Medical sequencing of candidate genes for nonsyndromic cleft lip and palate - Test2 - elhamkhani - TriplyDB

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

http://www.wikidata.org/entity/Q21563465

about

Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate Testing reported associations of genetic risk factors for oral clefts in a large Irish study population Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23 Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate Genomic expression in non syndromic cleft lip and palate patients: A review Palatogenesis and cutaneous repair: A two-headed coin Cilia and developmental signaling Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.Forging links between human mental retardation-associated CNVs and mouse gene knockout models.Cleft lip and palate genetics and application in early embryological development.Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population.Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).Identification of a face enhancer reveals direct regulation of LIM homeobox 8 (Lhx8) by wingless-int (WNT)/β-catenin signaling.Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population Wound complications after cleft repair in children with Van der Woude syndrome.Oral cleft prevention program (OCPP).Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Further delineation of the SATB2 phenotype.Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.Digital imaging analysis to assess scar phenotype.Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins.A comprehensive review of the genetic basis of cleft lip and palate Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2.Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.Lhx6 and Lhx8: cell fate regulators and beyond Genetics of nonsyndromic orofacial clefts Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P.Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.

P2860

Q21091121-3F0E3F73-11DC-44A7-9AF6-475A7D5F646F Q24607738-BCE5FAE1-6FFA-43FE-8EB1-CCEB5CDFCA2D Q24608802-26881A45-9A2C-480E-9E02-8FE86C72F14C Q24645240-F57FD025-3A97-4A13-A0D6-0A482AF061A6 Q24645962-471DD87C-09B0-4263-82FF-F653B7F27D91 Q24650525-7D61D22B-FCA4-4F64-8371-8CC0DF2686CB Q24650690-0A41C302-D342-4B5F-9F0E-3902BEBA8634 Q24655358-7F521C93-E61C-472A-BB89-F715A5799045 Q26799998-07E40B69-E1AF-428C-8A36-E2CE996822CC Q26823939-5F205669-3608-4080-9A0C-8EAFA6494917 Q28302606-C5B28421-3735-45FC-9788-5243BB6B89F8 Q28512086-4AD91D64-A400-4936-9A94-B23185164EC8 Q28943468-5BE92766-3024-4AB6-AA08-8F30A6B3A744 Q30394234-A210116D-6448-44E8-9EAF-D121C77BFC4F Q33436216-90C513B5-2543-47E6-9AC3-F02B342B9F9F Q33474855-5D263CE1-E8C6-4914-8F60-445CB5365853 Q33671456-15FE368D-56F7-45AC-9432-1B0551AE82A6 Q33672524-A4C28755-E147-470E-BD9C-74AA4D956083 Q33801108-1D2E0F98-E782-4583-A735-4C5ADF1BAD63 Q34105912-E0ABA640-2785-4BCB-8BD6-051E4E928ED9 Q34156011-21BC4FEA-219C-4847-90BD-DC9CF95E21A4 Q34430914-9F525EFE-5150-48DF-8A78-C31B3FE0B005 Q34431283-E1405822-4CCE-4F74-A88F-437B7F02C2FF Q34479458-AA719998-FFED-425A-BBD6-B9BEA46C817A Q34488750-0B7EADF4-6C6C-4C33-B738-82BF0C8D9D7D Q35015902-9851BEFC-FA52-4D71-8138-E77E9517C09C Q35150491-3933BE50-6757-47B2-B579-D3DB4DBC6B9F Q35208819-251C7FC7-A522-448E-A215-1A3BF47BAE35 Q35510647-F610A291-2F6B-4792-B288-B21BC32E694E Q35545263-6EBD4438-D08B-4A0A-9376-AC07712AE291 Q35562528-716C6445-14AA-405B-9FBC-000B44554110 Q35829617-F7B79180-3D08-4DC9-BF2F-402F51776961 Q35924085-FA002D28-394D-4E7F-BEA8-78C550E21259 Q35946538-420EF335-7F16-4722-98C7-3C466DF2D8D1 Q36051480-EE04C42B-601E-41B5-B9A4-BDE1E83B2FD4 Q36219320-800C5F90-3E2C-401D-989B-1642A42BFB19 Q36446681-318982F8-4080-459B-B30C-A0FC00EB9040 Q36663060-623924DC-71FD-42EA-941C-B5AE0231133F Q36841908-36162279-45B9-4EA9-9572-C50CFE6C5D92 Q36891185-28A7E376-B65D-4E4E-B9C6-FB2535A79CAB

