Laurence Pacot
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Explore the profile of Laurence Pacot including associated specialties, affiliations and a list of published articles.
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19
Citations
85
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Recent Articles
1.
Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, et al.
NPJ Genom Med
. 2024 Sep;
9(1):41.
PMID: 39245665
We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in...
2.
Pacot L, Girish M, Knight S, Spurlock G, Varghese V, Ye M, et al.
BMC Med Genomics
. 2024 Mar;
17(1):73.
PMID: 38448973
About 5-10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 ...
3.
Pacot L, Masliah-Planchon J, Petcu A, Terris B, Gauthier Villars M, Lespinasse J, et al.
J Med Genet
. 2023 Dec;
61(5):428-429.
PMID: 38154814
No abstract available.
4.
Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, et al.
J Mol Diagn
. 2023 Nov;
26(2):150-157.
PMID: 38008284
Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1 locus complete deletion resulting from...
5.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, et al.
Br J Dermatol
. 2023 Oct;
190(2):226-243.
PMID: 37831592
Background: Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs) and plexiform (pNFs) neurofibromas. Objectives: To...
6.
Resende K, Riou M, Yamaguti P, Fournier B, Rondeau S, Pacot L, et al.
Eur J Hum Genet
. 2023 Sep;
31(11):1337-1341.
PMID: 37670079
Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a...
7.
Pacot L, Chansavang A, Jacques S, Laurendeau I, Hadjadj D, Ferkal S, et al.
Eur J Hum Genet
. 2023 Feb;
31(4):380-382.
PMID: 36732663
No abstract available.
8.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, et al.
Hum Mutat
. 2022 Oct;
43(12):2308-2323.
PMID: 36273432
Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre-mRNA splicing via disruption/creation of splicing motifs such as 5'/3'...
9.
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, des Roziers C, Coustier A, et al.
Hum Genet
. 2022 Aug;
142(1):1-9.
PMID: 35941319
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but highly variable expressivity. In most patients, Next Generation Sequencing (NGS) technologies allow the identification of a loss-of-function...
10.
Huby T, Le Guillou E, des Roziers C, Pacot L, Briand-Suleau A, Chansavang A, et al.
J Clin Endocrinol Metab
. 2021 Dec;
107(4):e1367-e1373.
PMID: 34897474
Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the...