Results 31 to 40 of about 60,147,798 (196)
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 +2 more
doaj +1 more source
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Nature Communications, 2021 Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 ...
Gabrielle Olley +7 more
doaj +1 more source
Nature Communications, 2021 A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure.
Felix D. Weiss +11 more
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Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
Oman Journal of Ophthalmology, 2014 Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor ...
Bhamy Hariprasad Shenoy +3 more
doaj +1 more source
A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study [PDF]
Journal of Clinical and Diagnostic Research, 2016 As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/
Seyyed-Mohsen Hosseininejad +2 more
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Littoral cell angioma of the spleen in a child with Cornelia De Lange syndrome
Journal of Pediatric Surgery Case Reports, 2021 Littoral Cell Angioma (LCA) is a benign and rare vascular tumor of the spleen. It is uncommon in children, and a comprehensive literature review has yielded only 12 published pediatric cases of LCA.
Naeem Liaqat +4 more
doaj +1 more source
Stem Cell Research, 2022 Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability.
Zilin Chen +4 more
doaj +1 more source
An eighteen month-old infant with Cornelia de Lange syndrome: a case report [PDF]
Iranian Journal of Neonatology, 2015 Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error.
Reza saeidi +2 more
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Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice
Prenatal Diagnosis, EarlyView.ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley +1 more source
Медицинский вестник Юга России, 2018 Th e article is devoted to rare syndrome of uncertain course of succession. Describes the etiology, phenotypic characteristics, symptoms, based on which a pediatrician and geneticist may suspect the Amsterdam dwarfi sm.
O. A. Buhayenko +3 more
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