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1974 1
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Page 1
[Cerebrocostomandibular syndrome].
Sahyoun S, Bitar F, Gebran S, Ghosn JA, Khalil DA, Haddad J. Sahyoun S, et al. Arch Pediatr. 1998 Nov;5(11):1288-9. doi: 10.1016/s0929-693x(98)81251-7. Arch Pediatr. 1998. PMID: 9853072 French. No abstract available.
[The cerebrocostomandibular syndrome].
Cohnen M, Reksten O, Kemperdick H. Cohnen M, et al. Rofo. 1999 Aug;171(2):160-2. doi: 10.1055/s-1999-236. Rofo. 1999. PMID: 10506892 Review. German. No abstract available.
Cerebrocostomandibular syndrome. Case report and literature review.
Smith KG, Sekar KC. Smith KG, et al. Clin Pediatr (Phila). 1985 Apr;24(4):223-5. doi: 10.1177/000992288502400411. Clin Pediatr (Phila). 1985. PMID: 3978982
Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, mental deficiency. ...
Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, mental defi …
The cerebrocostomandibular syndrome.
Langer LO Jr, Herrmann J. Langer LO Jr, et al. Birth Defects Orig Artic Ser. 1974;10(7):167-70. Birth Defects Orig Artic Ser. 1974. PMID: 4418316 No abstract available.
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
The costovertebral dysplasia of the two patients has been described in cerebrocostomandibular syndrome (CCMS), but also in cerebrofaciothoracic dysplasia and spondylocostal dysostosis. ...
The costovertebral dysplasia of the two patients has been described in cerebrocostomandibular syndrome (CCMS), but also in cer …
Cerebrocostomandibular syndrome in four sibs, two pairs of twins.
Drossou-Agakidou V, Andreou A, Soubassi-Griva V, Pandouraki M. Drossou-Agakidou V, et al. J Med Genet. 1991 Oct;28(10):704-7. doi: 10.1136/jmg.28.10.704. J Med Genet. 1991. PMID: 1941967 Free PMC article.
We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All four babies had the characteristic features of CCMS, including Pierre-Robin anomalad and rib dysplasia. ...
We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All fou …
[The cerebrocostomandibular syndrome].
Casas Gómez J, Fuster Soler JL, García-Plata González C, Esteban Marfil V, Vidales Blanco MA, Carames Varela M. Casas Gómez J, et al. An Esp Pediatr. 1996 Apr;44(4):369-72. An Esp Pediatr. 1996. PMID: 8849091 Review. Spanish. No abstract available.
Total absence of ribs in a newborn with cerebrocostomandibular syndrome.
Lale S, Ardinger H, Mardis N, Changho S, Lancaster T, Singh V. Lale S, et al. Pediatr Dev Pathol. 2011 Mar-Apr;14(2):134-7. doi: 10.2350/09-11-0745-CR.1. Epub 2010 Jul 26. Pediatr Dev Pathol. 2011. PMID: 20658933
Total absence of ribs is a rare finding that has occasionally been documented in patients with cerebrocostomandibular syndrome. Only 2 other reports document complete absence of ribs in 3 individuals, and we tabulate the findings of all the 4 cases of complete absen …
Total absence of ribs is a rare finding that has occasionally been documented in patients with cerebrocostomandibular syndrome …
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker SA, Lawlor JMJ, Hiatt SM, Thompson ML, Latner DR, Finnila CR, Bowling KM, Bonnstetter ZT, Bonini KE, Kelly NR, Kelley WV, Hurst ACE, Rashid S, Kelly MA, Nakouzi G, Hendon LG, Bebin EM, Kenny EE, Cooper GM. Felker SA, et al. Genet Med. 2023 Aug;25(8):100884. doi: 10.1016/j.gim.2023.100884. Epub 2023 May 6. Genet Med. 2023. PMID: 37161864
Five of these variants are in genes that are part of the sodium voltage-gated channel alpha subunit family (SCN1A, SCN2A, and SCN8A), which is associated with epilepsies. One variant is in SNRPB, associated with cerebrocostomandibular syndrome. These variants have m …
Five of these variants are in genes that are part of the sodium voltage-gated channel alpha subunit family (SCN1A, SCN2A, and SCN8A), which …
A review of craniofacial disorders caused by spliceosomal defects.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. Lehalle D, et al. Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1. Clin Genet. 2015. PMID: 25865758 Review.
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocost …
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified i …
34 results