Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Saved in:
| Title: | Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. |
|---|---|
| Authors: | Holt, Richard1 (AUTHOR), Goudie, David2 (AUTHOR), Verde, Alejandra Damián3,4 (AUTHOR), Gardham, Alice5 (AUTHOR), Ramond, Francis6 (AUTHOR), Putoux, Audrey7,8 (AUTHOR), Sarkar, Ajoy9 (AUTHOR), Clowes, Virginia5 (AUTHOR), Clayton-Smith, Jill10,11 (AUTHOR), Banka, Siddharth10,11 (AUTHOR), Cortazar Galarza, Laura12 (AUTHOR), Thuret, Gilles13 (AUTHOR), Ubeda Erviti, Marta12 (AUTHOR), Zurutuza Ibarguren, Ane14 (AUTHOR), Sáez Villaverde, Raquel15 (AUTHOR), Tamayo Durán, Alejandra3,4 (AUTHOR), Ayuso, Carmen3,4 (AUTHOR), Bax, Dorine A1 (AUTHOR), Plaisancie, Julie16,17 (AUTHOR), Corton, Marta3,4 (AUTHOR) |
| Source: | Ophthalmic Genetics. Dec2022, Vol. 43 Issue 6, p809-816. 8p. |
| Database: | Academic Search Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: asn DbLabel: Academic Search Ultimate An: 161545439 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Holt%2C+Richard%22">Holt, Richard</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Goudie%2C+David%22">Goudie, David</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Verde%2C+Alejandra+Damián%22">Verde, Alejandra Damián</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gardham%2C+Alice%22">Gardham, Alice</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ramond%2C+Francis%22">Ramond, Francis</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Putoux%2C+Audrey%22">Putoux, Audrey</searchLink><relatesTo>7,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sarkar%2C+Ajoy%22">Sarkar, Ajoy</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Clowes%2C+Virginia%22">Clowes, Virginia</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Clayton-Smith%2C+Jill%22">Clayton-Smith, Jill</searchLink><relatesTo>10,11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Banka%2C+Siddharth%22">Banka, Siddharth</searchLink><relatesTo>10,11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cortazar+Galarza%2C+Laura%22">Cortazar Galarza, Laura</searchLink><relatesTo>12</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Thuret%2C+Gilles%22">Thuret, Gilles</searchLink><relatesTo>13</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ubeda+Erviti%2C+Marta%22">Ubeda Erviti, Marta</searchLink><relatesTo>12</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zurutuza+Ibarguren%2C+Ane%22">Zurutuza Ibarguren, Ane</searchLink><relatesTo>14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sáez+Villaverde%2C+Raquel%22">Sáez Villaverde, Raquel</searchLink><relatesTo>15</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tamayo+Durán%2C+Alejandra%22">Tamayo Durán, Alejandra</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ayuso%2C+Carmen%22">Ayuso, Carmen</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bax%2C+Dorine+A%22">Bax, Dorine A</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Plaisancie%2C+Julie%22">Plaisancie, Julie</searchLink><relatesTo>16,17</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Corton%2C+Marta%22">Corton, Marta</searchLink><relatesTo>3,4</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Dec2022, Vol. 43 Issue 6, p809-816. 8p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=161545439 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/13816810.2022.2144905 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 809 Titles: – TitleFull: Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Holt, Richard – PersonEntity: Name: NameFull: Goudie, David – PersonEntity: Name: NameFull: Verde, Alejandra Damián – PersonEntity: Name: NameFull: Gardham, Alice – PersonEntity: Name: NameFull: Ramond, Francis – PersonEntity: Name: NameFull: Putoux, Audrey – PersonEntity: Name: NameFull: Sarkar, Ajoy – PersonEntity: Name: NameFull: Clowes, Virginia – PersonEntity: Name: NameFull: Clayton-Smith, Jill – PersonEntity: Name: NameFull: Banka, Siddharth – PersonEntity: Name: NameFull: Cortazar Galarza, Laura – PersonEntity: Name: NameFull: Thuret, Gilles – PersonEntity: Name: NameFull: Ubeda Erviti, Marta – PersonEntity: Name: NameFull: Zurutuza Ibarguren, Ane – PersonEntity: Name: NameFull: Sáez Villaverde, Raquel – PersonEntity: Name: NameFull: Tamayo Durán, Alejandra – PersonEntity: Name: NameFull: Ayuso, Carmen – PersonEntity: Name: NameFull: Bax, Dorine A – PersonEntity: Name: NameFull: Plaisancie, Julie – PersonEntity: Name: NameFull: Corton, Marta IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 13816810 Numbering: – Type: volume Value: 43 – Type: issue Value: 6 Titles: – TitleFull: Ophthalmic Genetics Type: main |
| ResultId | 1 |