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[PDF] Top 20 Comprehensive Mutation Screening in a Cystic Fibrosis Center

Has 10000 "Comprehensive Mutation Screening in a Cystic Fibrosis Center" found on our website. Below are the top 20 most common "Comprehensive Mutation Screening in a Cystic Fibrosis Center".

Comprehensive Mutation Screening in a Cystic Fibrosis Center

Comprehensive Mutation Screening in a Cystic Fibrosis Center

... to cystic fibrosis (CF), a common human genetic dis- ease, identifying the mutations that cause disease can have therapeutic consequences, because a number of allele-specific therapies are in ...of ... See full document

9

Newborn Screening for Cystic Fibrosis in California

Newborn Screening for Cystic Fibrosis in California

... CFTR mutation testing and results reporting, and they consulted on mutation panel ...CFCs, center directors, and staff clinically followed-up CF NBS-positive newborns; provided the clinical data ... See full document

13

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

... more Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations might result in quicker diagnosis and allow for earlier intervention, whereas the other might identify fewer ...the screening ... See full document

26

Improving Screening for Cystic Fibrosis–Related Diabetes at a Pediatric Cystic Fibrosis Program

Improving Screening for Cystic Fibrosis–Related Diabetes at a Pediatric Cystic Fibrosis Program

... The fact that our medical student, who was not a full-time team member, played an integral role in the planning and piloting of our efforts may raise questions about the sustainability of our initiative. To help mollify ... See full document

9

Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran

Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran

... R117H was studied almost in CBAVD subjects because CFTR mutations commonly assoc- -iated with male infertility are F508del, R117H, and the IVS8 (5T) polymorphism (28). R117H mutation severity is modulated in cis ... See full document

6

Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included in CFTR Mutation Panels?

Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included in CFTR Mutation Panels?

... (cystic fibrosis trans- membrane conductance regulator) ...the screening protocol relies on the use of a kit of 30 mutations (Elucigene CF30; Tepnel Diagnostics Ltd, Abingdon, Oxfordshire, United ... See full document

9

Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study

Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study

... CFTR mutation analysis (DNA analysis) is that there are still many more mutations which are unknown and hence, their physiological impact cannot be ...common mutation present in Caucasians, but different ... See full document

9

Newborn Screening for Cystic Fibrosis in New York State: In Reply

Newborn Screening for Cystic Fibrosis in New York State: In Reply

... In reference to the absence of a “state coordinator,” we fully agree that the Wadsworth Center has a well established team to provide assistance related to the newborn screening program. However, in our ... See full document

5

Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening

Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening

... functional mutation analysis by CFTR2, which identi fi ed 2 disease-causing mutations, led to the reassignment of the diagnosis of CF in 11% of infants with ... See full document

11

New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population

New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population

... a mutation analysis. The 32-mutation panel used was chosen by the state laboratory director because it was available as a panel for the automated equipment purchased for the laboratory (ABI PRISM 3100 ... See full document

10

Genotype-Phenotype Correlation for Cystic Fibrosis According to Registry Center of Cystic Fibrosis

Genotype-Phenotype Correlation for Cystic Fibrosis According to Registry Center of Cystic Fibrosis

... Based on the results of different studies, the patients homozygous for the ΔF508 mutation typically produce the severe type, compared to other mutations. Santos and Steemburgo (22) and Farra et al (2) reported the ... See full document

6

Cystic fibrosis overview and update on infant care

Cystic fibrosis overview and update on infant care

... newborn screening in all 50 states as of 2010 [37], and the recommendation from the American College of Obstetricians and Gynecologists for carrier screening, CF diagnosis is now occurring at an earlier age ... See full document

10

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis

... nonsense mutation that leads to exon skipping and the activation of a cryptic ...exon. Screening of genomic DNA from 700 German patients with CF uncovered four cases with the nonsense mutation E92X, ... See full document

9

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

... 0.24, with non-CF values < 0.82 in our Center (Figure 2). Two consecutive sweat tests were carried out 3 months apart (on May and July) in accordance with the Gibson and Cooke method [11] and chloride values of ... See full document

7

Case Report Chinese data of the CFTR mutation: a report from West China Hospital and literature review

Case Report Chinese data of the CFTR mutation: a report from West China Hospital and literature review

... objective: Cystic fibrosis (CF) is a serious genetic disorder that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) ...CFTR mutation in the ... See full document

9

NonTuberculous Mycobacteria infection and lung transplantation in cystic fibrosis: a worldwide survey of clinical practice

NonTuberculous Mycobacteria infection and lung transplantation in cystic fibrosis: a worldwide survey of clinical practice

... States Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) emphasize the need to thoroughly evaluate patients with CF for NTM as part of the lung transplant ... See full document

5

The Immunogenicity and Safety of Rsv Vaccines in Development: A Systematic Review

The Immunogenicity and Safety of Rsv Vaccines in Development: A Systematic Review

... Immunogenicity of a new purified fusion protein vaccine to respiratory syncytial virus: a multi-center trial in children with. cystic fibrosis[r] ... See full document

23

A prospective pilot study of home monitoring in adults with cystic fibrosis (HOME CF) : protocol for a randomised controlled trial

A prospective pilot study of home monitoring in adults with cystic fibrosis (HOME CF) : protocol for a randomised controlled trial

... Abbreviations BMI: Body mass index; CF: Cystic fibrosis; CFQ-R: Cystic fibrosis questionnairerevised; CFRSD-CRISS: Cystic fibrosis respiratory symptom diary – chronic respiratory infecti[r] ... See full document

8

A non-randomised single centre cohort study, comparing standard and modified bowel preparations, in adults with cystic fibrosis requiring colonoscopy

A non-randomised single centre cohort study, comparing standard and modified bowel preparations, in adults with cystic fibrosis requiring colonoscopy

... population-based screening programs in many countries and often based on faecal immunochemical testing (FIT) for people > 50 years of age ...CRC screening methods; in this high-risk group of patients has ... See full document

6

Buccal Cell DNA Mutation Analysis for Diagnosis of Cystic Fibrosis in Newborns and Infants Inaccessible to Sweat Chloride Measurement

Buccal Cell DNA Mutation Analysis for Diagnosis of Cystic Fibrosis in Newborns and Infants Inaccessible to Sweat Chloride Measurement

... CFTR mutation analysis using buccal cell DNA collected by ...CFTR mutation, and subsequently confirmed when SC could be ...DNA mutation analysis allowed for earlier initiation of therapy, minimiza- ... See full document

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