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

Year Number of Results
1985 2
1986 1
1987 1
1988 1
1990 1
1991 3
1992 1
1993 5
1994 7
1995 2
1996 1
1997 5
1998 9
1999 2
2000 5
2001 2
2002 2
2003 7
2004 4
2005 2
2006 4
2007 5
2008 1
2009 8
2010 6
2011 7
2012 5
2013 8
2014 8
2015 6
2016 4
2017 7
2018 2
2019 4
2020 4
2021 3
2022 2
2023 1
2024 1

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140 results

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Page 1
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.
Walker K, Mistry A, Watson CM, Nadat F, O'Callaghan E, Care M, Crinnion LA, Arumugakani G, Bonthron DT, Carter C, Doody GM, Savic S. Walker K, et al. Among authors: bonthron dt. J Clin Immunol. 2023 Oct;43(7):1543-1556. doi: 10.1007/s10875-023-01511-w. Epub 2023 May 29. J Clin Immunol. 2023. PMID: 37246174 Free PMC article.
Autozygosity mapping with exome sequence data.
Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942
A human parthenogenetic chimaera.
Strain L, Warner JP, Johnston T, Bonthron DT. Strain L, et al. Among authors: bonthron dt. Nat Genet. 1995 Oct;11(2):164-9. doi: 10.1038/ng1095-164. Nat Genet. 1995. PMID: 7550344
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Chai G, et al. Among authors: bonthron dt. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20. Neuron. 2021. PMID: 33220177 Free PMC article.
Cantú syndrome with coexisting familial pituitary adenoma.
Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M. Marques P, et al. Among authors: bonthron dt. Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11. Endocrine. 2018. PMID: 29327300 Free PMC article.
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA. Parry DA, et al. Among authors: bonthron dt. Am J Hum Genet. 2013 Dec 5;93(6):1135-42. doi: 10.1016/j.ajhg.2013.10.027. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290375 Free PMC article. Review.
GNAS1 mutational analysis in pseudohypoparathyroidism.
Ahmed SF, Dixon PH, Bonthron DT, Stirling HF, Barr DG, Kelnar CJ, Thakker RV. Ahmed SF, et al. Among authors: bonthron dt. Clin Endocrinol (Oxf). 1998 Oct;49(4):525-31. Clin Endocrinol (Oxf). 1998. PMID: 9876352
140 results