265 results on '"Bieth E"'
Search Results
2. Genetic counseling for cystic fibrosis: A basic model with new challenges
3. Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation
4. The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
5. Medical, psychological and social features in a large cohort of adults with Prader–Willi syndrome: experience from a dedicated centre in France
6. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome
7. A molecular approach to dominance in hypophosphatasia
8. Duplications XQ28 and hemophilia are questionable for genetic counselling: PO-MO-140
9. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
10. Twenty-five novel mutations including duplications in the ATP7A gene
11. WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database
12. Software solutions for sensitivity studies in design of tunnels
13. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
14. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
15. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
16. CFTR MUTATION SPECTRUM IN 800 FRENCH CYSTIC FIBROSIS (CF) SCREENED NEWBORNS: 564
17. A FRENCH COLLABORATIVE STUDY INDICATIVE OF A VERY LOW CLASSICAL-CF PENETRANCE OF R117HT7; IMPLICATIONS FOR GENETIC COUNSELING: 218
18. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
19. A New Large CFTR Rearrangement Illustrates the Importance of Searching for Complex Alleles
20. Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
21. Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
22. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome
23. P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants
24. Hamartome épidermique à type d’acanthosis nigricans : vers une corrélation phénotype–génotype ?
25. Étude du gène CFTR chez 207 patients du Sud-Ouest de la France atteints de mucoviscidose : fréquence élevéedes mutations N1303K et 1811+1,6kbA>G
26. WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification
27. Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases
28. WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations
29. WS15.1 CysMA, a new tool for the interpretation of rare CFTR missense variants
30. Syndrome de l’X fragile et anomalies de la substance blanche : à propos d’une fratrie
31. Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation
32. Le syndrome de Van der Woude : une entité clinique méconnue
33. Familial pleural fibrosis with ocular telangiectasia and male infertility: a new syndrome?
34. Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
35. 4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience
36. Syndrome branchio-oculo-facial
37. Ichtyose en confettis : caractérisation clinique et moléculaire de 3 nouveaux patients
38. Ichtyose en confettis : caractérisation clinique et moléculaire de 3 nouveaux patients
39. Acanthosis nigricans nævoïde ou « RAVEN » : trois cas
40. P.329 - Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases
41. Medical, psychological and social features in a large cohort of adults with Prader–Willi syndrome: experience from a dedicated centre in France
42. Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe
43. Syndrome du nævus épidermique lié à la mutation p.Ser249Cys du gène FGFR3 associé à un mosaïcisme urothélial
44. A molecular approach of dominance in hypophosphatasia
45. P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
46. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
47. WS21.6 A novel 5′ alternative CFTR mRNA isoform may be a cause of CFTR dysfunction in a patient with nasal polyposis
48. Phone information and counseling about autism in Paris area during the year 2011
49. WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database
50. WS8.4 Consequences of partial duplications of the human CFTR gene on CF diagnosis: mutations or ectopic variations
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