Results 81 to 90 of about 1,020 (134)

Cornelia de Lange syndrome – characteristics and laparoscopic treatment modalities of reflux based on own material

Videosurgery and Other Miniinvasive Techniques, 2011
Cornelia de Lange syndrome (typus degenerativus amstelodamensis, CdLS, Brachmann syndrome) is a complex, congenital,multi-gene anomaly characterized by mental retardation.
Robert Szyca, Krzysztof Leksowski
doaj  

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells

Cells
Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are ...
Maddalena Di Nardo, Ian D. Krantz, Antonio Musio   +2 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

A flexible loop in the Smc3 head domain is required for stability and cohesin complex integrity

Scientific Reports
Smc3 is a core subunit of the cohesin complex and is essential for its biological function. Cohesin, an evolutionarily conserved complex of the Structural Maintenance of Chromosomes (SMC) family, mediates the higher-order organization of chromatin and ...
Wisal Asaad, Avi Matityahu, Itay Onn
doaj   +1 more source

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

BMC Medical Genomics
Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases ...
Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi   +11 more
doaj   +1 more source

Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. [PDF]

Curr Opin Psychiatry, 2017
Grados MA, Alvi MH, Srivastava S.
europepmc   +1 more source

Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient. [PDF]

Cureus
Tobia HT, Alalawi F, Mohan D, Alhadari A.   +3 more
europepmc   +1 more source

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report. [PDF]

Cureus
Cherrabi C, Ayyad A, Ech-Chebab M, Messaoudi S, Amrani R.   +4 more
europepmc   +1 more source

A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report. [PDF]

J Med Case Rep
Mir A, Abbasi Z, Song Y, Lee H, Khajeh A, Jahantigh M, Hajigholami S, Khedri S, Tabatabaiefar MA.   +8 more
europepmc   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China. [PDF]

Appl Clin Genet
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z.   +10 more
europepmc   +1 more source