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Items: 1 to 20 of 218

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.

2.

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
3.

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.

4.

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
5.

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
6.

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
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
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.

9.

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
10.

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.

11.

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
12.

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.

13.

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
14.

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.

15.

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
16.

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. Epub 2008 Oct 24.

17.

[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].

Lin Y, Liu NN, Lei CT, Fan YC, Liu XQ, Yang Y, Wang JF, Liu B, Yang ZL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):59-62. Chinese.

PMID:
18247306
18.

[The genetic component of congenital cataract].

Guízar Vázquez J, Navarro Hernández CR, Argaiz Gamas J, González MJ.

Bol Med Hosp Infant Mex. 1980 May-Jun;37(3):539-47. Spanish.

PMID:
7397030
19.

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
20.

[Genetic examination in cases of congenital cataract].

Lorenz B.

Ophthalmologe. 2007 Jul;104(7):559-65. Review. German.

PMID:
17571268

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