Brigitte Benzacken
Overview
Explore the profile of Brigitte Benzacken including associated specialties, affiliations and a list of published articles.
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Articles
46
Citations
666
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Recent Articles
1.
Larcher L, Buratti J, Heron-Longe B, Benzacken B, Pipiras E, Keren B, et al.
Clin Genet
. 2019 Dec;
97(4):639-643.
PMID: 31845318
The guanine exchange factor subunit eEF1Bα encoded by the EEF1B2 gene belongs to the eukaryotic elongation translational machinery. Pathogen variants in genes of the translational machinery have been associated with...
2.
Tabet A, Rolland T, Ducloy M, Levy J, Buratti J, Mathieu A, et al.
NPJ Genom Med
. 2019 Jul;
4:16.
PMID: 31285849
[This corrects the article DOI: 10.1038/s41525-017-0035-2.].
3.
Allach El Khattabi L, Heide S, Caberg J, Andrieux J, Fenzy M, Vincent-Delorme C, et al.
J Med Genet
. 2018 Oct;
57(5):301-307.
PMID: 30287593
Background: The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were...
4.
Tabet A, Rolland T, Ducloy M, Levy J, Buratti J, Mathieu A, et al.
NPJ Genom Med
. 2017 Dec;
2:32.
PMID: 29263841
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It...
5.
Letard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, et al.
Hum Mutat
. 2017 Dec;
39(3):319-332.
PMID: 29243349
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard...
6.
Levy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, et al.
Am J Med Genet A
. 2017 Jun;
173(8):2081-2087.
PMID: 28573701
Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and...
7.
Grati F, Gomes D, Ferreira J, Dupont C, Alesi V, Gouas L, et al.
Prenat Diagn
. 2015 May;
35(8):801-9.
PMID: 25962607
Objectives: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been...
8.
Tabet A, Verloes A, Pilorge M, Delaby E, Delorme R, Nygren G, et al.
Mol Autism
. 2015 Apr;
6:19.
PMID: 25844147
Background: Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to...
9.
Chatron N, Haddad V, Andrieux J, Desir J, Boute O, Dieux A, et al.
Am J Med Genet A
. 2015 Mar;
167A(5):1008-17.
PMID: 25728055
Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including...
10.
El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, et al.
Eur J Hum Genet
. 2014 Oct;
23(8):1010-8.
PMID: 25351778
6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial...