Lionel Van Maldergem
Overview
Explore the profile of Lionel Van Maldergem including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
131
Citations
4222
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, et al.
Genet Med
. 2021 Dec;
24(2):344-363.
PMID: 34906519
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led...
12.
Delplancq G, Boukebir M, Amsallem D, Thines L, Roze V, Dahlen E, et al.
Neuropediatrics
. 2021 Dec;
53(4):274-278.
PMID: 34879425
Potocki-Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to...
13.
Pilz R, Opalka L, Majcher A, Grimm E, Van Maldergem L, Mihalceanu S, et al.
Hum Mol Genet
. 2021 Oct;
31(7):1105-1114.
PMID: 34686882
Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene...
14.
Tosca L, Drevillon L, Mouka A, Lecerf L, Briand A, Ortonne V, et al.
Mol Genet Genomic Med
. 2021 Sep;
9(11):e1645.
PMID: 34582124
Background: Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT,...
15.
Melo U, Piard J, Fischer-Zirnsak B, Klever M, Schopflin R, Mensah M, et al.
Hum Genet
. 2021 Aug;
140(10):1459-1469.
PMID: 34436670
During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal...
16.
Huang Y, Chen C, Sundaramurthy V, Slabicki M, Hao D, Watson C, et al.
Cancer Discov
. 2021 Aug;
12(1):220-235.
PMID: 34429321
Clonal hematopoiesis is a prevalent age-related condition associated with a greatly increased risk of hematologic disease; mutations in DNA methyltransferase 3A () are the most common driver of this state....
17.
Levy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, et al.
Clin Genet
. 2021 Jun;
100(4):396-404.
PMID: 34176129
Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes...
18.
Tovy A, Rosas C, Gaikwad A, Medrano G, Zhang L, Reyes J, et al.
Haematologica
. 2021 Jun;
107(4):887-898.
PMID: 34092059
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. DNMT3A is a critical regulator of hematopoietic stem cell (HSC) differentiation and somatic...
19.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, et al.
J Med Genet
. 2021 Apr;
59(6):559-567.
PMID: 33820833
Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the...
20.
Osorio J, Rodriguez-Herreros B, Romascano D, Junod V, Habegger A, Pain A, et al.
Mol Autism
. 2021 Feb;
12(1):8.
PMID: 33546725
Background: Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this...