about
sameAs
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletionsIdentification of microcephalin, a protein implicated in determining the size of the human brainZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureMutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeMutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationDeletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of diseaseLoss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosisSpectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophyAberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndromeAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesMutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Analysis of candidate genes for macular telangiectasia type 2Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaGenetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityFurther evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigreeNext generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5The role of the Met98Lys optineurin variant in inherited optic nerve diseasesNull mutations in LTBP2 cause primary congenital glaucoma.Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion.Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
P50
Q21256663-1E88A23D-4DEB-42DA-BCD9-F103572F40A9Q22337169-35F51EC2-01EF-4CF9-AF6D-FA64AB53813BQ22337169-95CEB982-8808-4C7C-A0E0-54E4C0E8E16FQ24293837-4533CEE1-2081-4620-BA04-A90904C420E2Q24296426-C1C5AE7B-4BDE-4A89-B6C7-8A1F3CDFD6D0Q24317292-7FF0B207-71DC-40FB-8ACB-374B048E3F65Q24337618-69C51B7B-7F63-4406-9973-89905291437CQ24624430-BC0C0CC2-3187-4572-85AD-76309A561C52Q24679112-7036DEEB-FC10-41B1-873F-0B4899CA7FFAQ28139155-2F2E2068-3B8E-449A-8DBF-7FBD2A275D35Q28205031-94F12B30-A2D4-45A5-A8F6-A379C8C78CF0Q28591420-3DDDD9E5-6093-4277-893B-F7C9BB365A21Q29144923-310946DE-833F-45D3-852F-53F6879D90D1Q33645980-246EDBC5-00FE-4016-97EE-494FC2966AB0Q34014694-66ED4A0D-523C-4659-B2A2-8855C20D13E5Q34061577-0ECAB2F2-B264-4DAC-9ED3-F679F269C2F5Q34190668-0BF10A96-263A-467F-A7AF-96A6A247A36BQ34291576-314DF920-3D35-4D78-99B3-9708C0EEC492Q34329840-44C1373B-6559-4CAF-9426-3800C15E1D57Q34331533-6CA835AD-9342-4039-81D4-631A573985DBQ34410734-0826038B-9A4B-498A-A27E-1670ACEF4911Q35169723-281B7293-6090-497A-974E-BF94E294790DQ35204968-58E9A67E-AA2F-4AE7-B8E8-ED39EA9638ABQ35221064-FAC17C52-B75F-43E2-AE7E-9B90CEBF0795Q35592879-812BE5E0-0EF1-44A7-AC6C-093E0E398F8FQ35688641-E4A0C1E4-CA28-454C-A65C-7C58A36B4BABQ35762505-7A7B4AF2-4A7F-4C11-9907-22ABA2EFE372Q35762674-EB2975DD-7AA2-48CC-8C42-73F0892A1C1EQ37189121-3D66BBE4-5C6F-4523-9898-8B9F60975BF4Q37189157-BE66B7D3-8ED5-4D00-A287-1101458ADC24Q37278506-1371CA6F-FE4F-47C2-8121-3978554BFACBQ37369031-2DC163DF-CFB7-4B5D-8A1B-6A433FDFDC45Q38009067-D5F33481-3DBC-4E6E-A9E4-ECEABBDADA75Q38331774-8D087D2B-301A-470A-BB53-6B94FFC523AAQ38408689-19D4FF05-EAFA-4A2C-A6F8-82D8C5647DE8Q38702590-79893A2F-D0BA-4FD6-BAF7-D6EA92499764Q38740567-845E4326-DC80-4AE2-9EFB-2290A119407AQ38925841-DF735323-D2F1-41FA-8406-A884610EB2B0Q38933163-09944601-EE66-4090-B4D7-93F3B17E2D0DQ38973831-0D4CDAF8-CBE8-4EFD-B8AB-9643686B92A6
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
researcher
@en-gb
հետազոտող
@hy
name
Carmel Toomes
@ast
Carmel Toomes
@br
Carmel Toomes
@ca
Carmel Toomes
@cs
Carmel Toomes
@cy
Carmel Toomes
@da
Carmel Toomes
@de
Carmel Toomes
@de-at
Carmel Toomes
@de-ch
Carmel Toomes
@en
type
label
Carmel Toomes
@ast
Carmel Toomes
@br
Carmel Toomes
@ca
Carmel Toomes
@cs
Carmel Toomes
@cy
Carmel Toomes
@da
Carmel Toomes
@de
Carmel Toomes
@de-at
Carmel Toomes
@de-ch
Carmel Toomes
@en
altLabel
C Toomes
@en
C Toomes
@nl
C. Toomes
@en
C. Toomes
@nl
prefLabel
Carmel Toomes
@ast
Carmel Toomes
@br
Carmel Toomes
@ca
Carmel Toomes
@cs
Carmel Toomes
@cy
Carmel Toomes
@da
Carmel Toomes
@de
Carmel Toomes
@de-at
Carmel Toomes
@de-ch
Carmel Toomes
@en
P106
P1153
6701849098
P2002
Carmel_eyeTN
P2031
1995-01-01T00:00:00Z
P2070
carmel-toomes-8347
P21
P31
P496
0000-0001-8373-9545