DIAGNOSTIC CHALLENGES IN A SCREENED POPULATION: THE CALIFORNIA CF NEWBORN SCREENING PROGRAM EXPERIENCE

被引：0
作者：
Milla, Carlos [1 ]
机构：
[1] Stanford Univ, Palo Alto, CA 94304 USA
来源：
PEDIATRIC PULMONOLOGY | 2011年
关键词：
CYSTIC-FIBROSIS; MUTATION ANALYSIS; SWEAT CHLORIDE;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：130 / 131
页数：2
相关论文
共 9 条
  • [1] Alper Ozgul M, 2004, Hum Mutat, V24, P353, DOI 10.1002/humu.9281
  • [2] Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
    Castellani, C.
    Cuppens, H.
    Macek, M., Jr.
    Cassinian, J. J.
    Kerern, E.
    Durie, P.
    Tullis, E.
    Assael, B. M.
    Bombieri, C.
    Brown, A.
    Casals, T.
    Claustres, M.
    Cutting, G. R.
    Dequeker, E.
    Dodge, J.
    Doull, I.
    Farrell, P.
    Ferec, C.
    Girodon, E.
    Johannesson, M.
    Kerem, B.
    Knowles, M.
    Munck, A.
    Pignatti, P. F.
    Radojkovic, D.
    Rizzotti, P.
    Schwarz, M.
    Stuhnnann, M.
    Tzetis, M.
    Zielenski, J.
    Elborn, J. S.
    [J]. JOURNAL OF CYSTIC FIBROSIS, 2008, 7 (03) : 179 - 196
  • [3] ATYPICAL CYSTIC-FIBROSIS OF THE PANCREAS WITH NORMAL LEVELS OF SWEAT CHLORIDE AND MINIMAL PANCREATIC LESIONS
    HUFF, DS
    HUANG, NN
    AREY, JB
    [J]. JOURNAL OF PEDIATRICS, 1979, 94 (02) : 237 - 239
  • [4] Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens - Implications for newborn screening
    Kammesheidt, Anja
    Kharrazi, Martin
    Graham, Steve
    Young, Suzanne
    Pearl, Michelle
    Dunlop, Charles
    Keiles, Steven
    [J]. GENETICS IN MEDICINE, 2006, 8 (09) : 557 - 562
  • [5] Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics novel mutations and assessment of a population-specific mutation spectrum
    Schrijver, I
    Ramalingam, S
    Sankaran, R
    Swanson, S
    Dunlop, CLM
    Keiles, S
    Moss, RB
    Oehlert, J
    Gardner, P
    Wassman, ER
    Kammesheidt, A
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2005, 7 (02) : 289 - 299
  • [6] STEWART B, 1995, AM J RESP CRIT CARE, V151, P899
  • [7] *US CENS BUR, POP EST NAT CHAR
  • [8] Zirbes J., 2010, Journal of Cystic Fibrosis, V9, pS7, DOI DOI 10.1016/S1569-1993(10)60026-4
  • [9] MINIMUM GUIDELINES F
1