Fanny Laffargue
Overview
Explore the profile of Fanny Laffargue including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
583
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Recent Articles
1.
Jeanne M, Ronce N, Remize S, Arpin S, Baujat G, Breton S, et al.
J Med Genet
. 2025 Jan;
PMID: 39798962
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom...
2.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, de Tayrac M, Carre W, et al.
Genet Med
. 2024 Mar;
26(7):101126.
PMID: 38529886
Purpose: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a...
3.
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...
4.
Ouedraogo Z, Janel C, Janin A, Millat G, Langlais S, Pontier B, et al.
Genes (Basel)
. 2024 Feb;
15(2).
PMID: 38397214
Skeletal dysplasia, also called osteochondrodysplasia, is a category of disorders affecting bone development and children's growth. Up to 552 genes, including fibroblast growth factor receptor 3 (), have been implicated...
5.
Lefevre C, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clemenson A, Massardier J, et al.
J Inherit Metab Dis
. 2023 Nov;
47(2):255-269.
PMID: 38012812
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme)...
6.
Racine C, Denomme-Pichon A, Engel C, Mau-Them F, Bruel A, Vitobello A, et al.
J Med Genet
. 2023 Aug;
61(1):36-46.
PMID: 37586840
Purpose: Wide access to clinical exome/genome sequencing (ES/GS) enables the identification of multiple molecular diagnoses (MMDs), being a long-standing but underestimated concept, defined by two or more causal loci implicated...
7.
Tooze R, Miller K, Swagemakers S, Calpena E, McGowan S, Boute O, et al.
Genet Med
. 2023 May;
25(9):100883.
PMID: 37154149
Purpose: Studies have previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures. We investigated the role of heterozygous missense...
8.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, et al.
J Med Genet
. 2022 Nov;
60(6):620-626.
PMID: 36368868
Background: Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range...
9.
Echaubard S, Pebrel-Richard C, Chausset A, Kemeny J, Merlin E, Laffargue F
Pediatr Rheumatol Online J
. 2022 Jul;
20(1):58.
PMID: 35908058
Background: Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be a...
10.
Couzens A, Lebreton A, Masclaux F, Guipponi M, Pebrel-Richard C, Laffargue F, et al.
Haemophilia
. 2022 Jul;
28(5):e132-e135.
PMID: 35809055
No abstract available.