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Select item 97160641.

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

María-Pilar López-Garrido, María-Carmen Carrascosa-Romero, Minerva Montero-Hernández, Caridad-María Serrano-Martínez, Francisco Sánchez-Sánchez

Front Genet. 2022; 13: 1005573. Published online 2022 Nov 18. doi: 10.3389/fgene.2022.1005573

PMCID:: PMC9716064

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Select item 94216672.

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

Koji Obara, Erika Abe, Itaru Toyoshima

Mol Syndromol. 2022 Jul; 13(4): 350–359. Published online 2022 Mar 2. doi: 10.1159/000521516

PMCID:: PMC9421667

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Select item 89415673.

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome

Ravi Upadhyay, Claire Ruane, Rachel Umans, Beth A. Pletcher, Aditi Khokhar, Kristin Wong

Case Rep Endocrinol. 2022; 2022: 8542281. Published online 2022 Mar 15. doi: 10.1155/2022/8542281

PMCID:: PMC8941567

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Select item 86864944.

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

Amit Kumar Yadav, Farokh Wadia, Sangeet Gawhale, Sameer Panchal, Pritam Talukder, Mitali Mokashi

J Orthop Case Rep. 2021 Aug; 11(8): 84–86. doi: 10.13107/jocr.2021.v11.i08.2378

PMCID:: PMC8686494

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Select item 73788905.

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

Nagwa E. A. Gaboon, Asia Parveen, Khaled A. Ahmad, Taghreed Shuaib, Jumana Y. Al-Aama, Lereen Abdelwehab, Amina Arif, Naveed Wasif

Front Pediatr. 2020; 8: 383. Published online 2020 Jul 16. doi: 10.3389/fped.2020.00383

PMCID:: PMC7378890

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Select item 44182606.

An Extremely Rare Association of Dyggve–Melchior–Clausen Syndrome with Mania: Coincidence or Comorbidity

Sujita Kumar Kar, Shwetank Bansal, Deepak Kumar

Indian J Psychol Med. 2015 Apr-Jun; 37(2): 226–229. doi: 10.4103/0253-7176.155644

PMCID:: PMC4418260

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Select item 32143277.

A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

Siham Chafai Elalaoui, Tajir Mariam, Ratbi Ilham, Doubaj Yassamine, Sefiani Abdelaziz

Indian J Hum Genet. 2011 May-Aug; 17(2): 97–99. doi: 10.4103/0971-6866.86197

PMCID:: PMC3214327

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Select item 31820298.

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome

Vladimir Kenis, Alexey Baindurashvili, Evgeniy Melchenko, Franz Grill, Ali Al Kaissi

Ger Med Sci. 2011; 9: Doc25. Published online 2011 Sep 20. doi: 10.3205/000148

PMCID:: PMC3182029

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Select item 27820689.

Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Mona S. Aglan, Samia A. Temtamy, Ekram Fateen, Adel M. Ashour, Khamis Eldeeb, Gamal A. Hosny

J Child Orthop. 2009 Dec; 3(6): 451–458. Published online 2009 Oct 9. doi: 10.1007/s11832-009-0211-8

PMCID:: PMC2782068

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Select item 257101610.

Dyggve–Melchior–Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic

Anna B. Osipovich, Jennifer L. Jennings, Qing Lin, Andrew J. Link, H. Earl Ruley

Proc Natl Acad Sci U S A. 2008 Oct 21; 105(42): 16171–16176. Published online 2008 Oct 13. doi: 10.1073/pnas.0804259105

PMCID:: PMC2571016

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Select item 173596411.

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

E Kinning, C Tufarelli, W Winship, M Aldred, R Trembath

J Med Genet. 2005 Dec; 42(12): e70. doi: 10.1136/jmg.2005.033829

PMCID:: PMC1735964

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Select item 173499612.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

C Thauvin-Robinet, V El Ghouzzi, W Chemaitilly, N Dagoneau, O Boute, G Viot, A Megarbane, A Sefiani, A Munnich, M Le Merrer, V Cormier-Daire

J Med Genet. 2002 Oct; 39(10): 714–717. doi: 10.1136/jmg.39.10.714

PMCID:: PMC1734996

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Select item 168517313.

The Dyggve-Melchior-Clausen syndrome.

J Naffah

Am J Hum Genet. 1976 Nov; 28(6): 607–614.

PMCID:: PMC1685173

Summary Page Browse PDF–1.9M Cite

Select item 1012049114.

DMC reports in the 21st century: towards better tools for decision-making

Marc Vandemeulebroecke, Mark Baillie, Ardalan Mirshani, Emmanuel Lesaffre

Trials. 2023; 24: 289. Published online 2023 Apr 21. doi: 10.1186/s13063-023-07290-4

PMCID:: PMC10120491

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Select item 1008561615.

Promising antitumor effects of the curcumin analog DMC-BH on colorectal cancer cells

Gang Liu, Jian Chen, Zhicheng Bao

Aging (Albany NY) 2023 Mar 31; 15(6): 2221–2236. Published online 2023 Mar 24. doi: 10.18632/aging.204610

PMCID:: PMC10085616

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Select item 995662716.

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Abu Bakar, Sulaiman Shams, Nousheen Bibi, Asmat Ullah, Wasim Ahmad, Musharraf Jelani, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Turki S. Abujamel, Absarul Haque, Muhammad Imran Naseer, Bushra Khan

Genes (Basel) 2023 Feb; 14(2): 510. Published online 2023 Feb 17. doi: 10.3390/genes14020510

PMCID:: PMC9956627

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Select item 949424817.

Ultrasonically assisted surface modified CeO₂ nanospindle catalysts for conversion of CO₂ and methanol to DMC

Tachatad Kulthananat, Pattaraporn Kim-Lohsoontorn, Panpailin Seeharaj

Ultrason Sonochem. 2022 Nov; 90: 106164. Published online 2022 Sep 13. doi: 10.1016/j.ultsonch.2022.106164

PMCID:: PMC9494248

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Select item 908721718.

Preparation of polycarbonate diols (PCDLs) from dimethyl carbonate (DMC) and diols catalyzed by KNO₃/γ-Al₂O₃

Menglu Song, Xiangui Yang, Gongying Wang

RSC Adv. 2018 Oct 10; 8(61): 35014–35022. Published online 2018 Oct 12. doi: 10.1039/c8ra07141a

PMCID:: PMC9087217

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Select item 906063219.

Ionic association analysis of LiTDI, LiFSI and LiPF₆ in EC/DMC for better Li-ion battery performances

Christopher L. Berhaut, Daniel Lemordant, Patrice Porion, Laure Timperman, Grégory Schmidt, Mériem Anouti

RSC Adv. 2019 Jan 30; 9(8): 4599–4608. Published online 2019 Feb 6. doi: 10.1039/c8ra08430k

PMCID:: PMC9060632

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Select item 905686020.

Dehydrating agent effect on the synthesis of dimethyl carbonate (DMC) directly from methanol and carbon dioxide

Douglas José Faria, Leonardo Moreira dos Santos, Franciele Longaray Bernard, Ingrid Selbacch Pinto, Maria Angélica Carmona da Motta Resende, Sandra Einloft

RSC Adv. 2020 Sep 16; 10(57): 34895–34902. Published online 2020 Sep 21. doi: 10.1039/d0ra06034h