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

Year Number of Results
1980 1
1982 1
1984 1
1985 4
1986 5
1987 7
1988 6
1989 9
1990 1
1991 4
1992 7
1993 1
1994 1
1995 1
1996 3
1998 6
2000 2
2001 3
2002 2
2004 8
2005 5
2006 11
2007 5
2008 7
2009 7
2010 10
2011 9
2012 11
2013 14
2014 12
2015 16
2016 18
2017 7
2018 4
2019 8
2020 8
2021 8
2022 5
2023 12
2024 1

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220 results

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Page 1
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: leheup b. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Sloboda N, Renard E, Lambert L, Bonnet C, Leheup B, Todosi C, Schmitt E, Feillet F, Feigerlova E, Piton A, Journeau P, Klein M, Maillard L, Chelly J, Renaud M. Sloboda N, et al. Among authors: leheup b. Eur J Med Genet. 2023 Nov;66(11):104853. doi: 10.1016/j.ejmg.2023.104853. Epub 2023 Sep 25. Eur J Med Genet. 2023. PMID: 37758169
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
[Noonan syndrome: an enigma].
Limal JM, Bonnet D, Bouc YL, Leheup B, Lyonnet S. Limal JM, et al. Among authors: leheup b. Arch Pediatr. 1998 Jul;5(7):715-8. doi: 10.1016/s0929-693x(98)80049-3. Arch Pediatr. 1998. PMID: 9759268 Review. French. No abstract available.
Pathophysiology of impaired ovarian function in galactosaemia.
Forges T, Monnier-Barbarino P, Leheup B, Jouvet P. Forges T, et al. Among authors: leheup b. Hum Reprod Update. 2006 Sep-Oct;12(5):573-84. doi: 10.1093/humupd/dml031. Epub 2006 Jul 11. Hum Reprod Update. 2006. PMID: 16835432 Review.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. Levaillant L, et al. Among authors: leheup b. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. doi: 10.1210/clinem/dgad119. J Clin Endocrinol Metab. 2023. PMID: 36884306 Free PMC article.
220 results