Detalhe da pesquisa
1.
A novel NONO nonsense variant in a fetus with renal abnormalities.
Prenat Diagn
; 44(1): 77-80, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110236
2.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
3.
Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?
Fetal Diagn Ther
; 48(1): 9-14, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906126
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.
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
7.
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?
Fetal Diagn Ther
; 47(4): 315-320, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955157
8.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851191
9.
Paternal transmission of a FMR1 full mutation allele.
Am J Med Genet A
; 173(10): 2795-2797, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815939
10.
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
11.
Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.
Cerebellum
; 15(5): 570-7, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27315125
12.
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
13.
Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.
Neurobiol Dis
; 65: 43-54, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24418349
14.
High apolipoprotein E4 allele frequency in FXTAS patients.
Genet Med
; 15(8): 639-42, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23492875
15.
Editorial for the Molecular Mechanisms in Neurodevelopmental Disorders Special Issue.
Genes (Basel)
; 14(9)2023 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761902
16.
Transcriptomic study in explanted liver from a patient with acute intermittent porphyria.
JIMD Rep
; 64(1): 10-16, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636600
17.
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Genes (Basel)
; 14(4)2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107571
18.
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
Am J Hum Genet
; 85(6): 809-22, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004760
19.
12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.
Am J Med Genet A
; 158A(5): 1071-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488686
20.
In vitro activity of essential oils against microbial isolates from otitis externa cases in dogs.
Nat Prod Res
; 36(17): 4552-4556, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672232