, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681309
16.
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Ann Neurol
; 77(5): 889-94, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631192
17.
Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.
Clin Chem Lab Med
; 54(11): 1733-1738, 2016 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27101548
18.
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.
Neurodegener Dis
; 16(3-4): 290-2, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26609701
19.
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.
Dermatology
; 231(3): 217-21, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26278556
20.
Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.
J Am Acad Dermatol
; 71(5): 888-95, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064638