Literature DB >> 11280952

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

W W Grody1, G R Cutting, K W Klinger, C S Richards, M S Watson, R J Desnick.   

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Year:  2001        PMID： 11280952     DOI： 10.1097/00125817-200103000-00010

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  104 in total

1.  Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.

Authors:  Marie C Earley; Anita Laxova; Philip M Farrell; Rena Driscoll-Dunn; Suzanne Cordovado; Peter J Mogayzel; Michael W Konstan; W Harry Hannon
Journal:  Clin Chim Acta       Date:  2011-04-14       Impact factor: 3.786

2.  Quest for controls in molecular genetics.

Authors:  Wayne W Grody
Journal:  J Mol Diagn       Date:  2003-11       Impact factor: 5.568

3.  Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing.

Authors:  Susan H Bernacki; Ana K Stankovic; Laurina O Williams; Jeanne C Beck; James E Herndon; Karen Snow-Bailey; Thomas W Prior; Karla J Matteson; Linda M Wasserman; Eugene C Cole; Timothy T Stenzel
Journal:  J Mol Diagn       Date:  2003-11       Impact factor: 5.568

Review 4.  Ethical issues raised by genetic testing with oligonucleotide microarrays.

Authors:  Wayne W Grody
Journal:  Mol Biotechnol       Date:  2003-02       Impact factor: 2.695

Review 5.  Bayesian analysis and risk assessment in genetic counseling and testing.

Authors:  Shuji Ogino; Robert B Wilson
Journal:  J Mol Diagn       Date:  2004-02       Impact factor: 5.568

6.  Simultaneous sequencing of multiple polymerase chain reaction products and combined polymerase chain reaction with cycle sequencing in single reactions.

Authors:  Kathleen M Murphy; James R Eshleman
Journal:  Am J Pathol       Date:  2002-07       Impact factor: 4.307

7.  Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.

Authors:  S Ogino; R B Wilson; W W Grody
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

8.  Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.

Authors:  Genevieve Pont-Kingdon; Mohamed Jama; Christine Miller; Alison Millson; Elaine Lyon
Journal:  J Mol Diagn       Date:  2004-08       Impact factor: 5.568

9.  Carrier screening in preconception consultation in primary care.

Authors:  Sylvia A Metcalfe
Journal:  J Community Genet       Date:  2011-12-20

10.  CFTR mutation analysis and haplotype associations in CF patients.

Authors:  S K Cordovado; M Hendrix; C N Greene; S Mochal; M C Earley; P M Farrell; M Kharrazi; W H Hannon; P W Mueller
Journal:  Mol Genet Metab       Date:  2011-10-26       Impact factor: 4.797
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