about
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeA genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosisLarge genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeFirst molecular screening of deafness in the Altai Republic population.Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assayAre p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?Molecular epidemiology of DFNB1 deafness in FranceA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units.Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndromeA balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivoTime for a unified system of mutation description and reporting: a review of locus-specific mutation databases.Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsIdentification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 geneHomozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangementsNew multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?The USH2A c.2299delG mutation: dating its common origin in a Southern European population.Heterozygous TGFBR2 mutations in Marfan syndromeDisuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.Phosphorylated C/EBPβ influences a complex network involving YY1 and USF2 in lung epithelial cells.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.FUBP1: a new protagonist in splicing regulation of the DMD geneFunctional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingNonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.Assessment of the latest NGS enrichment capture methods in clinical context.Molecular pathology of the CFTR locus in male infertility.Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis.Towards a European consensus for reporting incidental findings during clinical NGS testing.WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.Association of bone morphogenetic proteins with otosclerosis.Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
P50
Q24309592-A766AA05-DDE2-4A9C-9FEA-463691A7E589Q24644560-7B469115-1CB2-43AC-B429-10461BF53EB5Q24652829-CA1C6DD5-5731-4DF7-867F-EDBFE30D8B9EQ24793743-B94C4BB5-4785-41EC-9BB7-4A4E6D6C34CCQ24796615-8998586C-231B-4851-A2A2-63F51C3EEAC1Q24798208-16315B0A-9A34-469C-9B94-D73AF688C6F7Q24803748-6EF23E7E-6DDC-44B8-B86D-F8343D956D7FQ28207515-27A219B6-9BCB-492A-9BF8-D3AC6E35D750Q33890641-4DCAE693-6EDB-4E3C-A6DE-FCAA17B249F1Q33894804-F89AD747-4E6A-4FCA-9480-C4BB6A89BBF7Q34084248-866CA316-DE92-4D60-97EC-5EEE7D403B2AQ34127341-BAB54F44-AE5F-4CA8-AA21-6FA3B9CD7F10Q34325346-4E48CC9A-C8B4-4644-B57F-ED56CD80929FQ34327023-35BA3DAE-2234-4926-A59E-630D85D130F8Q34327290-BE2BDA62-69EF-4AB6-B67C-3EC28817BF41Q34328110-9E3A544C-D4BF-49C0-B1A0-368EACCE4D66Q34329087-E0DE6A09-7C78-4553-A81D-9C649C136AD1Q34329270-327B3ED3-A80B-497C-8180-76704C6E866CQ34331334-7422FECB-866C-42FE-8ECE-BF6B5079B469Q34333475-C48BDE22-725F-430C-9AAB-007935F5FBCFQ34576284-F7B53CD9-29C2-4A58-BCAA-78F05AD17836Q34656334-9D131EA7-EE56-4BB4-BBD8-0841BE361793Q34973311-7DCF66AB-9CA5-4A3E-8A7A-4EF29F8BFF30Q35131165-26684ED9-2162-4CCC-ADAF-9D95CBC8F9CFQ35679715-D5DEB0A5-B476-46B8-8835-E5A5235F5CACQ35722221-0453B39C-16F8-4BCE-B05A-71EA102663B6Q35748724-2AEBAB1C-2D2F-4E42-BD15-03D883BDA96EQ35920164-2DACADF4-7996-4C7A-8C71-539237D52693Q36037679-CAF87EE8-FB2D-4B55-A7AF-896279C8492BQ36079590-64BC159D-D6EA-4956-9E9B-4046D01E8E49Q36150125-D45748C6-64D9-44CA-A67E-E2987CF31928Q36253442-8CF4A828-DD46-4739-BE1B-D6A23701E3A6Q36253474-9F2033E6-FB61-490B-BF33-126EFDB9544DQ36271214-D68494C5-B9BC-4E8D-BE6A-519F3EB7A3C1Q36695676-C58E3C90-B12C-41B6-A194-145462254BE4Q36944273-875573CB-8FFB-4978-854D-8C0BE741AD11Q37114821-1F5494CB-5F42-427B-8EEB-F4B7D5755DA8Q37158695-0418BC02-D277-4AB6-A235-8EBFE353AE71Q37396900-C7C9F229-4831-4723-8667-9F8C612230EEQ37493098-980FBABE-8D8D-44A7-95DE-99E676BC39D4
P50
name
Mireille Claustres
@ast
Mireille Claustres
@en
Mireille Claustres
@nl
type
label
Mireille Claustres
@ast
Mireille Claustres
@en
Mireille Claustres
@nl
prefLabel
Mireille Claustres
@ast
Mireille Claustres
@en
Mireille Claustres
@nl