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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 5
1986 13
1987 5
1988 3
1989 8
1990 3
1991 1
1992 1
1993 2
1994 2
1995 2
1996 1
1997 1
2000 2
2001 2
2003 2
2004 3
2005 2
2006 3
2007 2
2008 4
2009 6
2010 7
2011 2
2012 2
2013 4
2014 3
2015 4
2016 5
2017 3
2018 4
2019 10
2020 2
2021 1
2022 0
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109 results
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Page 1
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Among authors: journel h. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
[Syndromic mental retardation].
Odent S, Pasquier L, de la Rochebrochard C, Journel H, Lazaro L. Odent S, et al. Among authors: journel h. Arch Pediatr. 2008 Jun;15(5):705-7. doi: 10.1016/S0929-693X(08)71882-7. Arch Pediatr. 2008. PMID: 18582721 French. No abstract available.
Karyotype is not dead (yet)!
Pasquier L, Fradin M, Chérot E, Martin-Coignard D, Colin E, Journel H, Demurger F, Akloul L, Quélin C, Jauffret V, Lucas J, Belaud-Rotureau MA, Odent S, Jaillard S. Pasquier L, et al. Among authors: journel h. Eur J Med Genet. 2016 Jan;59(1):11-5. doi: 10.1016/j.ejmg.2015.11.016. Epub 2015 Dec 10. Eur J Med Genet. 2016. PMID: 26691665
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: journel h. J Med Genet. 2021 Dec 15:jmedgenet-2021-107751. doi: 10.1136/jmedgenet-2021-107751. Online ahead of print. J Med Genet. 2021. PMID: 34930816
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Lecoquierre F, Brehin AC, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, De Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, van Ravenswaaij-Arts C, Frebourg T, Saugier-Veber P, Gruchy N, Nicolas G, Gerard M. Lecoquierre F, et al. Among authors: journel h. Hum Mutat. 2020 May;41(5):926-933. doi: 10.1002/humu.23998. Epub 2020 Mar 1. Hum Mutat. 2020. PMID: 32058622
Outcomes of intra-detrusor injections of botulinum toxin in patients with spina bifida: A systematic review.
Hascoet J, Manunta A, Brochard C, Arnaud A, Damphousse M, Menard H, Kerdraon J, Journel H, Bonan I, Odent S, Fremond B, Siproudhis L, Gamé X, Peyronnet B; French Referral Network of Spina Bifida. Hascoet J, et al. Among authors: journel h. Neurourol Urodyn. 2017 Mar;36(3):557-564. doi: 10.1002/nau.23025. Epub 2016 May 17. Neurourol Urodyn. 2017. PMID: 27187872 Review.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L. Juven A, et al. Among authors: journel h. Eur J Hum Genet. 2020 Aug;28(8):1044-1055. doi: 10.1038/s41431-020-0582-3. Epub 2020 Feb 18. Eur J Hum Genet. 2020. PMID: 32071410 Free PMC article. Review.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. El Khattabi L, et al. Among authors: journel h. Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847481 Free article. Review.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Among authors: journel h. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Genet Med. 2019. PMID: 30206421 Free PMC article.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G. Lagrue E, et al. Among authors: journel h. Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18. Neurology. 2019. PMID: 30659139
109 results