PubMed (OMIM) for id: 6628

Year	Number of Results
1966	1
1970	1
1972	1
1975	1
1978	1
1980	2
1981	1
1985	2
1987	1
1989	1
1991	1
1996	1
1998	1
1999	1
2003	1
2004	1
2008	1
2009	1
2010	1
2013	1
2014	3
2015	2
2016	2
2024	0

1

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S. Tooley M, et al. Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12. Am J Med Genet A. 2016. PMID: 26971886

2

Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome.

Ramaswamy P, Negus S, Homfray T, De Rooy L. Ramaswamy P, et al. Arch Dis Child Fetal Neonatal Ed. 2016 Jan;101(1):F85. doi: 10.1136/archdischild-2014-307855. Epub 2015 Aug 3. Arch Dis Child Fetal Neonatal Ed. 2016. PMID: 26240113 No abstract available.

3

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Bacrot S, Doyard M, Huber C, Alibeu O, Feldhahn N, Lehalle D, Lacombe D, Marlin S, Nitschke P, Petit F, Vazquez MP, Munnich A, Cormier-Daire V. Bacrot S, et al. Hum Mutat. 2015 Feb;36(2):187-90. doi: 10.1002/humu.22729. Epub 2014 Dec 11. Hum Mutat. 2015. PMID: 25504470

4

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada; Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP. Lynch DC, et al. Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483. Nat Commun. 2014. PMID: 25047197 Free PMC article.

5

Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation.

Watson TA, Arthurs OJ, Muthialu N, Calder AD. Watson TA, et al. Skeletal Radiol. 2014 Feb;43(2):263-6. doi: 10.1007/s00256-013-1732-2. Epub 2013 Oct 8. Skeletal Radiol. 2014. PMID: 24100706

6

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.

Su PH, Chen JY, Chiang CL, Ng YY, Chen SJ. Su PH, et al. Clin Dysmorphol. 2010 Apr;19(2):51-55. doi: 10.1097/MCD.0b013e328335c133. Clin Dysmorphol. 2010. PMID: 20177378

7

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

Zeevaert R, Foulquier F, Dimitrov B, Reynders E, Van Damme-Lombaerts R, Simeonov E, Annaert W, Matthijs G, Jaeken J. Zeevaert R, et al. Hum Mol Genet. 2009 Feb 1;18(3):517-24. doi: 10.1093/hmg/ddn379. Epub 2008 Nov 13. Hum Mol Genet. 2009. PMID: 19008299

8

An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division.

Kittler R, Putz G, Pelletier L, Poser I, Heninger AK, Drechsel D, Fischer S, Konstantinova I, Habermann B, Grabner H, Yaspo ML, Himmelbauer H, Korn B, Neugebauer K, Pisabarro MT, Buchholz F. Kittler R, et al. Nature. 2004 Dec 23;432(7020):1036-40. doi: 10.1038/nature03159. Nature. 2004. PMID: 15616564

9

Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review.

James PA, Aftimos S. James PA, et al. Clin Dysmorphol. 2003 Jan;12(1):63-8. doi: 10.1097/00019605-200301000-00012. Clin Dysmorphol. 2003. PMID: 12514369 Review.

10

Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?

Kirk EP, Arbuckle S, Ramm PL, Adès LC. Kirk EP, et al. Am J Med Genet. 1999 May 21;84(2):120-4. Am J Med Genet. 1999. PMID: 10323736

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