ALLMedicine™ Cornelia De Lange Syndrome Center

Research & Reviews 191 results

G1-Cyclin2 (Cln2) promotes chromosome hypercondensation in eco1/ctf7 rad61 null cells d...
https://doi.org/10.1093/g3journal/jkac157
G3 (Bethesda, Md.); Buskirk S, Skibbens RV

Jun 24th, 2022 - Eco1/Ctf7 is a highly conserved acetyltransferase that activates cohesin complexes and is critical for sister chromatid cohesion, chromosome condensation, DNA damage repair, nucleolar integrity, and gene transcription. Mutations in the human homol...

Cornelia de Lange Syndrome.
https://doi.org/10.1891/NN-2021-0011
Neonatal Network : NN; Deschamps GN

Jun 2nd, 2022 - Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of t...

Cutaneous Manifestations of Cornelia de Lange Syndrome
https://emedicine.medscape.com/article/1116397-overview

Jun 2nd, 2022 - Practice Essentials Cornelia de Lange syndrome (CDLS) is a rare but well-known multiple congenital anomaly/mental retardation (MCA/MR) disorder. Cornelia de Lange syndrome is entry 122470 in the Online Mendelian Inheritance in Man (OMIM) database ...

Cutaneous Manifestations of Cornelia de Lange Syndrome
http://emedicine.medscape.com/article/1116397-overview

Cutaneous Manifestations of Cornelia de Lange Syndrome
https://emedicine.medscape.com/article/1116397-print

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Clinicaltrials.gov 1 results

Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
https://clinicaltrials.gov/ct2/show/NCT04381897

May 16th, 2022 - Cornelia de Lange syndrome (CdLS) is a genetic condition caused by mutations in cohesin-related genes, mostly notably NIPBL. The CdLS phenotype includes physical features such as typical facies, limb abnormalities, short stature, and hirsutism as ...

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News 6 results

Cornelia de Lange Syndrome (CdLS) Foundation
https://www.mdedge.com/clinicianreviews/article/172093/rare-diseases/cornelia-de-lange-syndrome-cdls-foundation

Aug 7th, 2018 - Register now for the 8th Biennial CdLS Scientific and Educational Symposium to be held in Minneapolis on June 27-28, 2018. The program will feature talks by leading researchers.

Abstracts Being Accepted for Cornelia de Lange Syndrome Foundation Symposium
https://www.mdedge.com/familymedicine/article/158479/rare-diseases/abstracts-being-accepted-cornelia-de-lange-syndrome
Clinical Neurology News;

Feb 12th, 2018 - Abstracts are currently being accepted for the Cornelia de Lange Syndrome Foundation’s 8th Biennial Scientific and Education Symposium. The meeting will take place June 27-28, 2018, in Minneapolis.

Abstracts Being Accepted for Cornelia de Lange Syndrome Foundation Symposium
https://www.mdedge.com/clinicianreviews/article/158479/rare-diseases/abstracts-being-accepted-cornelia-de-lange-syndrome

Cornelia de Lange Syndrome Foundation Call for Abstracts
https://www.mdedge.com/pediatrics/article/155745/rare-diseases/cornelia-de-lange-syndrome-foundation-call-abstracts

Jan 8th, 2018 - The Cornelia de Lange Syndrome Foundation is currently accepting abstracts for its 8th Biennial Scientific & Educational Symposium. In addition to invited speakers, several platform talks are chosen from submitted abstracts.

Cornelia de Lange Syndrome Foundation Call for Abstracts
https://www.mdedge.com/clinicianreviews/article/155745/rare-diseases/cornelia-de-lange-syndrome-foundation-call-abstracts

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