P2860

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

http://www.wikidata.org/entity/Q21563465

description

2005 nî lūn-bûn

@nan

2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2005年の論文

@ja

2005年論文

@yue

2005年論文

@zh-hant

2005年論文

@zh-hk

2005年論文

@zh-mo

2005年論文

@zh-tw

2005年论文

@wuu

name

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@ast

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en-gb

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@nl

type

label

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@ast

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en-gb

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@nl

altLabel

Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

@en

prefLabel

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@ast

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en-gb

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@nl

P1433

Q21563465-967D4E7A-1500-4FAB-AA73-5E0F4FBB8A8A

P1476

Q21563465-81A962BA-01ED-438F-9A62-01BB8B7B2F5D

P2093

Q21563465-07603A6B-60BF-4BA7-94C4-B41CA0386432

Q21563465-0E401759-5311-4378-A183-091FBC70F6FE

Q21563465-261CEAE9-5D49-4346-94D7-BEB8CF514AAA

Q21563465-33394641-69DB-4E5C-9208-7F7ECFDB864B

Q21563465-3A980FD9-FA95-41E6-81CC-53ACD56BB7B4

Q21563465-6BD3A83E-A4BB-406F-A9E7-87AC882AC548

Q21563465-7A63F8AA-0375-4DFC-BE3F-C11C4DCD2EB2

Q21563465-95DA933C-AAC9-4997-9D18-2EBC9922316C

Q21563465-977CA04F-C1C5-43D8-AAAF-AB9840B3CB63

Q21563465-B47C30F0-F960-4DB2-AFD3-B9BFE2A7407B

P2860

Q21563465-0423D16E-4EC8-4817-A673-1D308A84102D

Q21563465-0E1FFD04-D127-4466-BE06-F4D361941672

Q21563465-118D5DAA-6AA6-4738-8D1B-CB53535D178F

Q21563465-1F60B9F3-EA4C-4A9B-A4EB-77AE133C0A6D

Q21563465-210B7275-F020-4759-A35C-DC6C6444C3B7

Q21563465-2668A2FA-DB26-440E-BE92-89135B42F444

Q21563465-287F1052-4F7F-407D-83D4-B801DD0DEC2F

Q21563465-2E35E74D-6105-44BF-B007-92E2FFD399C7

Q21563465-2E92D2C7-8739-497F-B445-339B3FF8AD11

Q21563465-360DEF1D-040B-44BB-AFE2-CE2ABB4E3672

P304

Q21563465-6B200173-F55A-4565-8200-C43D4A2F8D74

P31

Q21563465-93C86959-896B-4EBB-AFBE-B9C1F70874A1

P3181

Q21563465-D8CC1BC5-7046-4B7F-A7D9-72857654FE2C

P356

Q21563465-B4824044-7510-4687-8F0E-529E7269C483

P407

Q21563465-8E9CB130-E15C-48C1-93FF-2F1F3D9C6C27

P433

Q21563465-70EF901E-6317-4EFA-B002-547681FE3CD1

P478

Q21563465-01825D41-570D-4A49-BCD2-4C78C96D41B9

P50

Q21563465-103CB7B8-0B2A-45B7-BF27-5630C2F1426A

Q21563465-48E428B6-12DF-4690-B457-C7588F222B40

P577

Q21563465-64280AC2-6552-4DBC-82CD-9088859BD53E

P5875

Q21563465-E87A3307-187D-446A-A19F-EF5F575329D2

P698

Q21563465-619C4894-24E1-42AE-B56B-737210EA3232

P932

Q21563465-EEB2840E-E917-4BD0-85A8-C988C895D70F

P3181

P356

JOURNAL.PGEN.0010064

P1433

P1476

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

@en

P2093

Alexandre R Vieira

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

Ecaterina Dragan

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

Eduardo E Castilla

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

Fedik Rahimov

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

Iêda M Orioli

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

Jeffrey C Murray

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

Jennifer Fang

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

Jill Harrington

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

Joseph R Avila

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

Marla Johnson

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

P2860

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

MSX1 and TGFB3 contribute to clefting in South America

Role of TBX1 in human del22q11.2 syndrome

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

Sorting out the complexity of SR protein functions

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

P304

e64

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

P31

scholarly article

P3181

1420921

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

P356

10.1371/JOURNAL.PGEN.0010064

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

P407

P433

6

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

P478

1

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

P50

Sandra Daack-Hirsch

David R. FitzPatrick

P577

2005-12-01T00:00:00Z

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

P5875

7441353

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

P698

16327884

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

P932

1298935

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