PubMed for id: 120527

Year	Number of Results
1971	1
1975	1
1976	3
1977	3
1978	2
1979	1
1980	2
1981	2
1982	2
1983	2
1984	2
1990	1
1991	1
1992	2
1994	2
1995	3
1997	1
1998	3
1999	1
2001	3
2002	8
2003	8
2004	4
2005	13
2006	12
2007	14
2008	15
2009	9
2010	14
2011	16
2012	16
2013	9
2014	24
2015	23
2016	10
2017	13
2018	20
2019	15
2020	18
2021	29
2022	31
2023	181
2024	3

1

The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

Yunis JJ, Yunis LK. Yunis JJ, et al. Clin Genet. 2023 Jun;103(6):720-722. doi: 10.1111/cge.14301. Epub 2023 Jan 26. Clin Genet. 2023. PMID: 36650946

2

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

López-Garrido MP, Carrascosa-Romero MC, Montero-Hernández M, Serrano-Martínez CM, Sánchez-Sánchez F. López-Garrido MP, et al. Front Genet. 2022 Nov 18;13:1005573. doi: 10.3389/fgene.2022.1005573. eCollection 2022. Front Genet. 2022. PMID: 36468000 Free PMC article.

3

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Obara K, Abe E, Toyoshima I. Obara K, et al. Mol Syndromol. 2022 Jul;13(4):350-359. doi: 10.1159/000521516. Epub 2022 Mar 2. Mol Syndromol. 2022. PMID: 36158050 Free PMC article.

4

[Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene].

Kuang L, Peng R, Liu B, Xi D, Chang Q, Gao Y. Kuang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):370-373. doi: 10.3760/cma.j.cn511374-20210127-00084. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35446968 Chinese.

5

A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.

Upadhyay R, Ruane C, Umans R, Pletcher BA, Khokhar A, Wong K. Upadhyay R, et al. Case Rep Endocrinol. 2022 Mar 15;2022:8542281. doi: 10.1155/2022/8542281. eCollection 2022. Case Rep Endocrinol. 2022. PMID: 35340400 Free PMC article.

6

Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.

Yadav AK, Wadia F, Gawhale S, Panchal S, Talukder P, Mokashi M. Yadav AK, et al. J Orthop Case Rep. 2021 Aug;11(8):84-86. doi: 10.13107/jocr.2021.v11.i08.2378. J Orthop Case Rep. 2021. PMID: 35004383 Free PMC article.

7

Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome.

Shah A, Bhambere S, Ranjan S, Dandpat S, Goel A. Shah A, et al. Turk Neurosurg. 2020;30(6):956-960. doi: 10.5137/1019-5149.JTN.31923-20.1. Turk Neurosurg. 2020. PMID: 33216345 Free article.

8

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Abdullah, Shah PW, Nawaz S, Hussain S, Ullah A, Basit S, Ahmad W. Abdullah, et al. Mol Biol Rep. 2020 Sep;47(9):7083-7088. doi: 10.1007/s11033-020-05774-z. Epub 2020 Sep 4. Mol Biol Rep. 2020. PMID: 32886330

9

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Gaboon NEA, Parveen A, Ahmad KA, Shuaib T, Al-Aama JY, Abdelwehab L, Arif A, Wasif N. Gaboon NEA, et al. Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020. Front Pediatr. 2020. PMID: 32766185 Free PMC article.

10

An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity.

Kar SK, Bansal S, Kumar D. Kar SK, et al. Indian J Psychol Med. 2015 Apr-Jun;37(2):226-9. doi: 10.4103/0253-7176.155644. Indian J Psychol Med. 2015. PMID: 25969613 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

500 results

Results by year