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Items: 1 to 20 of 89

1.

Congenital cataracts-facial dysmorphism-neuropathy.

Kalaydjieva L.

Orphanet J Rare Dis. 2006 Aug 29;1:32. Review.

2.

[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report].

Siska E, Neuwirth M, Rebecca G, Molnár MJ.

Ideggyogy Sz. 2007 May 30;60(5-6):257-62. Hungarian.

PMID:
17578274
3.

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. Epub 2003 Sep 21.

PMID:
14517542
4.

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 22;58(2):231-6.

PMID:
11805249
5.

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. doi: 10.1016/j.pediatrneurol.2011.05.008.

PMID:
21824574
6.

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.

PMID:
16194727
7.

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Lassuthova P, Sišková D, Haberlová J, Sakmaryová I, Filouš A, Seeman P.

Orphanet J Rare Dis. 2014 Apr 1;9:46. doi: 10.1186/1750-1172-9-46.

8.

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.

9.

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H.

J Med Genet. 2002 Nov;39(11):838-43. No abstract available.

10.

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.

PMID:
15234148
11.

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

Cordelli DM, Garone C, Marchiani V, Lodi R, Tonon C, Ferrari S, Seri M, Franzoni E.

Neuromuscul Disord. 2010 May;20(5):343-5. doi: 10.1016/j.nmd.2010.03.003. Epub 2010 Mar 28.

PMID:
20350809
12.

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.

Mastroyianni SD, Garoufi A, Voudris K, Skardoutsou A, Stefanidis CJ, Katsarou E, Gooding R, Kalaydjieva L.

Eur J Pediatr. 2007 Jul;166(7):747-9. Epub 2006 Dec 30.

PMID:
17195938
13.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy.

Kalaydjieva L, Chamova T.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2010 Mar 02 [updated 2014 Oct 2].

14.

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.

Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK.

Ann Neurol. 1999 Jun;45(6):742-50.

PMID:
10360766
15.

Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.

Tournev I, King RH, Workman J, Nourallah M, Muddle JR, Kalaydjieva L, Romanski K, Thomas PK.

Acta Neuropathol. 1999 Aug;98(2):165-70.

PMID:
10442556
16.

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, Koenig M.

Eur J Hum Genet. 2003 Oct;11(10):770-8.

17.

[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 30;61(11-12):426-30. Hungarian.

PMID:
19070320
18.

Long-term follow-up in patients with CCFDN syndrome.

Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W.

Neurology. 2014 Oct 7;83(15):1337-44. doi: 10.1212/WNL.0000000000000874. Epub 2014 Sep 3.

PMID:
25186864
19.

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E.

Am J Med Genet A. 2005 Mar 1;133A(2):197-201. Review.

PMID:
15633176
20.

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.

Chamova T, Zlatareva D, Raycheva M, Bichev S, Kalaydjieva L, Tournev I.

Behav Neurol. 2015;2015:639539. doi: 10.1155/2015/639539. Epub 2015 Apr 28.

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