Results 121 to 130 of about 15,137 (146)

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant. [PDF]

Mol Genet Genomic Med
Yue X, Chen M, Ke X, Yang H, Gong F, Wang L, Duan L, Pan H, Zhu H.   +8 more
europepmc   +1 more source

Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature. [PDF]

J Clin Med
Gruca-Stryjak K, Doda-Nowak E, Dzierla J, Wróbel K, Szymankiewicz-Bręborowicz M, Mazela J.   +5 more
europepmc   +1 more source

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome. [PDF]

Front Genet
Bestetti I, Crippa M, Sironi A, Bellini M, Tumiatti F, Ballabio S, Ceriotti F, Memo L, Iascone M, Larizza L, Finelli P.   +10 more
europepmc   +1 more source

Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS). [PDF]

Pediatr Rheumatol Online J
Boiu S, Paschalidis N, Sentis G, Manolakou T, Nezos A, Gialitakis M, Grigoriou M, Atsali E, Giorgi M, Ntinopoulos A, Mavragani C, Makrythanasis P, Boumpas DT, Banos A.   +13 more
europepmc   +1 more source

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Cornelia De Lange Syndrome and Congenital Diaphragmatic Hernia

Journal of Pediatric Surgery, 2021
Vikas S Gupta, Matthew T Harting, Ashley H Ebanks   +2 more
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Chromatinopathies: A Focus on Cornelia De Lange Syndrome

Clinical Genetics, 2020
Angelo Selicorni, Paolo Grazioli, Cristina Gervasini   +2 more
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Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes

Ca-A Cancer Journal for Clinicians, 2018
Patrick Boland, Matthew B Yurgelun, Clement Richard Boland   +2 more
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The Pmpo Syndrome (Postmenopausal Palpable Ovary Syndrome)

Ca-A Cancer Journal for Clinicians, 1972
Edward A Graber, Hugh R K Barber, H R K Barber   +2 more
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