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Year Number of Results
1987 1
1988 1
1989 1
1995 1
1996 1
2000 1
2002 2
2003 5
2004 2
2005 1
2006 1
2007 4
2008 3
2009 2
2010 1
2012 2
2013 1
2014 1
2015 7
2016 3
2017 3
2018 4
2019 2
2020 10
2021 15
2022 9
2023 7
2024 11

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86 results

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M,… See abstract for full author list ➔ Johannesen KM, et al. Among authors: gerard b, gerard m. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. Among authors: gerard b. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487
Pneumopericardium.
Gerard I, Verhelst D. Gerard I, et al. Lancet. 2002 Sep 7;360(9335):771. doi: 10.1016/S0140-6736(02)09898-7. Lancet. 2002. PMID: 12241835 No abstract available.
Tinnitus and otosclerosis.
Deggouj N, Castelein S, Gerard JM, Decat M, Gersdorff M. Deggouj N, et al. Among authors: gerard jm. B-ENT. 2009;5(4):241-4. B-ENT. 2009. PMID: 20163050 Review.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: gerard m. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: gerard m. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free PMC article.
The memory of airway epithelium damage in smokers and COPD patients.
Carlier FM, Detry B, Lecocq M, Collin AM, Planté-Bordeneuve T, Gérard L, Verleden SE, Delos M, Rondelet B, Janssens W, Ambroise J, Vanaudenaerde BM, Gohy S, Pilette C. Carlier FM, et al. Among authors: gerard l. Life Sci Alliance. 2023 Dec 29;7(3):e202302341. doi: 10.26508/lsa.202302341. Print 2024 Mar. Life Sci Alliance. 2023. PMID: 38158219 Free PMC article.
Airway epithelium damage in acute respiratory distress syndrome.
Gerard L, Lecocq M, Detry B, Bouzin C, Hoton D, Pinto Pereira J, Carlier F, Plante-Bordeneuve T, Gohy S, Lacroix V, Laterre PF, Pilette C. Gerard L, et al. Crit Care. 2024 Oct 30;28(1):350. doi: 10.1186/s13054-024-05127-3. Crit Care. 2024. PMID: 39478566 Free PMC article.
Amyloid-PET imaging predicts functional decline in clinically normal individuals.
Quenon L, Collij LE, Garcia DV, Lopes Alves I, Gérard T, Malotaux V, Huyghe L, Gispert JD, Jessen F, Visser PJ, den Braber A, Ritchie CW, Boada M, Marquié M, Vandenberghe R, Luckett ES, Schöll M, Frisoni GB, Buckley C, Stephens A, Altomare D, Ford L, Birck C, Mett A, Gismondi R, Wolz R, Grootoonk S, Manber R, Shekari M, Lhommel R, Dricot L, Ivanoiu A, Farrar G, Barkhof F, Hanseeuw BJ; AMYPAD Consortium. Quenon L, et al. Among authors: gerard t. Alzheimers Res Ther. 2024 Jun 17;16(1):130. doi: 10.1186/s13195-024-01494-9. Alzheimers Res Ther. 2024. PMID: 38886831 Free PMC article.
86 results