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17 results on '"Krab, Lianne C."'

2. Effect of simvastatin on cognitive functioning in children with neurofibromatosis Type 1: a randomized controlled trial

Author

Krab, Lianne C., Aarsen, Femke K., de Goede-Bolder, Arja, Pluijm, Saskia M.F., Bouman, Marlies J, van der Geest, Jos N, Lequin, Maarten, Catsman, Coriene E., Arts, Willem Frans M., Kushner, Steven A., de Silva, Alcino J., Zeeuw, Chris I., Moll, Henriette A., and Elgersma, Ype

Subjects
Neurofibromatosis -- Patient outcomes, Simvastatin -- Health aspects
Abstract

The study evaluates the effect of impastation on neuropsychological, neuro-physiological, and neuro-radiological outcome measures in children with neurofibromatosis type 1 (NF1). Results show that impastation does not improve cognitive function in children with NF1.

Published
2008

3. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Author

Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Bayer Andersen, Janne, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Mokry, Jill A. Rosenfeld, Scarano, Emanuela, Shinawi, Marwan, Gomez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C., Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Bayer Andersen, Janne, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Mokry, Jill A. Rosenfeld, Scarano, Emanuela, Shinawi, Marwan, Gomez-Puertas, Paulino, Tümer, Zeynep, and Hennekam, Raoul C.

Abstract

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype–phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.

Published
2020
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4. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Author

Krab, Lianne C., primary, Marcos-Alcalde, Iñigo, additional, Assaf, Melissa, additional, Balasubramanian, Meena, additional, Andersen, Janne Bayer, additional, Bisgaard, Anne-Marie, additional, Fitzpatrick, David R., additional, Gudmundsson, Sanna, additional, Huisman, Sylvia A., additional, Kalayci, Tugba, additional, Maas, Saskia M., additional, Martinez, Francisco, additional, McKee, Shane, additional, Menke, Leonie A., additional, Mulder, Paul A., additional, Murch, Oliver D., additional, Parker, Michael, additional, Pie, Juan, additional, Ramos, Feliciano J., additional, Rieubland, Claudine, additional, Rosenfeld Mokry, Jill A., additional, Scarano, Emanuela, additional, Shinawi, Marwan, additional, Gómez-Puertas, Paulino, additional, Tümer, Zeynep, additional, and Hennekam, Raoul C., additional

Published
2020
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9. Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1

Author

Rietman, André B., primary, van der Vaart, Thijs, additional, Plasschaert, Ellen, additional, Nicholson, Bethany A., additional, Oostenbrink, Rianne, additional, Krab, Lianne C., additional, Descheemaeker, Mie-Jef, additional, Wit, Marie-Claire Y.de, additional, Moll, Henriëtte A., additional, Legius, Eric, additional, and Nijs, Pieter F.A.de, additional

Published
2017
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15. Reply

Author

Oostenbrink, Rianne, primary, Krab, Lianne C., additional, de Goede-Bolder, Arja, additional, and Moll, Henriette A., additional

Published
2009
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