Results 21 to 30 of about 15,137 (146)
Nature Communications, 2021 Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established.
Patricia Garcia +15 more
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Dental Management of Cornelia de Lange Syndrome: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital defect often called as Amsterdam dwarfism. The physical phenotype of CdLS includes low birth body weight, short stature and facio-cranial dysmorphia. The diagnosis of the syndrome is based
Meera Sandhu +3 more
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Contemporary Clinical Dentistry, 2010 Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS) is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child.
Leena Verma, Sidhi Passi, Krishan Gauba
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
doaj
British Journal of Clinical Pharmacology, EarlyView.Aim This study aimed to provide key requirements for a drug‐induced acute kidney injury (d‐AKI) causality assessment tool (CAT) for intensive care unit (ICU) patients, using vancomycin‐induced AKI (v‐AKI) as a test case. Methods A retrospective review was conducted by medical experts of electronic health records of ICU patients from 14 Dutch ICUs.
Joanna E. Klopotowska +44 more
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
doaj +1 more source
Business Strategy and the Environment, EarlyView.ABSTRACT As increasing stakeholder pressure pushes firms to embed sustainability into their strategies, this study explores how corporate venture capital (CVC), a key corporate entrepreneurship instrument, supports corporate parents to learn from sustainable startups.
Louisa A. Müller +2 more
wiley +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
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
International Journal of Cancer, EarlyView.Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer +11 more
wiley +1 more source