Literature DB >> 25488195

Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing.

Armin Zebisch1, Eduard Schulz, Michela Grosso, Barbara Lombardo, Giovanni Acierno, Heinz Sill, Achille Iolascon.   

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Year:  2015        PMID： 25488195     DOI： 10.1002/ajh.23913

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  11 in total

1.  Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report.

Authors:  Annaluisa Ranieri; Iolanda Veneruso; Ilaria La Monica; Maria Grazia Pascale; Lucio Pastore; Valeria D'Argenio; Barbara Lombardo
Journal:  Medicina (Kaunas)       Date:  2022-04-07       Impact factor: 2.948

2.  Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.

Authors:  Haoqing Zhang; Caiyun Li; Jianbiao Li; Shuai Hou; Danjing Chen; Haiying Yan; Shiping Chen; Saijun Liu; Zhenzhen Yin; Xiaoqin Yang; Jufang Tan; Xiaoyan Huang; Liming Zhang; Junbin Fang; Caifen Zhang; Wei Li; Jian Guo; Dongzhu Lei
Journal:  J Clin Lab Anal       Date:  2019-02-27       Impact factor: 2.352

3.  Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis.

Authors:  Peisong Chen; Xuegao Yu; Hao Huang; Wentao Zeng; Xiaohong He; Min Liu; Bin Huang
Journal:  J Int Med Res       Date:  2020-12       Impact factor: 1.671

4.  Urinary Biomarkers: Diagnostic Tools for Monitoring Athletes' Health Status.

Authors:  Raffaela Pero; Mariarita Brancaccio; Cristina Mennitti; Luca Gentile; Sergio Arpino; Renato De Falco; Eleonora Leggiero; Annaluisa Ranieri; Chiara Pagliuca; Roberta Colicchio; Paola Salvatore; Giovanni D'Alicandro; Giulia Frisso; Barbara Lombardo; Cristina Mazzaccara; Raffaella Faraonio; Olga Scudiero
Journal:  Int J Environ Res Public Health       Date:  2020-08-20       Impact factor: 3.390

5.  Micro-RNA-125a mediates the effects of hypomethylating agents in chronic myelomonocytic leukemia.

Authors:  Johannes Lorenz Berg; Bianca Perfler; Stefan Hatzl; Marie-Christina Mayer; Sonja Wurm; Barbara Uhl; Andreas Reinisch; Ingeborg Klymiuk; Sascha Tierling; Gudrun Pregartner; Gerhard Bachmaier; Andrea Berghold; Klaus Geissler; Martin Pichler; Gerald Hoefler; Herbert Strobl; Albert Wölfler; Heinz Sill; Armin Zebisch
Journal:  Clin Epigenetics       Date:  2021-01-06       Impact factor: 6.551

6.  Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Authors:  Tiziana Fioretti; Luigi Auricchio; Angelo Piccirillo; Giuseppina Vitiello; Adelaide Ambrosio; Fabio Cattaneo; Rosario Ammendola; Gabriella Esposito
Journal:  Diagnostics (Basel)       Date:  2020-11-24

7.  Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient.

Authors:  Ilaria Fotzi; Francesco Pegoraro; Elena Chiocca; Tommaso Casini; Massimo Mogni; Marinella Veltroni; Claudio Favre
Journal:  Front Pediatr       Date:  2022-03-17       Impact factor: 3.418

8.  Identification of a De Novo Deletion by Using A-CGH Involving PLNAX2: An Interesting Candidate Gene in Psychomotor Developmental Delay.

Authors:  Noemi Falcone; Annaluisa Ranieri; Andrea Vitale; Lucio Pastore; Barbara Lombardo
Journal:  Medicina (Kaunas)       Date:  2022-04-08       Impact factor: 2.948

9.  Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.

Authors:  Barbara Lombardo; Valeria D'Argenio; Emanuele Monda; Andrea Vitale; Martina Caiazza; Lucia Sacchetti; Lucio Pastore; Giuseppe Limongelli; Giulia Frisso; Cristina Mazzaccara
Journal:  Mol Genet Genomic Med       Date:  2020-05-12       Impact factor: 2.183

10.  The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Authors:  Shiqiang Luo; Xingyuan Chen; Dingyuan Zeng; Ning Tang; Dejian Yuan; Qingyan Zhong; Aiping Mao; Ruofan Xu; Tizhen Yan
Journal:  J Hum Genet       Date:  2021-10-25       Impact factor: 3.172
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