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

Year Number of Results
1993 1
1996 2
1998 3
1999 2
2000 4
2001 2
2002 1
2003 2
2004 5
2005 2
2006 2
2007 2
2008 2
2009 3
2010 3
2011 3
2012 4
2013 4
2014 3
2015 2
2016 2
2017 1
2018 1
2019 1
2020 2
2021 1
2022 2
2023 2
2024 0

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58 results

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Page 1
Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.
Cotellessa L, Marelli F, Duminuco P, Adamo M, Papadakis GE, Bartoloni L, Sato N, Lang-Muritano M, Troendle A, Dhillo WS, Morelli A, Guarnieri G, Pitteloud N, Persani L, Bonomi M, Giacobini P, Vezzoli V. Cotellessa L, et al. Among authors: bartoloni l. JCI Insight. 2023 Mar 8;8(5):e161998. doi: 10.1172/jci.insight.161998. JCI Insight. 2023. PMID: 36729644 Free PMC article.
Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility.
Göcz B, Rumpler É, Sárvári M, Skrapits K, Takács S, Farkas I, Csillag V, Trinh SH, Bardóczi Z, Ruska Y, Solymosi N, Póliska S, Szőke Z, Bartoloni L, Zouaghi Y, Messina A, Pitteloud N, Anderson RC, Millar RP, Quinton R, Manchishi SM, Colledge WH, Hrabovszky E. Göcz B, et al. Among authors: bartoloni l. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2113749119. doi: 10.1073/pnas.2113749119. Epub 2022 Jun 28. Proc Natl Acad Sci U S A. 2022. PMID: 35763574 Free PMC article.
Towards establishing MS prevalence in Latin America and the Caribbean.
Melcon MO, Melcon CM, Bartoloni L, Cristiano E, Duran JC, Grzesiuk AK, Fragoso YD, Brooks JB, Díaz V, Romero García KM, Cabrera Gomez JA, Abad P, Islas MA, Gracia F, Diaz de Bedoya VF, Ruiz ME, Hackembruch JH, Oehninger C, Ketzoian CN, Soto A; Grupo Colaborativo Multicéntrico para el Estudio de la Esclerosis Multiple en America Latina y el Caribe (GEEMAL). Melcon MO, et al. Among authors: bartoloni l. Mult Scler. 2013 Feb;19(2):145-52. doi: 10.1177/1352458512441985. Epub 2012 Apr 4. Mult Scler. 2013. PMID: 22492129 Review.
SDNN24 Estimation from Semi-Continuous HR Measures.
Morelli D, Rossi A, Bartoloni L, Cairo M, Clifton DA. Morelli D, et al. Among authors: bartoloni l. Sensors (Basel). 2021 Feb 20;21(4):1463. doi: 10.3390/s21041463. Sensors (Basel). 2021. PMID: 33672456 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: bartoloni l. 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.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: bartoloni l. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. Al-Jawahiri R, et al. Among authors: bartoloni l. Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. Genet Med. 2022. PMID: 35341651 Free PMC article.
[Neuropsychiatric symptoms in primary progressive aphasia].
Serrano CM, Dillon C, Castro DM, Iturry M, Rojas GJ, Bartoloni L, Taragano F, Allegri RF. Serrano CM, et al. Among authors: bartoloni l. Rev Neurol. 2010 Jan 1-15;50(1):58-9. Rev Neurol. 2010. PMID: 20073025 Free article. Spanish. No abstract available.
58 results