De Lange
Depressed Whole Blood Serotonin Levels Associated With Behavioral Abnormalities in the de Lange Syndrome
... Depressed Whole Blood Serotonin Levels Associated With Behavioral Abnormalities in the de Lange.. Syndrome.[r] ...
7
Diverse profiles of anxiety related disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi syndromes
... Genetic syndromes can be associated with a height- ened prevalence of particular characteristics (Dykens et al. 2000); for example, heightened levels of self-injurious behavior in Lesch–Nyhan syndrome, aggression in ...
13
Temporal Bone CT Findings in Cornelia de Lange Syndrome
... Cornelia de Lange syndrome at a human genetics clinic were enrolled in this study for hearing im- pairment ...were de- fined as having the classic form of the syndrome, whereas the other 5 children, ...
5
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
... Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex ...Cornelia de Lange Syndrome as such molecular impairment could lead ...
8
Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes
... Cornelia de Lange syndrome; FLACC: Face, Legs, Activity, Cry and Consolability behavioural pain assessment scale; HQ: Health Questionnaire; ID: Intellectual disability; JASPER: Joint Attention Symbolic Play ...
15
A case of Cornelia de Lange syndrome from Sudan
... 12. Robinson LK, Jones KL: The de Lange syndrome in a mother and her son. (Abstract). Proc Greenwood Genet Center 1983, 2:125. 13. Borghi A, Giusti G, Bigozzi U: Nanismo degenerativo tipo di Amsterdam ...
5
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
... Background: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS ...
6
De novo duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype
... ing findings, hip dysplasia, central sleep apnea and con- ductive hearing loss [2]. Approximately one-third of pa- tients die within the first year of life due to infections and cardiac anomalies [3]. Although 3q ...
5
Lifespan trajectory of affect in Cornelia de Lange syndrome : towards a neurobiological hypothesis
... Cornelia de Lange syndrome (CdLS) is a cohesinopathy associated with ID with an estimated prevalence of 1:10, 000 – 1:80,000 [12]. Abnormalities of the cohesin complex are associated with downregulation of ...
9
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome
... ABSTRACT Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, ...
13
Oeverversteviging langs de Lange Linschoten Onderzoek naar de oeververstevigingsmethoden langs de Lange Linschoten vanuit zowel technisch als niet technisch perspecties
... door de Lange Linschoten afgevoerd wordt naar de Oude ...via de Lange Linschoten juist extra water aangevoerd (Waterschap HDSR, ...2011a). De functie van de Lange ...
77
Cornelia de Lange Syndrome: Evolution of the Phenotype
... by the age of 21 months she had developed the.. 834 CORNELIA DE LANGE SYNDROME. Fic. Patient at 8 months of age. classical phenotype of having the CdL syn-[r] ...
6
Case Report Two novel NIPBL mutations in three Chinese neonates with Cornelia de Lange syndrome identified by disease-associated genome panel
... [12] Parenti I, Gervasini C, Pozojevic J, Graul-Neu- mann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaes- bach G, Lazarevic D, Mariani M, Russo S, Wer- ner R, Krawitz P, Larizza L, ...
7
Ende hoorden si den leeu brieschen. De lange adem van de Brabantse identiteit: Jan van Heelu in het Brusselse stadsarchief
... Vanaf de jaren ’60 – als reactie op de spanningen van de Koude Oorlog tussen diverse communistische en kapitalistische landen, net na de Wereldoorlogen, met de economische opkomst van ...
80
Oss-Zevenbergen : de lange termijn-geschiedenis van een prehistorisch grafveld
... maar de werkzaamheden te faseren en steeds te concentreren op één ...name de laag waarin de plaggen zichtbaar waren, bleek het meest gevoelig voor verstuiving en de gekozen methode leverde ...
260
TW Horeca: analyse van de afzetmarkt: Een onderzoek naar het bereiken van groei en winstgevendheid op de lange termijn door het analyseren van klantwaarden en het segmenteren van de afzetmarkt
... aan de hand van een segmentatiemodel opgedeeld in drie macro segmenten op basis van de ligging en worden weergegeven worden in bijlage ...van de opgestelde klantwaarde propositie is het aan te raden ...
39
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
... Given that there were no significant group differences in phonological or spatial working memory (as measured by the backwards Digit Span and Corsi Span tests, re- spectively), the diffi[r] ...
12
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
... Langer – Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 and EXT1 genes.. We report a male patient that w[r] ...
6
Immunologic Features of Cornelia de Lange Syndrome
... antibody de fi ciency is overrepresented in the CdLS ...marked de- velopmental delay, dysmorphic facial fea- tures, severe gastroesophageal re fl ux disease, and limb abnormalities (3 of 9 patients had a con ...
8
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
... It has been reported that cohesin binding significantly overlaps with CTCF sites and depends on CTCF [30, 31]. A study in mouse embryonic stem cells (mESCs) showed, however, that there is only a limited overlap be- tween ...
20