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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
ISSN
1437-4331
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Volume 52, Issue 7

Issues

Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR

Silvia Galbiati
  • Corresponding author
  • San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Milan, Italy
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/ Stefania Stenirri
  • San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Milan, Italy
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/ Luca Sbaiz
  • Molecular Genetics Unit, Città della salute e della Scienza di Torino Presidio OIRM-S.Anna, Torino, Italy
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/ Marco Barberis
  • Molecular Genetics Unit, Città della salute e della Scienza di Torino Presidio OIRM-S.Anna, Torino, Italy
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/ Laura Cremonesi
  • San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Milan, Italy
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/ Gabriella Restagno
  • Molecular Genetics Unit, Città della salute e della Scienza di Torino Presidio OIRM-S.Anna, Torino, Italy
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/ Maurizio Ferrari
  • San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Milan, Italy
  • Università Vita-Salute San Raffaele, Milan, Italy
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Published Online: 2014-04-04 | DOI: https://doi.org/10.1515/cclm-2013-1116

References

  • 1.

    Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, et al. Genetic heterogeneity of Sathre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998;62:1370–80.Google Scholar

  • 2.

    Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, et al. A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat 2001;18:535–41.PubMedGoogle Scholar

About the article

Corresponding author: Silvia Galbiati, San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Via Olgettina 60, 20132 Milan, Italy, Phone: + 39 02 26434358, Fax: + 39 02 26434351, E-mail:

aGabriella Restagno and Maurizio Ferrari contributed equally to this work.


Received: 2013-12-30

Accepted: 2014-01-08

Published Online: 2014-04-04

Published in Print: 2014-07-01


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), Volume 52, Issue 7, Pages e129–e130, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2013-1116.

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