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1.
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
Am J Med Genet A
; 191(4): 1101-1106, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36598152
2.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33988253
3.
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Genes (Basel)
; 14(12)2023 Nov 29.
Article
in English
| MEDLINE | ID: mdl-38136979
4.
An emerging player in the adaptive immune response: microRNA-146a is a modulator of IL-2 expression and activation-induced cell death in T lymphocytes.
Blood
; 115(2): 265-73, 2010 Jan 14.
Article
in English
| MEDLINE | ID: mdl-19965651
5.
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11).
J Pediatr Genet
; 11(1): 68-73, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35186394
6.
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Front Genet
; 13: 924362, 2022.
Article
in English
| MEDLINE | ID: mdl-35910214
7.
3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.
Diagnostics (Basel)
; 12(10)2022 Sep 28.
Article
in English
| MEDLINE | ID: mdl-36292043
8.
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Diagnostics (Basel)
; 12(12)2022 Nov 30.
Article
in English
| MEDLINE | ID: mdl-36553004
9.
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.
Clin Case Rep
; 9(1): 314-321, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33505690
10.
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
J Pediatr Genet
; 10(4): 292-299, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34849274
11.
Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability.
Diagnostics (Basel)
; 10(12)2020 Nov 25.
Article
in English
| MEDLINE | ID: mdl-33255855
12.
Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene.
Stem Cell Res
; 47: 101924, 2020 Jul 25.
Article
in English
| MEDLINE | ID: mdl-32739880
13.
Epilepsy phenotype in patients with Xp22.31 microduplication.
Epilepsy Behav Case Rep
; 11: 31-34, 2019.
Article
in English
| MEDLINE | ID: mdl-30603611
14.
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
Stem Cell Res
; 40: 101551, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31493762
15.
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).
Stem Cell Res
; 27: 74-77, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29334628
16.
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
Stem Cell Res
; 32: 73-77, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30218896
17.
Quantitative technologies establish a novel microRNA profile of chronic lymphocytic leukemia.
Blood
; 109(11): 4944-51, 2007 Jun 01.
Article
in English
| MEDLINE | ID: mdl-17327404
18.
Efficient gene silencing by expression of double stranded RNA in Neurospora crassa.
Fungal Genet Biol
; 41(11): 1016-24, 2004 Nov.
Article
in English
| MEDLINE | ID: mdl-15465390
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