scholarly journals Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

2017 ◽  
Vol 173 (11) ◽  
pp. 2898-2905 ◽  
Author(s):  
Martijn Baas ◽  
Jacob W.P. Potuijt ◽  
Steven E.R. Hovius ◽  
A. Jeannette M. Hoogeboom ◽  
Robert-Jan H. Galjaard ◽  
...  
Keyword(s):  
Dutch Population ◽  
Intrafamilial Variability ◽  
Triphalangeal Thumb

The Golombok Rust Inventory of Sexual Satisfaction (GRISS): Psychometric Properties within a Dutch Population

1999 ◽  
Vol 25 (1) ◽  
pp. 59-71 ◽  
Author(s):  
Moniek M. Ter Kuile ◽  
Jacques J.D.M. Van Lankveld ◽  
Peggy Kalkhoven ◽  
Marjan Van Egmond
Keyword(s):  
Psychometric Properties ◽  
Sexual Satisfaction ◽  
Dutch Population

Item Bias Analysis of the Young Schema-Questionnaire for Psychopathology, Gender, and Educational Level

2011 ◽  
Vol 27 (1) ◽  
pp. 65-70 ◽  
Author(s):  
Marleen M. Rijkeboer ◽  
Huub van den Bergh ◽  
Jan van den Bout
Keyword(s):  
Educational Level ◽  
Cross Validation ◽  
Item Bias ◽  
Response Patterns ◽  
Dutch Population ◽  
Bias Analysis ◽  
Young Schema Questionnaire ◽  
Item Functioning ◽  
Item Level ◽  
Schema Questionnaire

This study examines the construct validity of the Young Schema-Questionnaire at the item level in a Dutch population. Possible bias of items in relation to the presence or absence of psychopathology, gender, and educational level was analyzed, using a cross-validation design. None of the items of the YSQ exhibited differential item functioning (DIF) for gender, and only one item showed DIF for educational level. Furthermore, item bias analysis did not identify DIF for the presence or absence of psychopathology in as much as 195 of the 205 items comprising the YSQ. Ten items, however, spread over the questionnaire, were found to yield relatively inconsistent response patterns for patients and nonclinical participants.

scholarly journals Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 706
Author(s):  
Angela Sparago ◽  
Flavia Cerrato ◽  
Laura Pignata ◽  
Francisco Cammarata-Scalisi ◽  
Livia Garavelli ◽  
...  
Keyword(s):  
Cellular Proliferation ◽  
Missense Variant ◽  
Abdominal Wall Defects ◽  
Loss Of Function ◽  
Nonsense Mutations ◽  
Molecular Defects ◽  
Variable Expressivity ◽  
Imprinting Disorder ◽  
Perinatal Lethality ◽  
Intrafamilial Variability

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition. CDKN1C is a maternally expressed gene of the 11p15.5 chromosomal region and is regulated by the imprinting control region IC2. It negatively controls cellular proliferation, and its expression or activity are frequently reduced in BWS. In particular, loss of IC2 methylation is associated with CDKN1C silencing in the majority of sporadic BWS cases, and maternally inherited loss-of-function variants of CDKN1C are the most frequent molecular defects of familial BWS. We have identified, using Sanger sequencing, novel CDKN1C variants in three families with recurrent cases of BWS, and a previously reported variant in a woman with recurrent miscarriages with exomphalos. Clinical evaluation of the patients showed variable manifestation of the disease. The frameshift and nonsense variants were consistently associated with exomphalos, while the missense variant caused a less severe phenotype. Pregnancy loss and perinatal lethality were found in the families segregating nonsense mutations. Intrafamilial variability of the clinical BWS features was observed, even between siblings. Our data are indicative of severe BWS phenotypes that, with variable expressivity, may be associated with both frameshift and nonsense variants of CDKN1C.

scholarly journals A High Lymph Node Yield is Associated with Prolonged Survival in Elderly Patients Undergoing Curative Gastrectomy for Cancer: A Dutch Population-Based Cohort Study

2017 ◽  
Vol 24 (8) ◽  
pp. 2213-2223 ◽  
Author(s):  
Hylke J. F. Brenkman ◽  
Lucas Goense ◽  
Lodewijk A. Brosens ◽  
Nadia Haj Mohammad ◽  
Frank P. Vleggaar ◽  
...  
Keyword(s):  
Cohort Study ◽  
Lymph Node ◽  
Elderly Patients ◽  
Population Based ◽  
Prolonged Survival ◽  
Dutch Population ◽  
Curative Gastrectomy ◽  
Lymph Node Yield ◽  
High Lymph Node ◽  
Node Yield

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

2005 ◽  
Vol 253 (1) ◽  
pp. 21-25 ◽  
Author(s):  
I. Cuscó ◽  
M. J. Barceló ◽  
R. Rojas–García ◽  
I. Illa ◽  
J. Gámez ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Copy Number ◽  
Muscular Atrophy ◽  
Intrafamilial Variability ◽  
Chronic Spinal Muscular Atrophy
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