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1.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Prenat Diagn
; 42(13): 1575-1586, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36403097
2.
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
Int J Mol Sci
; 23(22)2022 Nov 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36430969
3.
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.
Int J Mol Sci
; 21(10)2020 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-32413994
4.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Genes (Basel)
; 13(5)2022 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35627165
5.
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Genes (Basel)
; 12(5)2021 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33925474
6.
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Eur J Med Genet
; 63(2): 103639, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858057
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31851782
8.
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Stem Cell Res
; 40: 101553, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31491690
9.
Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient.
Stem Cell Res
; 30: 61-68, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29800782
10.
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829Aâ¯>â¯T, p.(Lys1277*).
Stem Cell Res
; 30: 175-179, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29944992
11.
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Eur J Med Genet
; 61(3): 173-180, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29174090
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