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

Year Number of Results
2002 2
2003 3
2004 2
2005 2
2006 8
2007 7
2008 9
2009 9
2010 13
2011 13
2012 10
2013 13
2014 17
2015 15
2016 9
2017 4
2018 12
2019 10
2020 15
2021 11
2022 12
2023 7
2024 1

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177 results

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Page 1
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Harris HK, et al. Among authors: grammatico p. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. Genet Med. 2021. PMID: 33658631 Free PMC article.
Genetic skin diseases predisposing to basal cell carcinoma.
Castori M, Morrone A, Kanitakis J, Grammatico P. Castori M, et al. Among authors: grammatico p. Eur J Dermatol. 2012 May-Jun;22(3):299-309. doi: 10.1684/ejd.2011.1633. Eur J Dermatol. 2012. PMID: 22391625 Review.
Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.
Castori M, Morlino S, Ghibellini G, Celletti C, Camerota F, Grammatico P. Castori M, et al. Among authors: grammatico p. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):84-96. doi: 10.1002/ajmg.c.31426. Epub 2015 Feb 5. Am J Med Genet C Semin Med Genet. 2015. PMID: 25655119 Review.
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases.
Iaquinta G, Scalzulli E, Angeloni S, Carmosino I, Costa A, Ielo C, Passucci M, Masucci C, Martelli M, Grammatico P, Breccia M. Iaquinta G, et al. Among authors: grammatico p. Leuk Lymphoma. 2023 Oct;64(10):1730-1732. doi: 10.1080/10428194.2023.2232495. Epub 2023 Jul 12. Leuk Lymphoma. 2023. PMID: 37435984 Review.
COL6A5 variants in familial neuropathic chronic itch.
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network; Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. Martinelli-Boneschi F, et al. Among authors: grammatico p. Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343. Brain. 2017. PMID: 28073787
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: grammatico p. Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19. Eur J Hum Genet. 2023. PMID: 36529819 Free PMC article.
177 results