Detalhe da pesquisa
1.
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
Hepatology
; 79(6): 1279-1292, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146932
2.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Hepatology
; 77(2): 512-529, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036223
3.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
; 28(3): 359-367, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306961
4.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
5.
CXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma.
N Engl J Med
; 390(14): 1339-1341, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38598804
6.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clin Chem
; 68(2): 313-321, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871369
7.
PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.
Am J Med Genet A
; 188(1): 243-248, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477311
8.
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
Am J Med Genet A
; 188(12): 3550-3554, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36129367
9.
The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients.
Int J Mol Sci
; 24(1)2022 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613935
10.
Involvement of CFTR in the pathogenesis of pulmonary arterial hypertension.
Eur Respir J
; 58(5)2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33926975
11.
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Clin Endocrinol (Oxf)
; 94(4): 667-676, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296530
12.
Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Neuroendocrinology
; 111(1-2): 99-114, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32074614
13.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Genet Med
; 22(11): 1759-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724172
14.
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Hum Reprod
; 35(4): 939-949, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242900
15.
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Hum Reprod
; 34(1): 137-147, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476149
16.
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
Hum Mutat
; 37(8): 794-803, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120390
17.
Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.
Hum Reprod
; 31(6): 1363-74, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094476
18.
Cistrome of the aldosterone-activated mineralocorticoid receptor in human renal cells.
FASEB J
; 29(9): 3977-89, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26054365
19.
Iron Overload Exacerbates Busulfan-Melphalan Toxicity Through a Pharmacodynamic Interaction in Mice.
Pharm Res
; 33(8): 1913-22, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27091031
20.
Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
J Pediatr Gastroenterol Nutr
; 61(1): 91-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25643021