Results 211 to 220 of about 975,042 (316)

Tezacaftor–Ivacaftor in Residual‐Function Heterozygotes with Cystic Fibrosis

New England Journal of Medicine, 2017
S. Rowe, C. Daines, Felix C. Ringshausen, E. Kerem, John Wilson, E. Tullis, N. Nair, C. Simard, L. Han, E. Ingenito, C. Mckee, J. Lekstrom-Himes, J. Davies   +12 more
semanticscholar   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

The Epidemiology of Nontuberculous Mycobacteria in Cystic Fibrosis. [PDF]

Children (Basel)
Sotiropoulou A, Loukou I, Vliora C, Douros K, Moustaki M.   +4 more
europepmc   +1 more source

The role of nursing staff in the nutritional therapy of a child with cystic fibrosis

, 2019
Iwona Czerwińska Pawluk, Elwira Paula Pawluk, Angelo Daniel Szymaszek, Walery Żukow   +3 more
openalex   +2 more sources

Recent Progress in Treating Airway Mucus Hypersecretion by Targeting the Epidermal Growth Factor Receptor Signaling Pathway

Pediatric Discovery, EarlyView.
ABSTRACT Asthma, chronic pulmonary obstructive disease (COPD), cystic fibrosis, and acute respiratory infections are severe respiratory conditions that significantly contribute to global morbidity and mortality. Airway mucus hypersecretion is an important common pathophysiological and clinical manifestation of these diseases and is closely associated ...
Yuanyuan Zhang, Fuping Yang, Chunyu Yan, Yu Deng, Enmei Liu   +4 more
wiley   +1 more source

A Case of Cystic Fibrosis in a Japanese Man With Congenital Bilateral Absence of the Vas Deferens and Recurrent Pancreatitis Caused by a Homozygous c.1210-11 T > G Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene. [PDF]

Reprod Med Biol
Saito T, Kuroda S, Takeshima T, Kawahara T, Teranishi J, Karibe J, Anzai F, Tanoshima M, Makiyama K, Yumura Y.   +9 more
europepmc   +1 more source

90 Phenotypic and genotypic characteristics of the epidemic clones of Burkholderia cenocepacia strains in patients with cystic fibrosis (CF) in Russian Federation

, 2015
I.A. Shaginyan, M.Y. Chernukha, L.R. Avetisyan, Г В Алексеева, L. Avakian, N. Kashirskaya, N. Kapranov   +6 more
openalex   +1 more source

Cystic fibrosis related diabetes: Pathophysiology, screening and diagnosis.

Journal of Cystic Fibrosis, 2019
A. Granados, Christine L. Chan, K. Ode, A. Moheet, A. Moran, R. Holl   +5 more
semanticscholar   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Cystic fibrosis: Correction of a fatal disease. [PDF]

Proc Natl Acad Sci U S A
Friedman JM.
europepmc   +1 more source