Literature DB >> 28488976

Haemophilia A: the consequences of de novo mutations. Two case reports.

Federica Zarrilli1,2, Antonio Coppola3, Michele Schiavulli4, Ernesto Cimino3, Ausilia Elce5, Giuseppe Rescigno6, Giuseppe Castaldo2,7, Felice Amato2,7.   

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Year:  2017        PMID： 28488976      PMCID： PMC6034774          DOI： 10.2450/2017.0292-16

Source DB:  PubMed          Journal:  Blood Transfus        ISSN： 1723-2007            Impact factor:   3.443


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  17 in total

1.  Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome.

Authors:  A Chuansumrit; W Sasanakul; A Goodeve; T Treratvirapong; R Parinayok; P Pintadit; P Hathirat
Journal:  Thromb Haemost       Date:  1999-10       Impact factor: 5.249

2.  Denaturing HPLC procedure for factor IX gene scanning.

Authors:  Giuseppe Castaldo; Paola Nardiello; Fabiana Bellitti; Angiola Rocino; Antonio Coppola; Giovanni di Minno; Francesco Salvatore
Journal:  Clin Chem       Date:  2003-05       Impact factor: 8.327

3.  Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.

Authors:  Mahdi Shahriari; Asghar Bazrafshan; Mohamad Moghadam; Mehran Karimi
Journal:  Blood Coagul Fibrinolysis       Date:  2016-04       Impact factor: 1.276

4.  Prenatal diagnosis of haemophilia: our experience of 44 cases.

Authors:  Federica Zarrilli; Veronica Sanna; Rosaria Ingino; Rita Santamaria; Angiola Rocino; Antonio Coppola; Giovanni Di Minno; Giuseppe Castaldo
Journal:  Clin Chem Lab Med       Date:  2013-12       Impact factor: 3.694

Review 5.  Haemophilia A: molecular insights.

Authors:  Giuseppe Castaldo; Valeria D'Argenio; Paola Nardiello; Federica Zarrilli; Veronica Sanna; Angiola Rocino; Antonio Coppola; Giovanni Di Minno; Francesco Salvatore
Journal:  Clin Chem Lab Med       Date:  2007       Impact factor: 3.694

6.  Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

Authors:  Giuseppe Maria Maruotti; Giulia Frisso; Giuseppe Calcagno; Giuliana Fortunato; Giuseppe Castaldo; Pasquale Martinelli; Lucia Sacchetti; Francesco Salvatore
Journal:  Clin Chem Lab Med       Date:  2013-12       Impact factor: 3.694

7.  Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele.

Authors:  A Kentsis; R Anewalt; A Ganguly; J B Allen; E J Neufeld
Journal:  Haemophilia       Date:  2009-04-27       Impact factor: 4.287

8.  Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Authors:  R Santacroce; M Acquila; D Belvini; G Castaldo; I Garagiola; S H Giacomelli; A M Lombardi; B Minuti; F Riccardi; R Salviato; L Tagliabue; E Grandone; M Margaglione
Journal:  J Hum Genet       Date:  2008-01-23       Impact factor: 3.172

9.  Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Authors:  Pilar Casaña; Noelia Cabrera; Ana Rosa Cid; Saturnino Haya; Magdalena Beneyto; Carmen Espinós; Vicente Cortina; Maria Angeles Dasí; Josè Antonio Aznar
Journal:  Haematologica       Date:  2008-04-09       Impact factor: 9.941

10.  Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.

Authors:  L Kessler; R Adams; L Mighion; S Walther; A Ganguly
Journal:  Haemophilia       Date:  2014-09-06       Impact factor: 4.287
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  3 in total

Review 1.  Genetic causes of haemophilia in women and girls.

Authors:  Connie H Miller; Christopher J Bean
Journal:  Haemophilia       Date:  2020-12-13       Impact factor: 4.263

2.  Prenatal Diagnosis of Cystic Fibrosis and Hemophilia: Incidental Findings and Weak Points.

Authors:  Marika Comegna; Giuseppe Maria Maruotti; Laura Sarno; Gustavo Cernera; Monica Gelzo; Maurizio Guida; Fulvio Zullo; Federica Zarrilli; Giuseppe Castaldo
Journal:  Diagnostics (Basel)       Date:  2019-12-21

3.  Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Authors:  Mengmeng Shi; Angeline Linna Liauw; Steve Tong; Yu Zheng; Tak Yeung Leung; Shuk Ching Chong; Ye Cao; Tze Kin Lau; Kwong Wai Choy; Jacqueline P W Chung
Journal:  Genes (Basel)       Date:  2021-03-29       Impact factor: 4.096
  3 in total

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