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

Year Number of Results
1997 2
1998 4
1999 1
2000 3
2001 3
2002 1
2005 1
2006 1
2007 3
2010 1
2011 3
2012 4
2013 4
2014 3
2015 4
2017 4
2018 2
2019 1
2020 4
2021 1
2022 6
2023 3
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53 results
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Page 1
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. Castilla-Vallmanya L, et al. Among authors: pingault v. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. Genet Med. 2020. PMID: 32376980 Free PMC article.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J. Vegas N, et al. Among authors: pingault v. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35170830
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D; University of Washington Center for Mendelian Genomics; Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ. Sobering AK, et al. Among authors: pingault v. HGG Adv. 2022 Mar 26;3(3):100102. doi: 10.1016/j.xhgg.2022.100102. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35469323 Free PMC article.
SOX10 mutations mimic isolated hearing loss.
Pingault V, Faubert E, Baral V, Gherbi S, Loundon N, Couloigner V, Denoyelle F, Noël-Pétroff N, Ducou Le Pointe H, Elmaleh-Bergès M, Bondurand N, Marlin S. Pingault V, et al. Clin Genet. 2015 Oct;88(4):352-9. doi: 10.1111/cge.12506. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25256313
LKB1 specifies neural crest cell fates through pyruvate-alanine cycling.
Radu AG, Torch S, Fauvelle F, Pernet-Gallay K, Lucas A, Blervaque R, Delmas V, Schlattner U, Lafanechère L, Hainaut P, Tricaud N, Pingault V, Bondurand N, Bardeesy N, Larue L, Thibert C, Billaud M. Radu AG, et al. Among authors: pingault v. Sci Adv. 2019 Jul 17;5(7):eaau5106. doi: 10.1126/sciadv.aau5106. eCollection 2019 Jul. Sci Adv. 2019. PMID: 31328154 Free PMC article.
Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.
Paul A, Marlin S, Parodi M, Rouillon I, Guerlain J, Pingault V, Couloigner V, Garabedian EN, Denoyelle F, Loundon N. Paul A, et al. Among authors: pingault v. Audiol Neurootol. 2017;22(2):83-88. doi: 10.1159/000474928. Epub 2017 Jul 22. Audiol Neurootol. 2017. PMID: 28738350
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Mouillé M, Rio M, Breton S, Piketty ML, Afenjar A, Amiel J, Capri Y, Goldenberg A, Francannet C, Michot C, Mignot C, Perrin L, Quelin C, Van Gils J, Barcia G, Pingault V, Maruani G, Koumakis E, Cormier-Daire V. Mouillé M, et al. Among authors: pingault v. Orphanet J Rare Dis. 2022 Mar 3;17(1):100. doi: 10.1186/s13023-022-02229-5. Orphanet J Rare Dis. 2022. PMID: 35241104 Free PMC article.
53 results