Detalhe da pesquisa
1.
Why cystic fibrosis newborn screening programs have failed to meet original expectations thus far.
Mol Genet Metab
; 140(1-2): 107679, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37573205
2.
Late Diagnosis in the Era of Universal Newborn Screening Negatively Affects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis.
J Pediatr
; 262: 113595, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406853
3.
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Mol Genet Metab
; 134(1-2): 8-19, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483044
4.
Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status.
J Pediatr
; 224: 37-43.e2, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386871
5.
Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
J Pediatr
; 224: 44-50.e1, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32826027
6.
Identification of molecular signatures of cystic fibrosis disease status with plasma-based functional genomics.
Physiol Genomics
; 51(1): 27-41, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540547
7.
Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned.
J Pediatr
; 181S: S16-S26, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129808
8.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
J Pediatr
; 181S: S27-S32.e1, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129809
9.
Diagnosis of Cystic Fibrosis in Nonscreened Populations.
J Pediatr
; 181S: S52-S57.e2, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129813
10.
Diagnosis of Cystic Fibrosis in Screened Populations.
J Pediatr
; 181S: S33-S44.e2, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129810
11.
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
J Pediatr
; 181S: S4-S15.e1, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129811
12.
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Genet Med
; 18(3): 231-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25674778
13.
Cystic fibrosis newborn screening: a model for neuromuscular disease screening?
Ann Neurol
; 77(2): 189-97, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425541
14.
Wisconsin's Lifecourse Initiative for Healthy Families: application of the maternal and child health life course perspective through a regional funding initiative.
Matern Child Health J
; 18(2): 413-22, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595565
15.
Severe lung disease in children with cystic fibrosis missed in newborn screening.
Pediatr Pulmonol
; 59(1): 163-168, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37888495
16.
Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.
J Cyst Fibros
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383231
17.
Association of lung function, chest radiographs and clinical features in infants with cystic fibrosis.
Eur Respir J
; 42(6): 1545-52, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23722613
18.
Effects of immediate telephone follow-up with providers on sweat chloride test timing after cystic fibrosis newborn screening identifies a single mutation.
J Pediatr
; 162(3): 522-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23102590
19.
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Pediatr Pulmonol
; 58(3): 778-787, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416003
20.
Variation in cystic fibrosis newborn screening algorithms in the United States.
Pediatr Pulmonol
; 58(3): 927-933, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36507555