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Reproduction Function in Male Patients With Bardet Biedl Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8657, doi. 10.3390/ijms25168657
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
Mutation spectrum and splicing variants in the OPA1 gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 584, doi. 10.1007/s00439-001-0633-y
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- Publication type:
- Article
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
- Published in:
- Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00070
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- Publication type:
- Article
Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
An ontological foundation for ocular phenotypes and rare eye diseases.
- Published in:
- 2019
- By:
- Publication type:
- letter
Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.
- Published in:
- Molecular Biology & Evolution, 2017, v. 34, n. 8, p. 2016, doi. 10.1093/molbev/msx146
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- Publication type:
- Article
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 1, p. 81, doi. 10.1007/s10038-005-0320-2
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- Publication type:
- Article
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 491, doi. 10.1093/hmg/ddt439
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- Publication type:
- Article
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 719, doi. 10.1093/hmg/ddq517
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- Publication type:
- Article
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13586, doi. 10.1038/ncomms13586
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- Publication type:
- Article
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2085, doi. 10.1093/brain/awae055
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- Publication type:
- Article
Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance.
- Published in:
- 2021
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- Publication type:
- journal article
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8729, doi. 10.3390/ijms24108729
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- Publication type:
- Article
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4294, doi. 10.3390/ijms23084294
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- Publication type:
- Article
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6410, doi. 10.3390/ijms22126410
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- Publication type:
- Article
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net.
- Published in:
- Ophthalmic Research, 2023, v. 66, n. 1, p. 550, doi. 10.1159/000528716
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- Publication type:
- Article
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 6, p. 293, doi. 10.1159/000366252
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- Publication type:
- Article
One NF1 Mutation may Conceal Another.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 633, doi. 10.3390/genes10090633
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- Publication type:
- Article
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 584, doi. 10.1038/ejhg.2011.234
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- Publication type:
- Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
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- Publication type:
- Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- 2010
- By:
- Publication type:
- Correction notice
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1145, doi. 10.1038/sj.ejhg.5201891
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- Publication type:
- Article
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
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- Publication type:
- Article
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 773, doi. 10.1038/sj.ejhg.5201611
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- Publication type:
- Article
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 4, p. 418, doi. 10.1038/sj.ejhg.5201593
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- Publication type:
- Article
Improved performance and safety from Argus II retinal prosthesis post‐approval study in France.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 7, p. e1212, doi. 10.1111/aos.14728
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- Publication type:
- Article
Non‐invasive, needle‐free drug delivery for treatment of retinal degeneration on Bardet‐Biedl syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5396
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- Publication type:
- Article
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
- Published in:
- Nature Genetics, 2014, v. 46, n. 12, p. 1283, doi. 10.1038/ng.3122
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- Publication type:
- Article
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1135, doi. 10.1038/ng1644
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- Publication type:
- Article
Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009.
- Published in:
- Fetal Diagnosis & Therapy, 2015, v. 37, n. 1, p. 6, doi. 10.1159/000362663
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- Publication type:
- Article
Dermatologic Findings in 16 Patients With Cockayne Syndrome and Cerebro-Oculo-Facial-Skeletal Syndrome.
- Published in:
- JAMA Dermatology, 2013, v. 149, n. 12, p. 1414, doi. 10.1001/jamadermatol.2013.6683
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
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- Publication type:
- Article
ROSAH syndrome mimicking chronic uveitis.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 453, doi. 10.1111/cge.14286
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- Publication type:
- Article
In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet–Biedl syndrome.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 5/6, p. 573, doi. 10.1111/cge.14122
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- Publication type:
- Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123
- By:
- Publication type:
- Article
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872
- By:
- Publication type:
- Article
High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 166, doi. 10.1111/cge.13768
- By:
- Publication type:
- Article
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500
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- Publication type:
- Article
Table ronde 1 État des lieux après 10 ou 15 ans d'actions pour les maladies rares.
- Published in:
- Médecine Sciences, 2016, v. 32, p. 8, doi. 10.1051/medsci/201632s103
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- Publication type:
- Article
Conférence inaugurale Point sur le 2<sup>e</sup> Plan National Maladies Rares.
- Published in:
- Médecine Sciences, 2016, v. 32, p. 5, doi. 10.1051/medsci/201632s102
- By:
- Publication type:
- Article
Syndrome de Bardet-Biedl: cils et obésité: De la génétique aux approches intégratives.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 11, p. 1034, doi. 10.1051/medsci/20143011018
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- Publication type:
- Article
Une nouvelle forme d'amaurose congénitale de Leber Défaillance de la neuroprotection des photorécepteurs et des cellules ganglionnaires de la rétine.
- Published in:
- Médecine Sciences, 2013, v. 29, n. 1, p. 26, doi. 10.1051/medsci/2013291008
- By:
- Publication type:
- Article
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 835, doi. 10.1007/s00415-023-12017-1
- By:
- Publication type:
- Article
AnnotSV: an integrated tool for structural variations annotation.
- Published in:
- Bioinformatics, 2018, v. 34, n. 20, p. 3572, doi. 10.1093/bioinformatics/bty304
- By:
- Publication type:
- Article
Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption.
- Published in:
- Kidney International, 2011, v. 79, n. 9, p. 1013, doi. 10.1038/ki.2010.538
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- Publication type:
- Article
Together4RD position statement on collaboration between European reference networks and industry.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02853-9
- By:
- Publication type:
- Article