Literature DB >> 23140572

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.

V Sanna1, C Ceglia, M Tarsitano, B Lombardo, A Coppola, F Zarrilli, G Castaldo, G Di Minno.   

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Year:  2013        PMID： 23140572     DOI： 10.1111/jth.12061

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  5 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.  Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort.

Authors:  Azhar Sattar; Shabbir Hussain; Muhammad Ikram Ullah; Saqib Mahmood; Shahida Mohsin
Journal:  Turk J Haematol       Date:  2017-03-15       Impact factor: 1.831

3.  Aberrant X chromosomal rearrangement through multi-step template switching during sister chromatid formation in a patient with severe hemophilia A.

Authors:  Mahiru Tokoro; Shogo Tamura; Nobuaki Suzuki; Misaki Kakihara; Yuna Hattori; Koya Odaira; Sachiko Suzuki; Akira Takagi; Akira Katsumi; Fumihiko Hayakawa; Shuichi Okamoto; Atsuo Suzuki; Takeshi Kanematsu; Tadashi Matsushita; Tetsuhito Kojima
Journal:  Mol Genet Genomic Med       Date:  2020-07-05       Impact factor: 2.183

4.  Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie.

Authors:  Carmine De Angelis; Carmela Nardelli; Paola Concolino; Martina Pagliuca; Mario Setaro; Elisa De Paolis; Pietro De Placido; Valeria Forestieri; Giovanni Luca Scaglione; Annalisa Ranieri; Barbara Lombardo; Lucio Pastore; Sabino De Placido; Ettore Capoluongo
Journal:  Front Oncol       Date:  2021-02-24       Impact factor: 6.244

5.  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
  5 in total

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