S Lyonnet
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Explore the profile of S Lyonnet including associated specialties, affiliations and a list of published articles.
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221
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4502
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Recent Articles
1.
Rhamati L, Marcolla A, Guerrot A, Lerosey Y, Goldenberg A, Serey-Gaut M, et al.
Int J Pediatr Otorhinolaryngol
. 2023 Jun;
171:111606.
PMID: 37336020
Objectives: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype...
2.
Boussion S, Lyonnet S, Van Der Zwaag B, Vogel M, Smol T, Mezel A, et al.
Eur J Med Genet
. 2020 Jan;
63(4):103839.
PMID: 31923588
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to...
3.
Novo A, Woestelandt L, Rousselot-Pailley B, Leitgel M, Eutrope J, Rio M, et al.
Encephale
. 2018 Nov;
45(2):175-181.
PMID: 30470499
22q11.2DS is one of the more frequent genetic syndromes associated to psychiatric symptoms. It has been associated to an increased risk to develop schizophrenia in adolescence or early adulthood. However,...
4.
Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, et al.
Br J Dermatol
. 2018 Aug;
180(1):172-180.
PMID: 30141192
Background: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. Objectives: To describe the dermatological manifestations of CFCS; to compare them with the...
5.
Gordon C, Tessier A, Demir Z, Goldenberg A, Oufadem M, Voisin N, et al.
Clin Genet
. 2017 Apr;
93(2):356-359.
PMID: 28456137
Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C...
6.
Lehman N, Mazery A, Visier A, Baumann C, Lachesnais D, Capri Y, et al.
Clin Genet
. 2017 Mar;
92(3):298-305.
PMID: 28295206
Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with...
7.
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh S, et al.
Clin Genet
. 2015 Nov;
89(5):630-5.
PMID: 26582393
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a...
8.
Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, et al.
Arch Pediatr
. 2015 May;
22(6):653-60.
PMID: 25934606
Kabuki syndrome (OMIM: 147920) is a rare condition, mainly associating intellectual deficiency, a polymalformative syndrome, and specific morphological changes in the face. It nevertheless has a strong clinical and biological...
9.
Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, et al.
Am J Med Genet A
. 2015 Apr;
167(7):1587-92.
PMID: 25899569
Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger...
10.
Lehalle D, Wieczorek D, Zechi-Ceide R, Passos-Bueno M, Lyonnet S, Amiel J, et al.
Clin Genet
. 2015 Apr;
88(5):405-15.
PMID: 25865758
The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause...