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Results by year

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

Year Number of Results
1975 1
1976 3
1977 1
1978 3
1979 2
1980 2
1981 1
1984 2
1986 1
1987 1
1988 2
1990 3
1991 2
1992 1
1993 2
1994 1
1996 1
1997 2
1998 6
1999 4
2000 7
2001 2
2002 7
2003 7
2004 7
2005 4
2006 2
2007 4
2008 4
2009 5
2010 12
2011 5
2012 3
2013 7
2014 9
2015 5
2016 4
2017 3
2018 5
2019 6
2020 5
2021 5
2022 3
2023 3
2024 7

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PubMed for id: 593147

158 results

Results by year

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Page 1
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A. Le Caignec C, et al. Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591517 Free PMC article.
Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?
Al Kaissi A, Ben Ghachem M, Ben Chehida F, Hofstaetter JG, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. J Clin Med Res. 2016 Aug;8(8):605-9. doi: 10.14740/jocmr2593w. Epub 2016 Jul 1. J Clin Med Res. 2016. PMID: 27429682 Free PMC article.
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M. Flöttmann R, et al. J Med Genet. 2015 Jul;52(7):476-83. doi: 10.1136/jmedgenet-2015-103108. Epub 2015 Jun 1. J Med Genet. 2015. PMID: 26032025
Langer's mesomelic dysplasia: a case report.
Aggarwal V, Aggarwal N, Venkat B. Aggarwal V, et al. J Pediatr Orthop B. 2014 Mar;23(2):200-2. doi: 10.1097/BPB.0b013e3283642242. J Pediatr Orthop B. 2014. PMID: 23863349 Review.
158 results