Noonan Syndrome
What's New
Last Posted: Mar 18, 2024
- Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 3 (3) e242609 - Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.
Bruno Leah et al. The Journal of pediatrics 2023 - New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo Francesco et al. BMC pediatrics 2022 22(1) 734 - Using deep learning and electronic health records to detect Noonan syndrome in pediatric patien
Z Yang et al, Genetics in Medicine, September 13, 2022 - [The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation].
Gao Y et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022 57(3) 317-323 - Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.
Edouard Thomas et al. European journal of medical genetics 2021 104404 - Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
Porras Antonio R et al. The Lancet. Digital health 2021 - Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021 - The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Marwaha Ashish et al. American journal of medical genetics. Part A 2021 Feb - Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar Meenakshi et al. Indian pediatrics 2021 Jan 58(1) 30-33
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Fragile X Syndrome
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- Microcephaly
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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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