Detalhe da pesquisa
1.
The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study.
J Assist Reprod Genet
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557804
2.
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.
J Med Genet
; 58(8): 526-533, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747439
3.
Epigenetics of pregnancy: looking beyond the DNA code.
J Assist Reprod Genet
; 39(4): 801-816, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301622
4.
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
J Assist Reprod Genet
; 39(11): 2581-2593, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36370240
5.
Molecular tools for the genomic assessment of oocyte's reproductive competence.
J Assist Reprod Genet
; 39(4): 847-860, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35124783
6.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
7.
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies.
J Assist Reprod Genet
; 38(2): 319-331, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236289
8.
IUI and uterine lavage of in vivo-produced blastocysts for PGT purposes: is it a technically and ethically reasonable perspective? Is it actually needed?
J Assist Reprod Genet
; 37(7): 1579-1582, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458102
9.
Failure mode and effects analysis of witnessing protocols for ensuring traceability during PGD/PGS cycles.
Reprod Biomed Online
; 33(3): 360-9, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27372783
10.
Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.
Genes (Basel)
; 14(11)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003038
11.
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.
Genes (Basel)
; 15(1)2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38275588
12.
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.
Genes (Basel)
; 14(3)2023 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36981019
13.
Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes.
Genes (Basel)
; 14(11)2023 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003012
14.
Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.
Pediatr Neurol
; 148: 152-156, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37722301
15.
Role of hormones, genes, and environment in human cryptorchidism.
Endocr Rev
; 29(5): 560-80, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18436703
16.
No difference in 5-HTTLPR and Stin2 polymorphisms frequency between premature ejaculation patients and controls.
J Sex Med
; 9(6): 1659-68, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22489680
17.
Fertility counseling in women with hereditary cancer syndromes.
Crit Rev Oncol Hematol
; 171: 103604, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091060
18.
Improvements in human sperm quality by long-term in vitro co-culture with isolated porcine Sertoli cells.
Hum Reprod
; 26(10): 2598-605, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21771775
19.
ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders.
Hum Reprod Open
; 2020(3): hoaa018, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500103
20.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782