Similar articles for PMID: 28513610

Year	Number of Results
1968	1
1989	1
1994	1
1995	1
1997	4
1998	2
1999	2
2000	1
2001	3
2002	1
2003	1
2004	2
2005	2
2007	3
2008	3
2009	4
2010	3
2011	4
2012	6
2013	7
2014	11
2015	9
2016	12
2017	18
2018	15
2019	11
2020	12
2021	7
2022	8
2023	1
2024	0

1

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. Weiss K, et al. Eur J Hum Genet. 2017 Aug;25(8):946-951. doi: 10.1038/ejhg.2017.86. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513610 Free PMC article.

2

Phenotype delineation of ZNF462 related syndrome.

Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.

3

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.

Cosemans N, Vandenhove L, Maljaars J, Van Esch H, Devriendt K, Baldwin A, Fryns JP, Noens I, Peeters H. Cosemans N, et al. Eur J Med Genet. 2018 Jul;61(7):376-383. doi: 10.1016/j.ejmg.2018.02.002. Epub 2018 Feb 7. Eur J Med Genet. 2018. PMID: 29427787

4

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG. Stevens SJ, et al. Genome Med. 2016 Dec 13;8(1):131. doi: 10.1186/s13073-016-0386-9. Genome Med. 2016. PMID: 27964749 Free PMC article.

5

Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.

Iivonen AP, Kärkinen J, Yellapragada V, Sidoroff V, Almusa H, Vaaralahti K, Raivio T. Iivonen AP, et al. Eur J Endocrinol. 2021 May 21;185(1):57-66. doi: 10.1530/EJE-20-1387. Eur J Endocrinol. 2021. PMID: 33909591 Free PMC article.

6

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K. Revah-Politi A, et al. Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22. Am J Med Genet A. 2017. PMID: 28941020

7

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.

Ribeiro-Bicudo LA, Quiezi RG, Guion-Almeida ML, Legnaro C, Richieri-Costa A. Ribeiro-Bicudo LA, et al. Am J Med Genet A. 2012 May;158A(5):1233-5. doi: 10.1002/ajmg.a.35305. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22496059 No abstract available.

8

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Perlman SJ, Kulkarni S, Manwaring L, Shinawi M. Perlman SJ, et al. Am J Med Genet A. 2013 Apr;161A(4):711-6. doi: 10.1002/ajmg.a.35779. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23494996

9

De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.

Chen CP, Lin SP, Huang YL, Chern SR, Su JW, Lee CC, Chen WL, Wang W. Chen CP, et al. Genet Couns. 2012;23(4):497-503. Genet Couns. 2012. PMID: 23431751

10

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S. Alby C, et al. Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. Am J Med Genet A. 2018. PMID: 29681083

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