Literature DB >> 8734778

Rubinstein-Taybi syndrome: cranial MR imaging findings.

R N Sener1.   

Abstract

Rubinstein-Taybi syndrome is a syndrome of mental retardation associated with broad thumbs and big toes. The patients have a characteristic flat face with a beaked nose. This paper deals with brain changes in a patient with this syndrome, studied by MR imaging, which mainly consist of bilateral rolandic cortical clefts and diminished white matter, which probably account for mental retardation.

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Year:  1995        PMID: 8734778     DOI: 10.1016/0895-6111(95)00023-2

Source DB:  PubMed          Journal:  Comput Med Imaging Graph        ISSN: 0895-6111            Impact factor:   4.790


  6 in total

1.  Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome.

Authors:  S Fischer; H Bäzner; H Henkes
Journal:  Clin Neuroradiol       Date:  2011-09-20       Impact factor: 3.649

2.  Isolated macrocerebellum: description of six cases and literature review.

Authors:  Felice D'Arco; Lorenzo Ugga; Ferdinando Caranci; Maria Pia Riccio; Chiara Figliuolo; Kshitij Mankad; Alessandra D'Amico
Journal:  Quant Imaging Med Surg       Date:  2016-10

3.  Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.

Authors:  Salud Jiménez-Romero; Pilar Carrasco-Salas; Antonio Benítez-Burraco
Journal:  Mol Syndromol       Date:  2018-01-11

4.  A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation.

Authors:  Se Hee Kim; Byung Chan Lim; Jong Hee Chae; Ki Joong Kim; Yong Seung Hwang
Journal:  Korean J Pediatr       Date:  2010-06-23

5.  Globularity and language-readiness: generating new predictions by expanding the set of genes of interest.

Authors:  Cedric Boeckx; Antonio Benítez-Burraco
Journal:  Front Psychol       Date:  2014-11-25

6.  Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.

Authors:  Juan C Ateca-Cabarga; Alejandro Cosa; Vicente Pallarés; José P López-Atalaya; Ángel Barco; Santiago Canals; David Moratal
Journal:  Sci Rep       Date:  2015-11-06       Impact factor: 4.379

  6 in total

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