Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations - Wikidata - awgldk - TriplyDB

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

http://www.wikidata.org/entity/Q34325346

about

Tobramycin Inhalation Powder (TIP): An Efficient Treatment Strategy for the Management of Chronic Pseudomonas Aeruginosa Infection in Cystic Fibrosis Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard.A simple, fast and inexpensive method for mutation scanning of CFTR gene A template for mutational data analysis of the CFTR gene.Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France.Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies Jejunoileal atresia and cystic fibrosis: don't miss it p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele Integration of an OWL-DL knowledge base with an EHR prototype and providing customized information.SNaPshot assay for the detection of the most common CFTR mutations in infertile men.Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis Quality standards and samples in genetic testing.Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.Guidelines for the genetic diagnosis of hereditary recurrent fevers.The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.Tobramycin inhalation powder: an efficient and efficacious therapy for the treatment of Pseudomonas aeruginosa infection in cystic fibrosis.Cystic fibrosis: a look into the future of prenatal screening and therapy.Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study.Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.Customer satisfaction survey to improve the European cystic fibrosis external quality assessment scheme.Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran.Screening for cystic fibrosis in New York State: considerations for algorithm improvements.Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

P2860

Q26829604-768B6EAB-F7B6-49C8-A624-609FCF1E16CC Q28479231-9D573E43-BEC3-4392-960A-E17161C54CFA Q28658587-E067CFDC-E5ED-4590-8C5C-644C7AF2874D Q30391597-E901E4A1-C365-4721-B24F-CCCA0F44BF04 Q31031345-703F441A-F307-4D9D-8C91-B43B1A7E623F Q33730586-0A25F7FB-4485-47D0-8C12-3DE0C2EACA5B Q33917285-67562D83-EFEA-4697-8AE5-B6CD98EA63CB Q34030917-F1396474-CB81-463B-8735-262F766D8813 Q34293992-BFD34F0A-BC50-4DE7-878B-F1819B1E6962 Q34309448-4E58BEF3-F3D1-4198-A7AF-5F869E9D7BFA Q34329619-A911D774-CE21-423A-AE0A-CC1D6A23CE9B Q34329636-8BCEEA5B-7CCF-4DF7-B09C-90F2CCF07BFD Q34503097-64BDDF64-A51D-48C9-9EB6-68C9B3C653D5 Q34576284-DBBF643B-4CA7-41E8-83A4-9893A6063ED6 Q34728517-5C895BD4-4A7C-400A-992F-DE10CFE1198B Q35169295-78FF939D-B1D1-496A-B308-199C49CFB6CD Q35199944-E7509039-EFBD-42E4-9AF1-31F2DA7A1755 Q35201866-9915802E-913A-4EB2-884F-1C23DBCB7921 Q35409860-913FC372-2D9B-4B40-A8CF-0D16C6E63171 Q35798854-53FC3D88-59BD-4E4B-BBD1-F33AE23B3D22 Q35855673-D0F6B128-4186-46ED-B467-C1CC905268CD Q35914939-2922E667-B665-40B4-86EC-6152226EBB89 Q35930296-AFBF239D-C437-4FFB-B2ED-687DB06326D4 Q36026682-F9BD7087-7793-4F4D-B56F-5E34CBB8C10C Q36406233-D0A9722C-5B5C-455E-9C08-445483FF9842 Q36635133-FD0F5F5C-1DE0-4573-9AE0-5A4A5FBF2F51 Q37557318-390A3F9B-E3E8-4A84-8266-76161D079BDA Q37642982-F583A1DE-8A69-4F3F-B4C6-C98BB5A49CFA Q38079179-9ADD230B-2498-4DC9-8D14-70B9A964DB35 Q38135327-91DC6EB1-552B-4D76-B965-4D1413B3F5AE Q38358856-8F594508-0519-4950-9CE2-E6AA1655879F Q38395133-17C668E2-58F9-4580-9908-5258DC4C0B58 Q38868181-5889089A-29BE-4489-831A-331F42C8C5CF Q38916681-EE71C29F-ED13-4F0A-840E-0A2DBA71C389 Q39000632-2D421A0E-4E48-4095-831C-3D7968D6A112 Q39708458-AD05EEE7-3BCE-4250-B2BE-981735902DE5 Q39740611-CBD66907-6785-4236-933A-EEAA2233F6D6 Q39778790-4E366CD8-85EF-432E-A1FA-4486E2F04150 Q41465560-A7ACF346-6035-4F72-91AF-F7E0A623B94A Q41708880-F5DD7658-0937-4D9D-85D9-B44E1A7A3FE3

P2860

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

http://www.wikidata.org/entity/Q34325346

description

2008 nî lūn-bûn

@nan

2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Best practice guidelines for m ...... dated European recommendations

