Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Authors :Nava C
, Cogne B
, Santini A
, Leitão E
, Lecoquierre F
, Chen Y
, Stenton SL
, Besnard T
, Heide S
, Baer S
, Jakhar A
, Neuser S
, Keren B
, Faudet A
, Forlani S
, Faoucher M
, Uguen K
, Platzer K
, Afenjar A
, Alessandri JL
, Andres S
, Angelini C
, Aral B
, Arveiler B
, Attie-Bitach T
, Aubert Mucca M
, Banneau G
, Barakat TS
, Barcia G
, Baulac S
, Beneteau C
, Benkerdou F
, Bernard V
, Bézieau S
, Bonneau D
, Bonnet-Dupeyron MN
, Boussion S
, Boute O
, Brischoux-Boucher E
, Bryen SJ
, Buratti J
, Busa T
, Caliebe A
, Capri Y
, Cassinari K
, Caumes R
, Cenni C
, Chambon P
, Charles P
, Christodoulou J
, Colson C
, Conrad S
, Cospain A
, Coursimault J
, Courtin T
, Couse M
, Coutton C
, Creveaux I
, D'Gama AM
, Dauriat B
, de Sainte Agathe JM
, Del Gobbo G
, Delahaye-Duriez A
, Delanne J
, Denommé-Pichon AS
, Dieux-Coeslier A
, Do Souto Ferreira L
, Doco-Fenzy M
, Drukewitz S
, Duboc V
, Dubourg C
, Duffourd Y
, Dyment D
, El Chehadeh S
, Elmaleh M
, Faivre L
, Fennelly S
, Fischer H
, Fradin M
, Galludec Vaillant C
, Ganne B
, Ghoumid J
, Goel H
, Gokce-Samar Z
, Goldenberg A
, Gonfreville Robert R
, Gorokhova S
, Goujon L
, Granier V
, Gras M
, Greally JM
, Greiten B
, Gueguen P
, Guerrot AM
, Guha S
, Guimier A
, Haack TB
, Hadj Abdallah H
, Halleb Y
, Harbuz R
, Harris M
, Hentschel J
, Héron B
, Hitz MP
, Innes AM
, Jadas V
, Januel L
, Jean-Marçais N
, Jobanputra V
, Jobic F
, Jornea L
, Jost C
, Julia S
, Kaiser FJ
, Kaschta D
, Kaya S
, Ketteler P
, Khadija B
, Kilpert F
, Knopp C
, Kraft F
, Krey I
, Lackmy M
, Laffargue F
, Lambert L
, Lamont R
, Laugel V
, Laurie S
, Lauzon JL
, Lebreton L
, Lebrun M
, Legendre M
, Leguern E
, Lehalle D
, Lejeune E
, Lesca G
, Lesieur-Sebellin M
, Levy J
, Linglart A
, Lyonnet S
, Lüthy K
, Ma AS
, Mach C
, Mandel JL
, Mansour-Hendili L
, Marcadier J
, Marin V
, Margot H
, Marquet V
, May A
, Mayr JA
, Meridda C
, Michaud V
, Michot C
, Nadeau G
, Naudion S
, Nguyen L
, Nizon M
, Nowak F
, Odent S
, Olin V
, Osei-Owusu IA
, Osmond M
, Õunap K
, Pasquier L
, Passemard S
, Pauly M
, Patat O
, Pensec M
, Perrin-Sabourin L
, Petit F
, Philippe C
, Planes M
, Poduri A
, Poirsier C
, Pouzet A
, Prince B
, Prouteau C
, Pujol A
, Racine C
, Rama M
, Ramond F
, Ranguin K
, Raway M
, Reis A
, Renaud M
, Revencu N
, Richard AC
, Riera-Navarro L
, Rius R
, Rodriguez D
, Rodriguez-Palmero A
, Rondeau S
, Roser-Unruh A
, Rougeot Jung C
, Safraou H
, Satre V
, Saugier-Veber P
, Sauvestre C
, Schaefer E
, Shao W
, Schanze I
, Schlump JU
, Schlüter Martin A
, Schluth-Bolard C
, Schuhmann S
, Schröder C
, Sebastin M
, Sigaudy S
, Spielmann M
, Spodenkiewicz M
, St Clair L
, Steffann J
, Stoeva R
, Surowy H
, Tarnopolsky MA
, Todosi C
, Toutain A
, Tran Mau-Them F
, Unterlauft A
, Van-Gils J
, Vanlerberghe C
, Vasileiou G
, Vera G
, Verdel A
, Verloes A
, Vial Y
, Vignal C
, Vincent M
, Vincent-Delorme C
, Vincent-Devulder A
, Vitobello A
, Weber S
, Willems M
, Zaafrane-Khachnaoui K
, Zacher P
, Zeltner L
, Ziegler A
, Galej WP
, Dollfus H
, Thauvin C
, Boycott KM
, Marijon P
, Lermine A
, Malan V
, Rio M
, Kuechler A
, Isidor B
, Drunat S
, Smol T
, Chatron N
, Piton A
, Nicolas G
, Wagner M
, Abou Jamra R
, Héron D
, Mignot C
, Blanc P
, O'Donnell-Luria A
, Whiffin N
, Charbonnier C
, Charenton C
, Thevenon J
, Depienne C
Published On :2025 Jun
Journal Article
Consensus Report of the 20th European Workshop on Periodontology: Contemporary and Emerging Technologies in Periodontal Diagnosis.
Authors :Herrera D
, Tonetti MS
, Chapple I
, Kebschull M
, Papapanou PN
, Sculean A
, Abusleme L
, Aimetti M
, Belibasakis G
, Blanco J
, Bostanci N
, Bouchard P
, Buduneli N
, Calciolari E
, Carra MC
, Chackartchi T
, Dannewitz B
, Danser M
, Deng K
, Derks J
, Dietrich T
, Discepoli N
, Divaris K
, Dommisch H
, Donos N
, Dutzan N
, Eickholz P
, Eren Kuru B
, Faria Almeida R
, Farina R
, Feher B
, Figuero E
, Giannobile W
, Gosset M
, Graziani F
, Gursoy UK
, Hagenfeld D
, Jepsen K
, Jepsen S
, Kumar P
, Laine ML
, Lambert F
, Lang NP
, Li Y
, Loos B
, Madianos P
, Matesanz P
, Mealey B
, Molina A
, Montero E
, Nibali L
, Preshaw P
, Rakic M
, Ramseier C
, Salvi G
, Sánchez N
, Sanz-Sánchez I
, Shapira L
, Stavropoulos A
, Tamimi F
, Teughels W
, Tomasi C
, Trombelli L
, Vassilopoulos S
, Verket A
, West N
, Windisch P
, Sanz M
Published On :2025 Aug
Journal Article
Consensus Development Conference