Albert David
Overview
Explore the profile of Albert David including associated specialties, affiliations and a list of published articles.
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Articles
126
Citations
3615
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0
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Recent Articles
1.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, et al.
Am J Med Genet A
. 2023 Nov;
194(4):e63476.
PMID: 37974505
Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of...
2.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Courraud J, Chater-Diehl E, Durand B, Vincent M, Muniz Moreno M, Boujelbene I, et al.
Genet Med
. 2021 Aug;
23(11):2150-2159.
PMID: 34345024
Purpose: DYRK1A syndrome is among the most frequent monogenic forms of intellectual disability (ID). We refined the molecular and clinical description of this disorder and developed tools to improve interpretation...
3.
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.].
4.
Nguyen K, Broucqsault N, Chaix C, Roche S, Robin J, Vovan C, et al.
J Med Genet
. 2019 Apr;
56(9):590-601.
PMID: 31010831
Background: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy (FSHD). In most cases, this disease involves...
5.
Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, et al.
Eur J Hum Genet
. 2019 Jan;
27(4):525-534.
PMID: 30622331
Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated,...
6.
Lenormand A, Khonsari R, Corre P, Perrin J, Boscher C, Nizon M, et al.
Am J Med Genet A
. 2018 Apr;
176(7):1614-1617.
PMID: 29704302
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in...
7.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, et al.
J Med Genet
. 2018 Apr;
55(6):359-371.
PMID: 29618507
The Xq28 duplication involving the gene ( duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only...
8.
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...
9.
De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, et al.
Mol Syndromol
. 2017 Jul;
8(4):172-178.
PMID: 28690482
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a...
10.
Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, et al.
Eur J Hum Genet
. 2017 Jun;
25(8):930-934.
PMID: 28612834
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome...