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Page 1
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G. Soldovieri MV, et al. Among authors: lambert l. Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13. Hum Mutat. 2014. PMID: 24375629
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Cousin MA, et al. Among authors: lambert l. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4. Genome Med. 2022. PMID: 35698242 Free PMC article.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Coursimault J, et al. Among authors: lambert l. Hum Mutat. 2022 Dec;43(12):1882-1897. doi: 10.1002/humu.24438. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842780
Six-Month Outcomes in the Long-Term Outcomes After the Multisystem Inflammatory Syndrome in Children Study.
Truong DT, Trachtenberg FL, Hu C, Pearson GD, Friedman K, Sabati AA, Dionne A, Oster ME, Anderson BR, Block J, Bradford TT, Campbell MJ, D'Addese L, Dummer KB, Elias MD, Forsha D, Garuba OD, Hasbani K, Hayes K, Hebson C, Jone PN, Krishnan A, Lang S, McCrindle BW, McHugh KE, Mitchell EC, Morrison T, Muniz JC, Payne RM, Portman MA, Russell MW, Sanil Y, Shakti D, Sharma K, Shea JR, Sykes M, Shekerdemian LS, Szmuszkovicz J, Thacker D, Newburger JW; MUSIC Study Investigators. Truong DT, et al. JAMA Pediatr. 2025 Jan 13. doi: 10.1001/jamapediatrics.2024.5466. Online ahead of print. JAMA Pediatr. 2025. PMID: 39804656
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A. Jeanne M, et al. Among authors: lambert l. J Med Genet. 2025 Jan 11:jmg-2022-108868. doi: 10.1136/jmg-2022-108868. Online ahead of print. J Med Genet. 2025. PMID: 39798962
Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series.
Clément G, Puisieux S, Ashton C, Pellerin D, Danzi MC, Bonnet C, Roth V, Wandzel M, Hocquel A, Pourié C, Dreumont N, Lambert L, Houlden H, Zuchner S, Brais B, Rejeb IB, Frismand S, Renaud M. Clément G, et al. Among authors: lambert l. Can J Neurol Sci. 2024 Dec 9:1-3. doi: 10.1017/cjn.2024.355. Online ahead of print. Can J Neurol Sci. 2024. PMID: 39648743 No abstract available.
Evaluation of waning of IgG antibody responses after rVSVΔG-ZEBOV-GP and Ad26.ZEBOV, MVA-BN-Filo Ebola virus disease vaccines: a modelling study from the PREVAC randomized trial.
Valayer S, Alexandre M, Prague M, Beavogui AH, Doumbia S, Kieh M, Greenwood B, Leigh B, Poupelin M, Schwimmer C, Sow SO, Berry IM, Kuhn JH, Fusco D, Cauwelaert ND, Watson-Jones D, Thiébaut R, Lévy Y, Yazdanpanah Y, Richert L, Lhomme E; PREVAC Study Team; Aboulhab J, Aguirre-MacKenzie M BS, Akoo P MB, ChB, Akpa E MSN, MPH, RN, Akpata R, Albert S BA, MPH, Ale BM MD, MSc, MPH, Alimamy-Bangura S MB, ChB, Andong P MSt, Andrews BC, Anoma S, Atri N MPH, CPH, Augier A MCom, Awuondo K MSc, Ayouba A, Badio M MSc, Bagayoko A, Balde A MPH, Balssa J PharmD, Bangura LM BSc, Barrington K MPA, Barte de Saint Fare E BA, Baseler B MS, Bauder A BA, PMP, Bauduin C MSc, Bawo L MSc, Beavogui AH MD, PhD, Belson M BS, Ben-Farhat S MEng, Bererd M BS, Bernaud N MSc, Beyslow T PharmD, Biai N MSc, Billioux J, Billouin-Frazier S MSc, Binachon B MD, MPH, Blie J MSc, Bockstal V, Boison P MS, Bolay F, Boly A MM, Bonawitz RE MD, MS, Borg AG MCM, Bosompem S PharmD, MSc, Bozman C MSc, Brady T MPH, Browne S RN, BSN, Bullis R, Cagniard B, Cahill K RN, MSc, CCRC, RAC, Cai Y, Camara AA MSc, Camara AK, Camara AM, Campagne A, Campion C MSc, Cantan A BSc, Cash J BS, Chai SP BBio-MedSc, Chambelin F MHist, Chea M BSc, Chêne… See abstract for full author list ➔ Valayer S, et al. Among authors: lambert l bs. Emerg Microbes Infect. 2025 Dec;14(1):2432353. doi: 10.1080/22221751.2024.2432353. Epub 2024 Dec 9. Emerg Microbes Infect. 2025. PMID: 39559990 Free PMC article. Clinical Trial.
1,106 results