144 related articles for article (PubMed ID: 14517542)
1. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Varon R; Gooding R; Steglich C; Marns L; Tang H; Angelicheva D; Yong KK; Ambrugger P; Reinhold A; Morar B; Baas F; Kwa M; Tournev I; Guerguelcheva V; Kremensky I; Lochmüller H; Müllner-Eidenböck A; Merlini L; Neumann L; Bürger J; Walter M; Swoboda K; Thomas PK; von Moers A; Risch N; Kalaydjieva L
Nat Genet; 2003 Oct; 35(2):185-9. PubMed ID: 14517542
[TBL] [Abstract][Full Text] [Related]
2. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
Angelicheva D; Turnev I; Dye D; Chandler D; Thomas PK; Kalaydjieva L
Eur J Hum Genet; 1999 Jul; 7(5):560-6. PubMed ID: 10439962
[TBL] [Abstract][Full Text] [Related]
3. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
Shabo G; Scheffer H; Cruysberg JR; Lammens M; Pasman JW; Spruit M; Willemsen MA
Pediatr Neurol; 2005 Oct; 33(4):277-9. PubMed ID: 16194727
[TBL] [Abstract][Full Text] [Related]
4. Congenital cataracts, facial dysmorphism, and neuropathy syndrome.
Tzifi F; Pons R; Athanassaki C; Poulou M; Kanavakis E
Pediatr Neurol; 2011 Sep; 45(3):206-8. PubMed ID: 21824574
[TBL] [Abstract][Full Text] [Related]
5. [Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report].
Siska E; Neuwirth M; Rebecca G; Molnár MJ
Ideggyogy Sz; 2007 May; 60(5-6):257-62. PubMed ID: 17578274
[TBL] [Abstract][Full Text] [Related]
6. Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis; 2006 Aug; 1():32. PubMed ID: 16939648
[TBL] [Abstract][Full Text] [Related]
7. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
[TBL] [Abstract][Full Text] [Related]
8. Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Merlini L; Gooding R; Lochmüller H; Müller-Felber W; Walter MC; Angelicheva D; Talim B; Hallmayer J; Kalaydjieva L
Neurology; 2002 Jan; 58(2):231-6. PubMed ID: 11805249
[TBL] [Abstract][Full Text] [Related]
9. Enhanced binding of RNAP II CTD phosphatase FCP1 to RAP74 following CK2 phosphorylation.
Abbott KL; Renfrow MB; Chalmers MJ; Nguyen BD; Marshall AG; Legault P; Omichinski JG
Biochemistry; 2005 Mar; 44(8):2732-45. PubMed ID: 15723518
[TBL] [Abstract][Full Text] [Related]
10. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R; Hershkovitz E; Grossman N; Gorodischer R; Loeys B; Zecic A; Mortier G; Gregory S; Sharony R; Kambouris M; Sakati N; Meyer BF; Al Aqeel AI; Al Humaidan AK; Al Zanhrani F; Al Swaid A; Al Othman J; Diaz GA; Weiner R; Khan KT; Gordon R; Gelb BD;
Nat Genet; 2002 Nov; 32(3):448-52. PubMed ID: 12389028
[TBL] [Abstract][Full Text] [Related]
11. Cloning and characterization of a novel RNA polymerase II C-terminal domain phosphatase.
Zheng H; Ji C; Gu S; Shi B; Wang J; Xie Y; Mao Y
Biochem Biophys Res Commun; 2005 Jun; 331(4):1401-7. PubMed ID: 15883030
[TBL] [Abstract][Full Text] [Related]
12. Interactions of the HIV-1 Tat and RAP74 proteins with the RNA polymerase II CTD phosphatase FCP1.
Abbott KL; Archambault J; Xiao H; Nguyen BD; Roeder RG; Greenblatt J; Omichinski JG; Legault P
Biochemistry; 2005 Mar; 44(8):2716-31. PubMed ID: 15723517
[TBL] [Abstract][Full Text] [Related]
13. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Müllner-Eidenböck A; Moser E; Klebermass N; Amon M; Walter MC; Lochmüller H; Gooding R; Kalaydjieva L
Ophthalmology; 2004 Jul; 111(7):1415-23. PubMed ID: 15234148
[TBL] [Abstract][Full Text] [Related]
14. The RNA Pol II CTD phosphatase Fcp1 is essential for normal development in Drosophila melanogaster.
Tombácz I; Schauer T; Juhász I; Komonyi O; Boros I
Gene; 2009 Oct; 446(2):58-67. PubMed ID: 19632310
[TBL] [Abstract][Full Text] [Related]
15. [Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].
Herczegfalvi A; Pikó H; Karcagi V
Ideggyogy Sz; 2008 Nov; 61(11-12):426-30. PubMed ID: 19070320
[TBL] [Abstract][Full Text] [Related]
16. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Claramunt R; Sevilla T; Lupo V; Cuesta A; Millán JM; Vílchez JJ; Palau F; Espinós C
Clin Genet; 2007 Apr; 71(4):343-9. PubMed ID: 17470135
[TBL] [Abstract][Full Text] [Related]
17. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ
Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306
[TBL] [Abstract][Full Text] [Related]
18. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
[TBL] [Abstract][Full Text] [Related]
19. Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.
Wang CY; Huang YQ; Shi JD; Marron MP; Ruan QG; Hawkins-Lee B; Ochoa B; She JX
Am J Med Genet; 1999 Jun; 84(5):454-9. PubMed ID: 10360399
[TBL] [Abstract][Full Text] [Related]
20. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M
Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]