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Results: 1 to 20 of 241

1.

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

Ugur SA, Tolun A.

Eur J Hum Genet. 2008 Feb;16(2):261-4. Epub 2007 Oct 10.

PMID:
17928815
[PubMed - indexed for MEDLINE]
Free Article
2.

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C.

Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3.

PMID:
16951682
[PubMed - indexed for MEDLINE]
3.

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

Traverso M, Yuregir OO, Mimouni-Bloch A, Rossi A, Aslan H, Gazzerro E, Baldassari S, Fruscione F, Minetti C, Zara F, Biancheri R.

Eur J Paediatr Neurol. 2013 Jan;17(1):108-11. doi: 10.1016/j.ejpn.2012.06.004. Epub 2012 Jun 30.

PMID:
22749724
[PubMed - indexed for MEDLINE]
4.

Phenotypic characterization of hypomyelination and congenital cataract.

Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C.

Ann Neurol. 2007 Aug;62(2):121-7.

PMID:
17683097
[PubMed - indexed for MEDLINE]
5.

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R.

Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30.

PMID:
23998934
[PubMed - indexed for MEDLINE]
6.

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P.

AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. Epub 2007 Nov 1.

PMID:
17974614
[PubMed - indexed for MEDLINE]
Free Article
7.

Hypomyelination and congenital cataract: broadening the clinical phenotype.

Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI.

Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Review.

PMID:
21911699
[PubMed - indexed for MEDLINE]
8.

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF.

Mol Vis. 2008 Jun 16;14:1157-70.

PMID:
18587492
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ.

Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4.

PMID:
19414485
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.

Cui X, Gao L, Jin Y, Zhang Y, Bai J, Feng G, Gao W, Liu P, He L, Fu S.

Mol Vis. 2007 Oct 24;13:2023-9.

PMID:
17982427
[PubMed - indexed for MEDLINE]
Free Article
11.

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.

Baránková L, Sisková D, Hühne K, Vyhnálková E, Sakmaryová I, Bojar M, Rautenstrauss B, Seeman P.

Eur J Neurol. 2008 Jun;15(6):548-51. doi: 10.1111/j.1468-1331.2008.02104.x. Epub 2008 Apr 8.

PMID:
18410371
[PubMed - indexed for MEDLINE]
12.

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.

Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Löster J, Graw J.

J Med Genet. 2002 May;39(5):352-8. No abstract available.

PMID:
12011157
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.

Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.

PMID:
17704776
[PubMed - indexed for MEDLINE]
14.

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yao K, Jin C, Zhu N, Wang W, Wu R, Jiang J, Shentu X.

Mol Vis. 2008 Jul 9;14:1272-6.

PMID:
18618005
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Li FF, Zhu SQ, Wang SZ, Gao C, Huang SZ, Zhang M, Ma X.

Mol Vis. 2008 Apr 24;14:750-5.

PMID:
18449377
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Juvenile cataract with autosomal recessive inheritance. A study from the Aland Islands, Finland.

Forsius H, Arentz-Grastvedt B, Eriksson AW.

Acta Ophthalmol (Copenh). 1992 Feb;70(1):26-32.

PMID:
1557971
[PubMed - indexed for MEDLINE]
17.

[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
[PubMed - indexed for MEDLINE]
18.

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X.

Mol Vis. 2008 Apr 18;14:727-31.

PMID:
18432316
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H.

Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19.

PMID:
18571143
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Congenital cataract etiology.

El Fkih L, Hmaied W, El Hif S, Moalla S, Marakchi S, Tabib N, Azzouz H.

Tunis Med. 2007 Dec;85(12):1025-9.

PMID:
19170381
[PubMed - indexed for MEDLINE]

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