Emilie Landais
Overview
Explore the profile of Emilie Landais including associated specialties, affiliations and a list of published articles.
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22
Citations
477
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Recent Articles
1.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Guyader G, Redon S, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63531.
PMID: 38421086
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with...
2.
Huynh M, Landais E, de Sainte Agathe J, Panchout A, Caroline D, Bruel H
Mol Genet Metab Rep
. 2023 Feb;
34:100959.
PMID: 36817643
Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes , , encoding glycine cleavage enzyme system. We report an 8-year-old...
3.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, et al.
Am J Med Genet A
. 2022 Nov;
191(2):445-458.
PMID: 36369750
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion...
4.
Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, et al.
Am J Med Genet A
. 2022 Oct;
191(1):52-63.
PMID: 36196855
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with...
5.
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...
6.
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, et al.
Eur J Hum Genet
. 2015 Oct;
24(6):844-51.
PMID: 26508576
Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at...
7.
Landais E, Leroy C, Kleinfinger P, Brunet S, Koubi V, Pietrement C, et al.
Am J Med Genet A
. 2015 Apr;
167(6):1275-84.
PMID: 25900228
Familial transmission of chromosome 6 duplications is rare. We report on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated...
8.
Poirsier C, Landais E, Bednarek N, Nobecourt J, Khoury M, Schmidt P, et al.
Eur J Med Genet
. 2014 Feb;
57(5):185-94.
PMID: 24503147
The duplication of the short arm (p) of chromosome 12 is a rare chromosomal abnormality, and most reported cases result from malsegregation of a balanced parental translocation associated with other...
9.
Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue M, Andrieux J, et al.
Eur J Hum Genet
. 2013 Oct;
22(4):471-9.
PMID: 24129437
Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in...
10.
Van Maldergem L, Hou Q, Kalscheuer V, Rio M, Doco-Fenzy M, Medeira A, et al.
Hum Mol Genet
. 2013 Apr;
22(16):3306-14.
PMID: 23615299
Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we...