CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study - Wikidata - awgldk - TriplyDB

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

http://www.wikidata.org/entity/Q33960375

about

Update on oral-facial-digital syndromes (OFDS)Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

P2860

Q26747724-CD265115-6554-4245-92F7-562DDE066C53 Q31150423-8A75E835-7B73-49F2-8440-819DEED7CC2D Q36891722-A95BE06B-F7C7-4CB2-9E28-D154F8FD09AC Q37235765-3424A825-FAB9-42BB-822B-509FC39E9BC6 Q37249898-DDF21155-1861-4223-9570-A4507DE489BA Q37491993-48F06909-89B9-4FD0-8348-0EFDF70734A7 Q39231616-9189F925-7F75-4856-9D3F-C41FBDA26AAB Q40839071-B614C41C-1DB9-4767-B5E3-7E86C9986070 Q52790648-6BFD5B77-B6E2-4CBF-8587-2490175D25FC

P2860

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

http://www.wikidata.org/entity/Q33960375

description

2014 nî lūn-bûn

@nan

2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@ast

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@en

type

label

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@ast

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@en

prefLabel

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@ast

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@en

P1433

Q33960375-D7B328FD-87AD-4102-9F7F-F7953CDF5842

P1476

Q33960375-843C5A75-F17A-4C7B-A82B-9C503B3392DE

P2093

Q33960375-01905614-D066-445D-ABD2-98B78EA9AFDA

Q33960375-25A4AA45-64B6-42BC-A333-AF6C41A695B0

Q33960375-3015D72B-3023-4831-B0A6-D154C99D9BD6

Q33960375-398AF713-DAF3-4C61-858E-25FCFB5FF808

Q33960375-AD4CDEFB-3AC6-47E2-864A-4A755CFB6905

Q33960375-C4A79775-E972-46FA-B193-32195D8ABB02

Q33960375-CDC99149-5166-47A5-B238-8E576B4B8254

Q33960375-F367F7D3-0AE1-4DB2-810D-891711DC41C5

Q33960375-F377CA2F-A84D-46C1-BB7B-4307F49FE781

Q33960375-FFABE21A-F213-4253-97CB-3406C7B7E2E6

P2860

Q33960375-09FE31CE-C585-4D03-869D-8F011B6304ED

Q33960375-0F323860-DA76-4F74-82CF-B2D4C4AC2A6F

Q33960375-16F2104A-8128-49D1-BC9D-20BD97BF6DF0

Q33960375-16F65C1F-EDFA-4625-9DA7-2E72AC2045DF

Q33960375-1903A27D-329B-4AF0-A6C6-14779C908125

Q33960375-1C2D63D0-5447-4AEB-8CBD-5BBD74111943

Q33960375-2555CFA4-8AD4-4ADF-89C9-F39039B3DAAD

Q33960375-2CBA1637-DD7A-4704-9F8C-92EB6B3DE818

Q33960375-2CBA967F-DDD3-4BC9-9845-B86E70B0B274

Q33960375-2D2EFDAB-8105-42E1-8687-239B9150EDF4

P2888

Q33960375-0E85C438-F7E1-449F-9676-6A522F56B1B4

P304

Q33960375-90406B63-76EE-44C5-A0DD-483476027A25

P31

Q33960375-D44B0FD0-06FA-484B-9F51-16CB27B1B913

P356

Q33960375-A9346CDB-461C-48C4-9E26-FCAF37DD3107

P478

Q33960375-2C180444-B889-4760-9F3F-9DFA8C5047D6

P50

Q33960375-B603D85B-3B41-4B52-92C6-39F585A26836

Q33960375-BD7D6E4A-7E0A-480B-A202-60BDC360A987

P577

Q33960375-A8AB230A-23BF-4DC6-9395-9FAEC507B903

P5875

Q33960375-A0B7D877-1B41-4FBA-AB3C-582C6D797F53

P6179

Q33960375-EDE8803C-CE4E-4296-87EA-79EDD379CEB8

P698

Q33960375-F3D586FC-66AF-4DC0-8B71-854D4F09089A

P921

Q33960375-C4624FA6-5CCA-4111-B753-186B912B1699

P932

Q33960375-A0170CCE-7793-4764-BD30-BBF985B449E0

P356

P1433

Orphanet Journal of Rare Diseases

P1476

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

@en

P2093

Alessandra D'Amico

http://www.w3.org/2001/XMLSchema#string

Christel Thauvin-Robinet

http://www.w3.org/2001/XMLSchema#string

Ennio Del Giudice

http://www.w3.org/2001/XMLSchema#string

Floriana Imperati

http://www.w3.org/2001/XMLSchema#string

Laurent Pasquier

http://www.w3.org/2001/XMLSchema#string

Marina Macca

http://www.w3.org/2001/XMLSchema#string

Oral-Facial-Digital Type I (OFD1) Collaborative Group

http://www.w3.org/2001/XMLSchema#string

Philippe Parent

http://www.w3.org/2001/XMLSchema#string

Valerie Layet

http://www.w3.org/2001/XMLSchema#string

Veronique Stamboul-Darmency

http://www.w3.org/2001/XMLSchema#string

P2860

Joubert Syndrome and related disorders

Ofd1, a human disease gene, regulates the length and distal structure of centrioles

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Identification of the gene for oral-facial-digital type I syndrome

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation

Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

P2888

P304

74

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1186/1750-1172-9-74

http://www.w3.org/2001/XMLSchema#string

P478

9

http://www.w3.org/2001/XMLSchema#string

P50

Brunella Franco

Stanislas Lyonnet

P577

2014-05-10T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

262810146

http://www.w3.org/2001/XMLSchema#string

P6179

1018497637

http://www.w3.org/2001/XMLSchema#string

P698

24884629

http://www.w3.org/2001/XMLSchema#string

P921

P932

4113190

http://www.w3.org/2001/XMLSchema#string