Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.
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| Title: | Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications. |
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| Authors: | Yiallouros, Panayiotis K.1,2 (AUTHOR) pyiall01@ucy.ac.cy, Anagnostopoulou, Pinelopi1,2 (AUTHOR) anagnostopoulou.pinelopi@ucy.ac.cy, Kouis, Panayiotis1 (AUTHOR) kouis.panayiotis@ucy.ac.cy, Matthaiou, Andreas Μ.1 (AUTHOR) matthaiou.andreas@ucy.ac.cy, Adamidi, Tonia3 (AUTHOR) tadamide@yahoo.gr, Ioannou, Phivos2 (AUTHOR) phiv.ioannou@gmail.com, Christopoulos, George4 (AUTHOR) gchrist@cing.ac.cy, Costi, Constantina5 (AUTHOR) harry@cing.ac.cy, Phylactou, Leonidas A.5 (AUTHOR) laphylac@cing.ac.cy, Fanis, Pavlos5 (AUTHOR) pavlosf@cing.ac.cy, Neocleous, Vassos5 (AUTHOR) vassosn@cing.ac.cy |
| Source: | Orphanet Journal of Rare Diseases. 4/29/2025, Vol. 20 Issue 1, p1-9. 9p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 184825595 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Yiallouros%2C+Panayiotis+K%2E%22">Yiallouros, Panayiotis K.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> pyiall01@ucy.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Anagnostopoulou%2C+Pinelopi%22">Anagnostopoulou, Pinelopi</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> anagnostopoulou.pinelopi@ucy.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Kouis%2C+Panayiotis%22">Kouis, Panayiotis</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> kouis.panayiotis@ucy.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Matthaiou%2C+Andreas+Μ%2E%22">Matthaiou, Andreas Μ.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> matthaiou.andreas@ucy.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Adamidi%2C+Tonia%22">Adamidi, Tonia</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> tadamide@yahoo.gr</i><br /><searchLink fieldCode="AR" term="%22Ioannou%2C+Phivos%22">Ioannou, Phivos</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> phiv.ioannou@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Christopoulos%2C+George%22">Christopoulos, George</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> gchrist@cing.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Costi%2C+Constantina%22">Costi, Constantina</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> harry@cing.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Phylactou%2C+Leonidas+A%2E%22">Phylactou, Leonidas A.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> laphylac@cing.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Fanis%2C+Pavlos%22">Fanis, Pavlos</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> pavlosf@cing.ac.cy</i><br /><searchLink fieldCode="AR" term="%22Neocleous%2C+Vassos%22">Neocleous, Vassos</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> vassosn@cing.ac.cy</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 4/29/2025, Vol. 20 Issue 1, p1-9. 9p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184825595 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03714-3 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 1 Titles: – TitleFull: Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Yiallouros, Panayiotis K. – PersonEntity: Name: NameFull: Anagnostopoulou, Pinelopi – PersonEntity: Name: NameFull: Kouis, Panayiotis – PersonEntity: Name: NameFull: Matthaiou, Andreas Μ. – PersonEntity: Name: NameFull: Adamidi, Tonia – PersonEntity: Name: NameFull: Ioannou, Phivos – PersonEntity: Name: NameFull: Christopoulos, George – PersonEntity: Name: NameFull: Costi, Constantina – PersonEntity: Name: NameFull: Phylactou, Leonidas A. – PersonEntity: Name: NameFull: Fanis, Pavlos – PersonEntity: Name: NameFull: Neocleous, Vassos IsPartOfRelationships: – BibEntity: Dates: – D: 29 M: 04 Text: 4/29/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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