Detalhe da pesquisa
1.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 61(6): 595-604, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408845
2.
Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier.
J Assist Reprod Genet
; 40(1): 33-40, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36441422
3.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Am J Hum Genet
; 105(1): 198-212, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178125
4.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
5.
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Am J Hum Genet
; 102(3): 487-493, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478779
6.
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
7.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Am J Med Genet A
; 185(10): 3057-3061, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043868
8.
Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes.
J Assist Reprod Genet
; 38(9): 2491-2499, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34076795
9.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Hum Mol Genet
; 27(7): 1228-1240, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373757
10.
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Genet Med
; 22(1): 150-159, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337883
11.
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study.
J Urol
; 203(5): 1017-1023, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855125
12.
Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers.
J Assist Reprod Genet
; 37(4): 803-809, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193768
13.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
14.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29223973
15.
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
J Assist Reprod Genet
; 36(5): 973-978, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850901
16.
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Am J Med Genet A
; 176(1): 151-155, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130637
17.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284480
18.
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Reprod Biomed Online
; 35(4): 372-378, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711302
19.
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Am J Hum Genet
; 91(5): 958-64, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122589
20.
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
Am J Med Genet A
; 167A(2): 428-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428228