Similar articles for PMID: 22889856

Year	Number of Results
1962	1
1976	1
1979	3
1982	1
2000	1
2001	1
2002	2
2003	2
2004	3
2005	4
2006	9
2007	10
2008	6
2009	10
2010	7
2011	10
2012	11
2013	17
2014	19
2015	17
2016	15
2017	19
2018	15
2019	15
2020	19
2021	16
2022	13
2023	4
2024	0

1

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856

2

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.

Takeyari S, Yamamoto K, Fujiwara M, Ohata Y, Kitaoka T, Kubota T, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Ozono K. Takeyari S, et al. Clin Pediatr Endocrinol. 2023;32(2):105-109. doi: 10.1297/cpe.2022-0076. Epub 2023 Feb 10. Clin Pediatr Endocrinol. 2023. PMID: 37020696 Free PMC article.

3

Börjeson-Forssman-Lehmann syndrome: A case report.

Pan L, Yin F, Chen S, Xiong J, He F, Peng J. Pan L, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Feb 28;48(2):294-301. doi: 10.11817/j.issn.1672-7347.2023.220414. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 36999477 Free PMC article. Chinese, English.

4

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Aleo S, Pezzani L, Milani D, Pezzoli L, Marchisio P, Iascone M. Aleo S, et al. Mol Syndromol. 2023 Jan;13(6):543-550. doi: 10.1159/000524844. Epub 2022 Jun 7. Mol Syndromol. 2023. PMID: 36660030 Free PMC article.

5

ZDHHC15 as a candidate gene for autism spectrum disorder.

Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M. Casellas-Vidal D, et al. Am J Med Genet A. 2023 Apr;191(4):941-947. doi: 10.1002/ajmg.a.63099. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36565021

6

A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.

Shen R, Li Y, Liang A, Li S, Yang C, Huang H. Shen R, et al. BMC Neurol. 2022 Dec 19;22(1):491. doi: 10.1186/s12883-022-03023-3. BMC Neurol. 2022. PMID: 36536324 Free PMC article.

7

[Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].

Wang Q, Yang Y, Liu L, Tie X, Lei H, Zhang L, Che F. Wang Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1111-1115. doi: 10.3760/cma.j.cn511374-20210928-00783. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36184094 Chinese.

8

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Shakarami F, Jahani M, Nouri Z, Tabatabaiefar MA. Shakarami F, et al. Mol Genet Genomic Med. 2022 Oct;10(10):e2034. doi: 10.1002/mgg3.2034. Epub 2022 Aug 13. Mol Genet Genomic Med. 2022. PMID: 35962714 Free PMC article.

9

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C. Gerber CB, et al. Clin Genet. 2022 Sep;102(3):182-190. doi: 10.1111/cge.14173. Epub 2022 Jun 14. Clin Genet. 2022. PMID: 35662002 Free PMC article.

10

Roifman syndrome: a description of further immunological and radiological features.

Clifford D, Moloney F, Leahy TR, Murray DM. Clifford D, et al. BMJ Case Rep. 2022 Apr 21;15(4):e249109. doi: 10.1136/bcr-2022-249109. BMJ Case Rep. 2022. PMID: 35450878 Free PMC article.

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