Pulmonary Valve Stenosis
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Last Posted: Sep 19, 2023
- Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Biyun Feng, et al. Orphanet journal of rare diseases 2023 0 (1) 284 - Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Tekendo-Ngongang Cedrik, et al. Frontiers in genetics 2019 0 333 - Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos George, et al. European journal of pediatrics 2022 10 (10) 3691-3700 - Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna Valentina, et al. Genes 2019 9 (9) - Pulmonary valve stenosis
From NCATS Genetic and Rare Diseases Information Center - PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Brasil Amanda Salem, et al. Genetic testing and molecular biomarkers 2010 6 (3) 425-32 - The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Sznajer Yves, et al. Pediatrics 2007 6 (6) e1325-31 - Mutation screening in juvenile polyposis syndrome.
Pyatt Robert E, et al. The Journal of molecular diagnostics : JMD 2006 2 (1) 84-8 - Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
Yoshida Rie, et al. The Journal of clinical endocrinology and metabolism 2004 7 (7) 3359-64 - Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease.
Junker R, et al. Cardiovascular research 2001 8 (2) 251-4
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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