D Heron
Overview
Explore the profile of D Heron including associated specialties, affiliations and a list of published articles.
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64
Citations
1048
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Recent Articles
1.
van der Sluijs P, Gosgens M, Dingemans A, Striano P, Riva A, Mignot C, et al.
Genet Med Open
. 2024 Dec;
2():101873.
PMID: 39669611
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the...
2.
Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, et al.
AJNR Am J Neuroradiol
. 2023 Feb;
44(3):334-340.
PMID: 36822823
Background And Purpose: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book from 2005 as an anomalous mass protruding from...
3.
Heron D, Nosbaum A, Braun C
Arch Pediatr
. 2023 Feb;
30(3):136-141.
PMID: 36804357
Purpose: Atopic dermatitis (AD) is a chronic skin disease affecting 10% of children in Europe. The treatment of AD is well codified; however, a gap sometimes exists between recommendations and...
4.
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, et al.
Ultrasound Obstet Gynecol
. 2022 Dec;
61(6):740-748.
PMID: 36484554
Objective: To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis....
5.
Bah M, Rodriguez D, Cazeneuve C, Mochel F, Devos D, Suppiej A, et al.
Eur J Neurol
. 2020 Jun;
27(11):2267-2276.
PMID: 32558018
Background And Purpose: Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of...
6.
Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, et al.
Ultrasound Obstet Gynecol
. 2020 Jun;
57(5):783-789.
PMID: 32515830
Objective: To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury. Methods: This was a single-center retrospective analysis of all...
7.
Baer S, Afenjar A, Smol T, Piton A, Gerard B, Alembik Y, et al.
Clin Genet
. 2018 Mar;
94(1):141-152.
PMID: 29574747
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene...
8.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, et al.
Neurogenetics
. 2018 Mar;
19(2):93-103.
PMID: 29511999
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype...
9.
Moutton S, Bruel A, Assoum M, Chevarin M, Sarrazin E, Goizet C, et al.
Clin Genet
. 2018 Feb;
93(6):1172-1178.
PMID: 29460436
Marfanoid habitus (MH) combined with intellectual disability (ID) is a genetically and clinically heterogeneous group of overlapping disorders. We performed exome sequencing in 33 trios and 31 single probands to...
10.
Angeard N, Huerta E, Jacquette A, Cohen D, Xavier J, Gargiulo M, et al.
Neuromuscul Disord
. 2018 Jan;
28(3):216-221.
PMID: 29361396
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate...