Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. - Wikidata - awgldk - TriplyDB

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

http://www.wikidata.org/entity/Q37220091

about

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations Chromosome abnormalities and the genetics of congenital corneal opacification.Mutation spectrum of PAX6 in Chinese patients with aniridia.Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.Corneal transparency: genesis, maintenance and dysfunction The transcription factor c-Maf in sensory neuron development.Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.Comparison of the toxicity of silver, gold and platinum nanoparticles in developing zebrafish embryos.

P2860

Q30481939-5ED073D8-332F-4255-A6B4-7CB8AD12F154 Q34328168-1A5A8630-96F1-4108-B907-A1862D0D845C Q35068028-F336AEAB-53C4-4491-9A0B-ED8ADA196572 Q35166631-FD8184C7-2295-4CCB-96B3-4097C8211147 Q35899337-E0A1844F-45E0-459C-AFF2-E25E8E7688F5 Q37500924-2591D483-3DBA-4ECB-8655-CFA3B4948D88 Q39942764-BE57C624-1DE6-4200-87DB-0315398A29B6 Q47248708-33DDA39B-99E5-4722-8F9C-5E8A473AAC55 Q51886312-38F72654-BB97-4FD6-9DA8-7509B93E45DB

P2860

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

http://www.wikidata.org/entity/Q37220091

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on August 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@en

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@nl

type

label

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@en

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@nl

prefLabel

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@en

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@nl

P1433

Q37220091-D2170EC6-2D59-4F53-BE83-4672C5EA2523

P1476

Q37220091-5E169167-E2AA-4DCF-A3CB-33BDB4020D15

P2093

Q37220091-17626245-91A7-4ACE-8E20-2D1C3CEA3016

Q37220091-20242875-09A6-49D5-A23E-F4DF8B51AF12

Q37220091-23953D85-4732-4260-A40E-51B9E006FBD0

Q37220091-3D796675-1A75-42D8-B9A4-C106152B12C9

Q37220091-3FA40CEC-7A1A-4742-98FF-00242E011251

Q37220091-92A7AC86-4F2A-4DF9-A6CD-267FA716C157

Q37220091-C72621CA-4A5A-435A-81EC-92B4AF23860C

P2860

Q37220091-0AC27F9A-22CF-45EC-B12E-A9C31253AC2B

Q37220091-1157CADB-83E1-40B8-AC95-A395ED2849E7

Q37220091-1D9B8775-CCCB-494D-976D-619D88A07E7C

Q37220091-1E0D2386-D76C-426B-ABD8-0F50B55E3F84

Q37220091-1F12A0A8-F2D3-46E1-BC51-E9101DC040C4

Q37220091-23D2E56D-84C6-4119-B8A7-4C866DE39D93

Q37220091-34242AEA-05A4-4C2A-9F5C-4A78054DF755

Q37220091-35C025EC-C0D2-4074-8E34-AC8A7421EBC0

Q37220091-39B368D2-B705-405C-9B2D-046F5596A5A2

Q37220091-3B7CBF3E-BDCE-452B-BCD1-59DDAF6CB8FF

P304

Q37220091-5899F52B-824A-4A1F-9C5D-DCCD7E4A725A

P31

Q37220091-57FA001F-4DD5-41C9-B27E-8FE9E57FB60E

P356

Q37220091-35F7CA52-258A-4C44-A5C2-7CE464FFF110

P407

Q37220091-9EF130F2-057E-4184-9FC7-C8A395545FF7

P433

Q37220091-2B61C33F-73E3-404C-B6DA-66050547DA52

P478

Q37220091-29F9396C-38A5-4C36-9761-4E13134FE116

P50

Q37220091-55CEACFF-E5F8-4C10-B061-EFF6F6F4E5FB

Q37220091-5ED6E031-6054-4739-93F1-93CC2C1B663F

P577

Q37220091-11FDE75A-1F85-4E66-BFDB-61B6FAB7CC93

P5875

Q37220091-F7DD14E9-D6D6-4B8D-9DBF-677D73709068

P698

Q37220091-3AAA5192-9A0F-48A8-8115-0EC82C27BF9C

P356

P1433

Twin Research and Human Genetics

P1476

Chromosomal rearrangements and ...... opment, cataract and glaucoma.

@en

P2093

Christina Rudduck

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

Frank Billson

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

Greg B Peters

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

Luke St Heaps

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

Maree Flaherty

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

Marija Mihelec

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

Patrick P L Tam

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

P2860

Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Heterozygous mutations of OTX2 cause severe ocular malformations

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

BMP4 is essential for lens induction in the mouse embryo

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

P304

412-421

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

P31

scholarly article

P356

10.1375/TWIN.11.4.412

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

P407

P433

4

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

P478

11

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

P50

Robyn V Jamieson

P577

2008-08-01T00:00:00Z

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

P5875

51411989

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

P698

18637741

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