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Items: 10

1.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C.

Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Aug;17(8):686. Szaskon, Kateline [corrected to Szakszon, Kateline].

PMID:
25790162
2.

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U.

Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27.

PMID:
25348728
3.

Treacher Collins Syndrome: the genetics of a craniofacial disease.

Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y.

Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):893-8. doi: 10.1016/j.ijporl.2014.03.006. Epub 2014 Mar 13. Review.

PMID:
24690222
4.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B.

Genet Med. 2014 Sep;16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6.

PMID:
24603435
5.

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D.

Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.

PMID:
21131976
6.

Treacher Collins Syndrome.

Katsanis SH, Jabs EW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Jul 20 [updated 2012 Aug 30].

7.

Rrn3 becomes inactivated in the process of ribosomal DNA transcription.

Hirschler-Laszkiewicz I, Cavanaugh AH, Mirza A, Lun M, Hu Q, Smink T, Rothblum LI.

J Biol Chem. 2003 May 23;278(21):18953-9. Epub 2003 Mar 19.

8.

A kinetic framework for a mammalian RNA polymerase in vivo.

Dundr M, Hoffmann-Rohrer U, Hu Q, Grummt I, Rothblum LI, Phair RD, Misteli T.

Science. 2002 Nov 22;298(5598):1623-6.

9.

Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.

Hu P, Wu S, Sun Y, Yuan CC, Kobayashi R, Myers MP, Hernandez N.

Mol Cell Biol. 2002 Nov;22(22):8044-55.

10.

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