Cornelia De Lange Syndrome
What's New
Last Posted: Oct 10, 2023
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
MM Mudau et al, J Comm Genetics, October 10, 2023 - 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 - Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021 - Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B et al. Clinical genetics 2019 95(2) 221-230 - Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
Rentas Stefan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline Antonie D et al. Nature reviews. Genetics 2018 Jul - Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.
Meshram Girish Gulab et al. Medical archives (Sarajevo, Bosnia and Herzegovina) 2018 Oct 72(4) 297-299 - Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
January Kathleen et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 Jun 172(2) 237-45 - Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos Feliciano J et al. European journal of human genetics : EJHG 2015 Oct 23(10) - Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
Cacioppo Cara N et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 May
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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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