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1,104 results

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Page 1
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, Seifi T, Azizimalamiri R, Shariati G, Galehdari H, Selig M, Ding C, Duerinckx S, Pirson I, Abramowicz M, Clément G, Leheup B, Jonveaux P, Lefort G, Bronner M, Renaud M, Bonnet C. Becker A, et al. Among authors: lambert l. Clin Genet. 2023 Mar;103(3):346-351. doi: 10.1111/cge.14264. Epub 2022 Dec 2. Clin Genet. 2023. PMID: 36371792 Free PMC article.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C. Ravel JM, et al. Among authors: lambert l. Am J Med Genet A. 2022 Nov;188(11):3343-3349. doi: 10.1002/ajmg.a.62954. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35972031 Free PMC article. Review.
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.
Sloboda N, Lambert L, Ciorna V, Bruel AL, Tran Mau-Them F, Gomola V, Lemelle JL, Klein O, Camoin-Schweitzer MC, Magnavacca M, Legagneur C, Ezsto ML, Bonnet C, Philippe C, Leheup B. Sloboda N, et al. Among authors: lambert l. Mol Genet Genomic Med. 2022 May;10(5):e1869. doi: 10.1002/mgg3.1869. Epub 2022 Mar 23. Mol Genet Genomic Med. 2022. PMID: 35318824 Free PMC article.
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M. Ravel JM, et al. Among authors: lambert l. J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8. J Neurol. 2021. PMID: 33417001
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: lambert l. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Hocquel A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M. Hocquel A, et al. Among authors: lambert l. Neurogenetics. 2022 Oct;23(4):241-255. doi: 10.1007/s10048-022-00695-4. Epub 2022 Jul 5. Neurogenetics. 2022. PMID: 35788923
1,104 results