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Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 432, doi. 10.1007/s004390000266
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- Publication type:
- Article
Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer.
- Published in:
- International Journal of Cancer, 1999, v. 80, n. 1, p. 25, doi. 10.1002/(SICI)1097-0215(19990105)80:1<25::AID-IJC6>3.0.CO;2-G
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- Publication type:
- Article
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.
- Published in:
- Molecular Diagnosis & Therapy, 2023, v. 27, n. 4, p. 525, doi. 10.1007/s40291-023-00656-z
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- Publication type:
- Article
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 deletions.
- Published in:
- BMC Biotechnology, 2003, v. 3, p. 18, doi. 10.1186/1472-6750-3-18
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- Publication type:
- Article
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41940-5
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- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1358, doi. 10.1093/hmg/dds546
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- Publication type:
- Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 776, doi. 10.1093/hmg/ddr509
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- Publication type:
- Article
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.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 132, doi. 10.1002/gcc.10191
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- Publication type:
- Article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 191, doi. 10.3390/genes14010191
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- Publication type:
- Article
The Role of Csmd1 during Mammary Gland Development.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 162, doi. 10.3390/genes12020162
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- Publication type:
- Article
Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’.
- Published in:
- 2006
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- Publication type:
- Letter
SLC38A8 mutation spectrum in foveal hypoplasia.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.208
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- Publication type:
- Article
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project.
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- 2022
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- Publication type:
- Abstract
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
- Published in:
- Molecular Vision, 2022, v. 28, p. 48
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- Publication type:
- Article
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
- Published in:
- Molecular Vision, 2022, v. 28, p. 57
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- Publication type:
- Article
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
- Published in:
- Genes, 2018, v. 9, n. 1, p. 21, doi. 10.3390/genes9010021
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- Publication type:
- Article
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 5, doi. 10.1002/ajmg.c.31965
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- Publication type:
- Article
Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104281
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- Publication type:
- Article
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 421, doi. 10.1038/70525
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- Publication type:
- Article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 5, p. 476, doi. 10.1111/j.1442-9071.2012.02804.x
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- Publication type:
- Article
Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 121, n. 3, p. 555, doi. 10.1007/s10549-009-0500-4
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- Publication type:
- Article
Cover, Volume 42, Issue 2.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. ii, doi. 10.1002/humu.24169
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- Publication type:
- Article
New variants and in silico analyses in GRK1 associated Oguchi disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 164, doi. 10.1002/humu.24140
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- Publication type:
- Article
DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. 1359, doi. 10.1002/humu.21597
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- Publication type:
- Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282
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- Publication type:
- Article
Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion.
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- Oncology Reports, 2017, v. 38, n. 1, p. 283, doi. 10.3892/or.2017.5656
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- Publication type:
- Article
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2164
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- Publication type:
- Article
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 13, p. 1369, doi. 10.1093/hmg/10.13.1369
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- Publication type:
- Article
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1369
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- Publication type:
- Article
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 963
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- Publication type:
- Article
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
- Published in:
- 2022
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- Publication type:
- journal article