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

Year Number of Results
1975 1
1991 1
2000 1
2001 1
2002 2
2005 1
2008 1
2009 2
2011 3
2012 1
2013 1
2016 1
2017 1
2023 0

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PubMed (Bookshelf cited) for id: 395592

16 results

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Page 1
Pre- and post-natal growth in two sisters with 3-M syndrome.
Lugli L, Bertucci E, Mazza V, Elmakky A, Ferrari F, Neuhaus C, Percesepe A. Lugli L, et al. Eur J Med Genet. 2016 Apr;59(4):232-6. doi: 10.1016/j.ejmg.2016.01.009. Epub 2016 Feb 2. Eur J Med Genet. 2016. PMID: 26850509
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC. Hanson D, et al. Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028. Epub 2011 Jul 7. Am J Hum Genet. 2011. PMID: 21737058 Free PMC article.
The 3M syndrome.
Huber C, Munnich A, Cormier-Daire V. Huber C, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):143-51. doi: 10.1016/j.beem.2010.08.015. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396581
Hip dislocation in 3-M syndrome: risk of misdiagnosis.
Badina A, Pejin Z, Odent T, Buzescu A, Huber C, Cormier-Daire V, Glorion C, Pannier S. Badina A, et al. Clin Dysmorphol. 2011 Apr;20(2):114-116. doi: 10.1097/MCD.0b013e328343f958. Clin Dysmorphol. 2011. PMID: 21383554 No abstract available.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
Identification of mutations in CUL7 in 3-M syndrome.
Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Huber C, et al. Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4. Nat Genet. 2005. PMID: 16142236
16 results