نتایج جستجو برای: cdls

تعداد نتایج: 139  

Journal: :Pediatrics 2013
Soma Jyonouchi Jordan Orange Kathleen E Sullivan Ian Krantz Matthew Deardorff

OBJECTIVES Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality. The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome. METHODS We assessed infectious histories in ...

Journal: :Human molecular genetics 2009
Ekaterina Revenkova Maria Luisa Focarelli Lucia Susani Marianna Paulis Maria Teresa Bassi Linda Mannini Annalisa Frattini Domenico Delia Ian Krantz Paolo Vezzoni Rolf Jessberger Antonio Musio

Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A and SMC3 are present in approximately 65% of CdLS patients. In addition to their canonical roles in chromosome segregation, the cohesin proteins ...

Journal: :Journal of autism and developmental disorders 2009
Caroline Richards Jo Moss Laura O'Farrell Gurmeash Kaur Chris Oliver

In this study we assessed the behavioral presentation of social anxiety in Cornelia de Lange syndrome (CdLS) using a contrast group of Cri du Chat syndrome (CdCS). Behaviors indicative of social anxiety were recorded in twelve children with CdLS (mean age = 11.00; SD = 5.15) and twelve children with CdCS (8.20; SD = 2.86) during social interaction. Lag sequential analysis revealed that particip...

Journal: :Journal of medical genetics 2004
G Borck R Redon D Sanlaville M Rio M Prieur S Lyonnet M Vekemans N P Carter A Munnich L Colleaux V Cormier-Daire

C ornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by preand postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features. Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long...

Journal: :Journal of child psychology and psychiatry, and allied disciplines 2012
Jo Moss Patricia Howlin Iliana Magiati Chris Oliver

BACKGROUND The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with...

2012
Ana R. Ribeiro Alice Barbaglio Maria J. Oliveira Cristina C. Ribeiro Iain C. Wilkie Maria D. Candia Carnevali Mário A. Barbosa

Mutable collagenous tissues (MCTs) of echinoderms show reversible changes in tensile properties (mutability) that are initiated and modulated by the nervous system via the activities of cells known as juxtaligamental cells. The molecular mechanism underpinning this mechanical adaptability has still to be elucidated. Adaptable connective tissues are also present in mammals, most notably in the u...

2010
Jinglan Liu Zhe Zhang Masashige Bando Takehiko Itoh Matthew A. Deardorff Jennifer R. Li Dinah Clark Maninder Kaur Kondo Tatsuro Antonie D. Kline Celia Chang Hugo Vega Laird G. Jackson Nancy B. Spinner Katsuhiko Shirahige Ian D. Krantz

The cohesin complex has recently been shown to be a key regulator of eukaryotic gene expression, although the mechanisms by which it exerts its effects are poorly understood. We have undertaken a genome-wide analysis of DNA methylation in cohesin-deficient cell lines from probands with Cornelia de Lange syndrome (CdLS). Heterozygous mutations in NIPBL, SMC1A and SMC3 genes account for ∼65% of i...

Journal: :Human mutation 2015
María Concepción Gil-Rodríguez Matthew A Deardorff Morad Ansari Christopher A Tan Ilaria Parenti Carolina Baquero-Montoya Lilian B Ousager Beatriz Puisac María Hernández-Marcos María Esperanza Teresa-Rodrigo Iñigo Marcos-Alcalde Jan-Jaap Wesselink Silvia Lusa-Bernal Emilia K Bijlsma Diana Braunholz Inés Bueno-Martinez Dinah Clark Nicola S Cooper Cynthia J Curry Richard Fisher Alan Fryer Jaya Ganesh Cristina Gervasini Gabriele Gillessen-Kaesbach Yiran Guo Hakon Hakonarson Robert J Hopkin Maninder Kaur Brendan J Keating María Kibaek Esther Kinning Tjitske Kleefstra Antonie D Kline Ekaterina Kuchinskaya Lidia Larizza Yun R Li Xuanzhu Liu Milena Mariani Jonathan D Picker Ángeles Pié Jelena Pozojevic Ethel Queralt Julie Richer Elizabeth Roeder Anubha Sinha Richard H Scott Joyce So Katherine A Wusik Louise Wilson Jianguo Zhang Paulino Gómez-Puertas César H Casale Lena Ström Angelo Selicorni Feliciano J Ramos Laird G Jackson Ian D Krantz Soma Das Raoul C M Hennekam Frank J Kaiser David R FitzPatrick Juan Pié

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features ...

2015
Lucia Parisi Teresa Di Filippo Michele Roccella

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 on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of C...

Journal: :Journal of intellectual disability research : JIDR 2008
S S Hall K Arron J Sloneem C Oliver

BACKGROUND Self-injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. METHOD 54 individuals with CdLS were compared with 46 participants with intellectual disability (ID) of mixed aetiology wh...

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