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37 results on '"Laboratoire de Génétique Moléculaire et d'Histocompatibilité [Brest]"'

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1. Transformation d’un mélanocytome méningé en mélanome : étude clinique, histopathologique et cytogénétique

2. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

3. Low incidence of EPOR mutations in idiopathic erythrocytosis

4. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

5. CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

6. MOSAICISM IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE : A COMPREHENSIVE CLINICAL AND RADIOLOGICAL DESCRIPTION OF 15 CASES

7. Toward a clinical diagnostic pipeline for SPINK1 intronic variants

8. [Meningeal melanoma arising from a preexisting meningeal melanocytoma: A clinical, pathological and cytogenetic study about one case]

9. Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

10. Polynucleotide transport through lipid membrane in the presence of starburst cyclodextrin-based poly(ethylene glycol)s

11. HLA-DRB3/4/5 mismatches are associated with increased risk of acute GVHD in 10/10 matched unrelated donor hematopoietic cell transplantation

12. Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study

13. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene

14. Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening

15. The double life of the ribosome: When its protein folding activity supports prion propagation

16. A misleading false-negative result of Pneumocystis real-time PCR assay due to a rare punctual mutation: A French multicenter study

17. Nouvelles perspectives dans l'atteinte spécifique du langage présentée par les patients ARX et la dysrégulation sous-jacente de FOXP1

18. Protein folding activity of the ribosome: Key player in yeast prion propagation

19. Revisiting the molecular epidemiology of factor XI deficiency: Nine new mutations and an original large 4qTer deletion in western Brittany (France)

20. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

21. Is there any impact of HLA-DPB1 disparity in 10/10 HLA-matched unrelated hematopoietic SCT? Results of a French multicentric retrospective study

22. Pneumocystis jirovecii in the air surrounding patients with Pneumocystis pulmonary colonization

23. A small de novo 16q24.1 duplication in a woman with severe clinical features

24. Syndrome myéloprolifératif avec polyglobulie et translocation t(6;8)(q27;p11) : cas clinique et revue de la littérature

25. A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients

26. Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.

27. Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage.

28. Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples.

29. HLA-DRB3/4/5 mismatches are associated with increased risk of acute GVHD in 10/10 matched unrelated donor hematopoietic cell transplantation.

30. A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel.

31. Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice.

33. Severe hydrocephalus caused by diffuse leptomeningeal and neurocutaneous melanocytosis of antenatal onset: a clinical, pathologic, and molecular study of 2 cases.

34. NRAS (Q61R), BRAF (V600E) immunohistochemistry: a concomitant tool for mutation screening in melanomas.

36. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

37. Biophysical characterisation of calumenin as a charged F508del-CFTR folding modulator.

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