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6. Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age. Gonska T; Keenan K; Au J; Dupuis A; Chilvers MA; Burgess C; Bjornson C; Fairservice L; Brusky J; Kherani T; Jober A; Kosteniuk L; Price A; Itterman J; Morgan L; Mateos-Corral D; Hughes D; Donnelly C; Smith MJ; Iqbal S; Arpin J; Reisman J; Hammel J; van Wylick R; Derynck M; Henderson N; Solomon M; Ratjen F Pediatrics; 2021 Dec; 148(6):. PubMed ID: 34814176 [TBL] [Abstract][Full Text] [Related]
7. Refining the continuum of CFTR-associated disorders in the era of newborn screening. Levy H; Nugent M; Schneck K; Stachiw-Hietpas D; Laxova A; Lakser O; Rock M; Dahmer MK; Biller J; Nasr SZ; Baker M; McColley SA; Simpson P; Farrell PM Clin Genet; 2016 May; 89(5):539-49. PubMed ID: 26671754 [TBL] [Abstract][Full Text] [Related]
8. Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening. Munck A; Bourmaud A; Bellon G; Picq P; Farrell PM; Pediatr Pulmonol; 2020 Apr; 55(4):918-928. PubMed ID: 31916691 [TBL] [Abstract][Full Text] [Related]
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11. Biochemical and genetic tools to predict the progression to Cystic Fibrosis in CRMS/CFSPID subjects: A systematic review. Terlizzi V; Manti S; D'Amico F; Parisi GF; Chiappini E; Padoan R Paediatr Respir Rev; 2024 Sep; 51():46-55. PubMed ID: 38309973 [TBL] [Abstract][Full Text] [Related]
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13. Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). Barben J; Castellani C; Munck A; Davies JC; de Winter-de Groot KM; Gartner S; Kashirskaya N; Linnane B; Mayell SJ; McColley S; Ooi CY; Proesmans M; Ren CL; Salinas D; Sands D; Sermet-Gaudelus I; Sommerburg O; Southern KW; J Cyst Fibros; 2021 Sep; 20(5):810-819. PubMed ID: 33257262 [TBL] [Abstract][Full Text] [Related]
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17. Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes. Kay DM; Sadeghi H; Kier C; Berdella M; DeCelie-Germana JK; Soultan ZN; Goetz DM; Caggana M; Fortner CN; Giusti R; Kaslovsky R; Stevens C; Voter K; Welter JJ; ; Langfelder-Schwind E Pediatr Pulmonol; 2024 Jul; 59(7):1952-1961. PubMed ID: 38695616 [TBL] [Abstract][Full Text] [Related]
18. Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time. Williams SN; Nussbaum E; Chin TW; Do PC; Singh KE; Randhawa I Pediatr Pulmonol; 2014 Mar; 49(3):E103-8. PubMed ID: 24535988 [TBL] [Abstract][Full Text] [Related]
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