Results 21 to 30 of about 2,170 (250)

Cornelia De Lange Syndrome: A Case Report [PDF]

Journal of Tehran University Heart Center, 2009
Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological ...
Mohammad Yousef Aarabi Moghaddam, Hojatollah Mortezaian, Seyed Reza Miri   +2 more
doaj   +1 more source

Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report

Frontiers in Endocrinology, 2022
Cornelia de Lange syndrome (CdLS) is a rare genetic disease involving multiorgan systems that varies in clinical manifestations. Female genital abnormalities in patients with CdLS are rarely reported, and current guidelines for CdLS contain little ...
Yiding Shen, Dongyan Zhao, Long Sun, Xiuzhen Yang, Xiang Yan   +4 more
doaj   +1 more source

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

Mental Illness, 2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities
Lucia Parisi, Teresa Di Filippo, Michele Roccella   +2 more
doaj   +1 more source

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family

Molecular Genetics & Genomic Medicine, 2020
Background Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex.
Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering   +11 more
doaj   +1 more source

Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS)

Jurnal Ilmu Keperawatan Anak, 2019
Cornelia de Lange Syndrome (CdLS) adalah gangguan perkembangan multisistem yang dikaitkan dengan gangguan kognitif, malformasi dan gangguan wajah internal yang khas.
Tri Retno Indah Susanti, Meira Erawati, Dwi Retno Nurniningsih   +2 more
doaj   +1 more source

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Orphanet Journal of Rare Diseases, 2021
Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene ...
M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie, B. Puisac   +14 more
doaj   +1 more source

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

Journal of Neurodevelopmental Disorders, 2017
Background The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver   +4 more
doaj   +1 more source

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity.
Chen Liu, Xiaoying Li, Jing Cui, Rui Dong, Yvqiang Lv, Dong Wang, Haiyan Zhang, Xiaomei Li, Zilong Li, Jian Ma, Yi Liu, Zhongtao Gai   +11 more
doaj   +1 more source

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

Frontiers in Neuroscience, 2021
Chromatinopathies can be defined as a class of neurodevelopmental disorders caused by mutations affecting proteins responsible for chromatin remodeling and transcriptional regulation.
Ilaria Parenti, Frank J. Kaiser, Frank J. Kaiser   +2 more
doaj   +1 more source

Extending WS-CDL to Support Reusability [PDF]

SSRN Electronic Journal, 2011
WS-CDL is a very rich language that is specially designed to describe choreography of services. However it is very poor to adopt reusability mechanisms for making the choreography easy to design and confident to use. The main challenge is that there is no mechanism to make a reusable sub choreography which is able to expose an interface.
Mardukhi, Farhad, NematBaksh, Naser, Zamanifar, Kamran   +2 more
openaire   +1 more source