Detalhe da pesquisa
1.
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
Genes (Basel)
; 15(1)2024 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254992
2.
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
Dermatol Online J
; 17(1): 3, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21272494
3.
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease.
Stem Cell Res
; 53: 102329, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33865103
4.
Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene.
Stem Cell Res
; 49: 102083, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370868
5.
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
Ann Clin Transl Neurol
; 7(5): 855-859, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32315120
6.
Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic ß-cell dysfunction.
Acta Diabetol
; 56(8): 883-888, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963309
7.
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.
Mol Cytogenet
; 8: 70, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26336513
8.
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Medicine (Baltimore)
; 82(3): 203-15, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12792306
9.
A case of premature ovarian failure in a 33-year-old woman.
Case Rep Genet
; 2013: 573841, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23509644