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1.
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Genet Med;
18(3): 231-8, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25674778
2.
Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?
J Clin Endocrinol Metab;
2024 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38701341
3.
Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.
Int J Neonatal Screen;
6(2)2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32514487
4.
Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.
Hum Genet;
124(3): 255-62, 2008 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-18752002
5.
A screening system for detecting genetic risk markers of type 1 diabetes in dried blood spots.
Diabetes Technol Ther;
8(4): 433-43, 2006 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16939368
6.
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.
J Inborn Errors Metab Screen;
42016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28261631
7.
Identification of two novel DQA1 alleles, DQA1*0107 and DQA1*0602, by sequence-based typing in the GoKinD population.
Hum Immunol;
66(12): 1248-53, 2005 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-16690412
8.
The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality.
Int J Neonatal Screen;
1(1): 13-26, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26309908
9.
Polymorphism scan for differences between transmitted and nontransmitted DRB1*030101 alleles outside of exon 2 for type 1 diabetes: the frequency of polymorphisms is similar.
Hum Immunol;
65(7): 737-44, 2004 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15301864
10.
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.
Mol Genet Metab Rep;
1: 312-323, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-27896104
11.
Developmental genetics of secretory vesicle acidification during Caenorhabditis elegans spermatogenesis.
Genetics;
191(2): 477-91, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22446317
12.
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis
J. inborn errors metab. screen;
4: e160018, 2016. tab
Artículo
en Inglés
| LILACS-Express
| ID: biblio-1090895
13.
Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.
Clin Chim Acta;
412(15-16): 1376-81, 2011 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21514289
14.
Proficiency testing of human leukocyte antigen-DR and human leukocyte antigen-DQ genetic risk assessment for type 1 diabetes using dried blood spots.
J Diabetes Sci Technol;
4(4): 929-41, 2010 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20663459
15.
Assessment of DNA contamination from dried blood spots and determination of DNA yield and function using archival newborn dried blood spots.
Clin Chim Acta;
402(1-2): 107-13, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19161996
16.
Novel human leukocyte antigen class I and class II alleles identified by sequence-based typing in the Genetics of Kidneys in Diabetes (GoKinD) study population.
Hum Immunol;
70(9): 747-9, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19539002
17.
Nephropathy in type 1 diabetes is diminished in carriers of HLA-DRB1*04: the genetics of kidneys in diabetes (GoKinD) study.
Diabetes;
57(2): 518-22, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18039812
18.
Genetics of Kidneys in Diabetes (GoKinD) study: a genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes.
J Am Soc Nephrol;
17(7): 1782-90, 2006 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16775037
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