@ast

Best practice guidelines for m ...... dated European recommendations

@en

Best practice guidelines for m ...... dated European recommendations

@nl

type

label

Best practice guidelines for m ...... dated European recommendations

@ast

Best practice guidelines for m ...... dated European recommendations

@en

Best practice guidelines for m ...... dated European recommendations

@nl

prefLabel

Best practice guidelines for m ...... dated European recommendations

@ast

Best practice guidelines for m ...... dated European recommendations

@en

Best practice guidelines for m ...... dated European recommendations

@nl

P1433

Q34325346-B6CBB907-CF93-4CDC-B95E-C22F3691BF1A

P1476

Q34325346-F12A463D-3880-4925-84FD-A1C0E3A17369

P2093

Q34325346-2F29A57D-8F86-44D8-B939-6D2DC6959FA8

Q34325346-6AF296C3-E9D6-4A95-9606-01224FAFD273

Q34325346-77A9D7A5-EE71-4939-8706-EDD7CDA50A58

Q34325346-7F1E8FCA-FD74-41D3-9E6C-DF4C7081138F

Q34325346-8001AD26-3F7D-432B-8775-34124AF8B692

Q34325346-88B38EA4-5E26-42E7-A331-5C62A05DA5C9

Q34325346-99D6E74C-0FDA-410F-9AB1-4A7E31D98118

Q34325346-9FBD4186-5785-4DC6-9CC1-19262FE57320

Q34325346-A694C177-C702-4647-83B4-E56250CF5323

Q34325346-A9F00606-BE84-4B04-A629-69DFA0DC8E0C

P2860

Q34325346-03691CC6-C707-410D-AB0F-D3B0B0AED7ED

Q34325346-0B15A7BD-680A-422D-AE3B-EECAEE21C29A

Q34325346-13AD13C3-D873-4A9B-9206-11859EA48834

Q34325346-13BD0921-B7D0-450C-B7AC-8884DA2F7E5D

Q34325346-14328273-C305-4327-8667-877BCE36517E

Q34325346-1C68AE8B-C728-4DBB-A19F-578E9E802DEA

Q34325346-1DEFF944-6A95-4901-85B1-B41B806C3D10

Q34325346-20B5E6D8-3471-41E9-AEB1-17A87E4E3080

Q34325346-234E719D-B084-47D1-ABE2-87A655CE81B2

Q34325346-372612EA-EC8F-48DF-B1E5-1A7625C0CC28

P2888

Q34325346-0B3532EE-B29A-4F33-8F08-E9B8CC85469D

P304

Q34325346-194DDC2A-3439-4F29-BEAB-984980FAFDF8

P31

Q34325346-A6A39CB9-8B3A-45EB-B9D2-12A1746442BB

P356

Q34325346-D8364876-6E76-4CDE-9B7E-0A6518D5FAED

P433

Q34325346-C8F81687-66B8-4689-BC75-9063D61B87DB

P478

Q34325346-B05FB1B4-1016-4891-B454-5809D6946555

P50

Q34325346-4E48CC9A-C8B4-4644-B57F-ED56CD80929F

Q34325346-ACF1BFFF-528B-4652-9D66-DCA39F423207

Q34325346-E4892858-839D-4ABA-AF69-8E3205E771A6

P577

Q34325346-11DEA0F3-D63B-4218-9DB5-F27460FDC643

P5875

Q34325346-13CB6AE0-20F0-465A-81BB-BAF3DAD2E482

P6179

Q34325346-E76D1584-076F-4977-9037-14DFE055A6D3

P698

Q34325346-C8184A93-26B2-49D7-B732-45D499CB4A20

P921

Q34325346-1EB767BE-DD2D-4E42-ABA5-56ED42AF0FA6

Q34325346-F86F4C42-895A-43D4-909F-4C480A4D6F95

P932

Q34325346-05A4341F-C7C8-45D8-9FCE-C7C0B2B90CA6

P356

P1433

European Journal of Human Genetics

P1476

Best practice guidelines for m ...... dated European recommendations

@en

P2093

Carlo Castellani

http://www.w3.org/2001/XMLSchema#string

Claude Ferec

http://www.w3.org/2001/XMLSchema#string

Els Dequeker

http://www.w3.org/2001/XMLSchema#string

Emmanuelle Girodon

http://www.w3.org/2001/XMLSchema#string

Harry Cuppens

http://www.w3.org/2001/XMLSchema#string

Manfred Stuhrmann

http://www.w3.org/2001/XMLSchema#string

Marianne Schwartz

http://www.w3.org/2001/XMLSchema#string

Marie des Georges

http://www.w3.org/2001/XMLSchema#string

Martin Schwarz

http://www.w3.org/2001/XMLSchema#string

Michael A Morris

http://www.w3.org/2001/XMLSchema#string

P2860

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Genotype and phenotype in cystic fibrosis.

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

The molecular basis for disease variability in cystic fibrosis.

Standards and guidelines for CFTR mutation testing.

P2888

P304

51-65

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/EJHG.2008.136

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

17

http://www.w3.org/2001/XMLSchema#string

P50

Mireille Claustres

P577

2008-08-06T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

23154499

http://www.w3.org/2001/XMLSchema#string

P6179

1001352488

http://www.w3.org/2001/XMLSchema#string

P698

18685558

http://www.w3.org/2001/XMLSchema#string

P921

cystic fibrosis

P932

2985951

http://www.w3.org/2001/XMLSchema#string