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

Year Number of Results
1998 1
1999 1
2000 7
2001 4
2002 5
2003 4
2004 5
2005 8
2006 10
2007 13
2008 3
2009 10
2010 10
2011 10
2012 17
2013 11
2014 9
2015 14
2016 8
2017 9
2018 14
2019 9
2020 16
2021 15
2022 14
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Search Results

197 results
Results by year
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Page 1
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Among authors: attie bitach t. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Zanoni P, et al. Among authors: attie bitach t. Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3. Genet Med. 2021. PMID: 33941880 Free PMC article.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Among authors: attie bitach t. Nat Genet. 2022 Jan;54(1):62-72. doi: 10.1038/s41588-021-00970-4. Epub 2021 Dec 13. Nat Genet. 2022. PMID: 34903892
Re-focusing on Agnathia-Otocephaly complex.
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J. Dubucs C, et al. Among authors: attie bitach t. Clin Oral Investig. 2021 Mar;25(3):1353-1362. doi: 10.1007/s00784-020-03443-w. Epub 2020 Jul 9. Clin Oral Investig. 2021. PMID: 32643087 Review.
Heterogeneity in defining fetal corpus callosal pathology: systematic review.
Mahallati H, Sotiriadis A, Celestin C, Millischer AE, Sonigo P, Grevent D, O'Gorman N, Bahi-Buisson N, Attié-Bitach T, Ville Y, Salomon LJ. Mahallati H, et al. Among authors: attie bitach t. Ultrasound Obstet Gynecol. 2021 Jul;58(1):11-18. doi: 10.1002/uog.22179. Epub 2021 Jun 9. Ultrasound Obstet Gynecol. 2021. PMID: 32798278
Functional Vision Analysis in Patients With CHARGE Syndrome.
Martin GC, Robert MP, Challe G, Trinh NTH, Attié-Bitach T, Brémond-Gignac D, Bodaghi B, Abadie V. Martin GC, et al. Among authors: attie bitach t. J Pediatr Ophthalmol Strabismus. 2020 Mar 1;57(2):120-128. doi: 10.3928/01913913-20200207-02. J Pediatr Ophthalmol Strabismus. 2020. PMID: 32203596 Free article.
Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C. Gorokhova S, et al. Among authors: attie bitach t. Genet Med. 2019 Nov;21(11):2654-2655. doi: 10.1038/s41436-019-0546-6. Epub 2019 May 20. Genet Med. 2019. PMID: 31105273 Free article. No abstract available.
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Chartier S, et al. Among authors: attie bitach t. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7. Birth Defects Res. 2021. PMID: 34491000
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, Goldstein AM, Davey MG, Hofstra RMW, Thapar N, Burns AJ. Delalande JM, et al. Among authors: attie bitach t. Front Mol Neurosci. 2021 Dec 23;14:757646. doi: 10.3389/fnmol.2021.757646. eCollection 2021. Front Mol Neurosci. 2021. PMID: 35002618 Free PMC article.
197 results