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

Year Number of Results
1995 2
1996 1
1997 2
1998 1
1999 1
2000 1
2004 2
2005 2
2006 2
2007 2
2008 4
2009 4
2011 2
2012 5
2013 5
2014 9
2015 3
2016 2
2017 3
2018 5
2019 1
2020 1
2022 2
2023 2
2024 1

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55 results

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Page 1
[Genetic testing in the fetus and child].
Bartholdi D, Miny P. Bartholdi D, et al. Ther Umsch. 2013 Nov;70(11):621-31. doi: 10.1024/0040-5930/a000457. Ther Umsch. 2013. PMID: 24168795 Review. German.
Late-onset severe long QT syndrome.
Asatryan B, Schaller A, Bartholdi D, Medeiros-Domingo A. Asatryan B, et al. Among authors: bartholdi d. Ann Noninvasive Electrocardiol. 2018 Jul;23(4):e12517. doi: 10.1111/anec.12517. Epub 2017 Nov 30. Ann Noninvasive Electrocardiol. 2018. PMID: 29194874 Free PMC article.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS, Xu C, Papadakis GE, Niederländer NJ, Rademaker JD, Meylan J, Messina A, Kolesinska Z, Quinton R, Lang-Muritano M, Bartholdi D, Halperin I, De Geyter C, Bouligand J, Bartoloni L, Young J, Santoni FA, Pitteloud N. Acierno JS, et al. Among authors: bartholdi d. Genet Med. 2020 Nov;22(11):1759-1767. doi: 10.1038/s41436-020-0896-0. Epub 2020 Jul 29. Genet Med. 2020. PMID: 32724172 Free article.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR. Di Lazzaro Filho R, et al. Among authors: bartholdi d. J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055165
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: bartholdi d. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Further delineation of the SATB2 phenotype.
Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D. Döcker D, et al. Among authors: bartholdi d. Eur J Hum Genet. 2014 Aug;22(8):1034-9. doi: 10.1038/ejhg.2013.280. Epub 2013 Dec 4. Eur J Hum Genet. 2014. PMID: 24301056 Free PMC article.
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L. Hofstaetter C, et al. Among authors: bartholdi d. Clin Case Rep. 2018 Jan 17;6(2):420-425. doi: 10.1002/ccr3.1368. eCollection 2018 Feb. Clin Case Rep. 2018. PMID: 29445489 Free PMC article.
55 results