Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Precision Health Database


Precision Health Database|Search|PHGKB

Rare Diseases

Last data update: Sep 28, 2023. (Total: 61657 Documents since 2012)
   dataset      
Filtered By:

Previous    

Records 1 - 30 (of 709 Records)

Next

Query Trace:
Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
A retrospective study on newborn screening for metabolic disorders.
Karam Chandrajit Singh et al. Bioinformation 2023 18(12) 1122-1125
Optimization of performance of Dutch newborn screening for cystic fibrosis.
M J Bouva et al. J Cyst Fibros 2023
Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Erin F Kallam et al. Paediatr Respir Rev 2023
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
Experiences of cystic fibrosis newborn screening and genetic counseling.
Kimberly Foil et al. J Community Genet 2023
Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019.
Roseli Divino Costa et al. Rev Paul Pediatr 2023 42e2022161
Why cystic fibrosis newborn screening programs have failed to meet original expectations… thus far.
Philip M Farrell et al. Mol Genet Metab 2023 107679
Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening.
Ioanna Loukou et al. Acta Paediatr 2023
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
A Rachel Moore et al. J Med Genet 2023
Prevalence and Clinical Significance of Commonly Diagnosed Genetic Disorders in Preterm Infants.
Selin S Everett et al. medRxiv 2023
Development and validation of a short form psychometric tool assessing the caregiving Challenge of Living with Cystic Fibrosis (CLCF-SF) in a child.
Gareth McCray et al. Psychol Health 2023 1-23
Late Diagnosis in the Era of Universal Newborn Screening Negatively Effects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis.
Stacey L Martiniano et al. J Pediatr 2023 113595
Genome Editing for Cystic Fibrosis.
Guoshun Wang et al. Cells 2023 12(12)
The revolution of personalized pharmacotherapies for cystic fibrosis: what does the future hold?
Kathryn E Oliver et al. Expert Opin Pharmacother 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan et al, Genetics in Medicine, June 13, 2023
Cystic Fibrosis: A Review.
Thida Ong et al. JAMA 2023 329(21) 1859-1871
Psychosocial needs and interventions for young children with cystic fibrosis and their families.
Stella Li et al. Paediatr Respir Rev 2023
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Vito Terlizzi et al. Pediatr Pulmonol 2023
Cost-effectiveness analysis of genetic tools to predict treatment response in patients with cystic fibrosis.
Yeva Sahakyan et al. J Cyst Fibros 2023
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Vito Terlizzi et al. Int J Mol Sci 2023 24(7)
Gaps in Cystic Fibrosis Care Are Associated with Reduced Lung Function in the U.S. Cystic Fibrosis Foundation Patient Registry.
Edmund H Sears et al. Annals of the American Thoracic Society 2023
Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
Mohini A Gunnett et al. Frontiers in pediatrics 2023 111127659
Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.
Payal Patel et al. International journal of neonatal screening 2023 9(1)
Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020.
Elizabeth A Cromwell et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Kevin W Southern et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 22(1) 17-30
Sweat conductivity for diagnosing cystic fibrosis after positive newborn screening: prospective, diagnostic test accuracy study.
Renata Marcos Bedran et al. Archives of disease in childhood 2023
Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia.
Louise J Geneen et al. The Cochrane database of systematic reviews 2023 3(3) CD012349
Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16
Early life growth trajectories in cystic fibrosis are associated with lung function at age six.
Kevin J Psoter et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
TOP