-
2
-
-
0030012892
-
Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei
-
PMID: 8670754
-
Al-Ghoul KJ, Costello MJ. Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei. Curr Eye Res 1996; 15:533-542. [PMID: 8670754]
-
(1996)
Curr Eye Res
, vol.15
, pp. 533-542
-
-
Al-Ghoul, K.J.1
Costello, M.J.2
-
3
-
-
0037862721
-
Molecular biology and inherited disorders of the eye lens
-
In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW et al., editors, New York: McGraw Hill
-
Hejtmancik JF, Kaiser-Kupfer MI, Piatigorsky J. Molecular biology and inherited disorders of the eye lens. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW et al., editors. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw Hill; 2001. p. 6033-6062.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 6033-6062
-
-
Hejtmancik, J.F.1
Kaiser-Kupfer, M.I.2
Piatigorsky, J.3
-
4
-
-
79955577839
-
Congenital cataracts associated with multisystem diseases
-
2nd ed. New York: Tailor and Francis Group
-
Merin S. Congenital cataracts associated with multisystem diseases. In: Inherited eye diseases diagnosis and management, 2nd ed. New York: Tailor and Francis Group; 2005. p. 139-166.
-
(2005)
Inherited Eye Diseases Diagnosis and Management
, pp. 139-166
-
-
Merin, S.1
-
5
-
-
9644275422
-
A nationwide Danish study of 1027 cases of congenital/ infantile cataracts: Etiological and clinical classifications
-
PMID: 15582089
-
Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. A nationwide Danish study of 1027 cases of congenital/ infantile cataracts: etiological and clinical classifications. Ophthalmology 2004; 111:2292-2298. [PMID: 15582089]
-
(2004)
Ophthalmology
, vol.111
, pp. 2292-2298
-
-
Haargaard, B.1
Wohlfahrt, J.2
Fledelius, H.C.3
Rosenberg, T.4
Melbye, M.5
-
6
-
-
0004081969
-
-
2nd ed. Montgomery Scientific Publications Durham, NC
-
Judd WJ. Methods in Immunohematolog. 2nd ed. Montgomery Scientific Publications Durham, NC; 1994. p. 224-226.
-
(1994)
Methods In Immunohematolog
, pp. 224-226
-
-
Judd, W.J.1
-
7
-
-
0018839260
-
The measurement and interpretation of serum ferritin
-
PMID: 7004332
-
Forman DT, Parker SL. The measurement and interpretation of serum ferritin. Ann Clin Lab Sci 1980; 10:345-350. [PMID: 7004332]
-
(1980)
Ann Clin Lab Sci
, vol.10
, pp. 345-350
-
-
Forman, D.T.1
Parker, S.L.2
-
8
-
-
0028788201
-
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
-
PMID: 7492760
-
Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995; 86:4050-4053. [PMID: 7492760]
-
(1995)
Blood
, vol.86
, pp. 4050-4053
-
-
Girelli, D.1
Corrocher, R.2
Bisceglia, L.3
Olivieri, O.4
de Franceschi, L.5
Zelante, L.6
Gasparini, P.7
-
9
-
-
0035725363
-
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome
-
PMID: 11703332
-
Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, Ramenghi U, Peters J, Levi S, Camaschella C, Corrocher R. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. Br J Haematol 2001; 115:334-340. [PMID: 11703332]
-
(2001)
Br J Haematol
, vol.115
, pp. 334-340
-
-
Girelli, D.1
Bozzini, C.2
Zecchina, G.3
Tinazzi, E.4
Bosio, S.5
Piperno, A.6
Ramenghi, U.7
Peters, J.8
Levi, S.9
Camaschella, C.10
Corrocher, R.11
-
10
-
-
0034210637
-
Translational pathophysiology: A novel molecular mechanism of human disease
-
PMID: 10828006
-
Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 2000; 95:3280-3288. [PMID: 10828006]
-
(2000)
Blood
, vol.95
, pp. 3280-3288
-
-
Cazzola, M.1
Skoda, R.C.2
-
11
-
-
0032995924
-
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia cataract syndrome
-
PMID: 10366790
-
Cicilano M, Zecchina G, Roetto A, Bosio S, Infelise V, Stefani S, Mazza U, Camaschella C. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia cataract syndrome. Haematologica 1999; 84:489-492. [PMID: 10366790]
-
(1999)
Haematologica
, vol.84
, pp. 489-492
-
-
Cicilano, M.1
Zecchina, G.2
Roetto, A.3
Bosio, S.4
Infelise, V.5
Stefani, S.6
Mazza, U.7
Camaschella, C.8
-
12
-
-
33344478786
-
Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin
-
PMID: 16518306
-
Vanita V, Hejtmancik JF, Hennies HC, Guleria K, Nürnberg P, Singh D, Sperling K, Singh JR. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis 2006; 12:93-99. [PMID: 16518306]
-
(2006)
Mol Vis
, vol.12
, pp. 93-99
-
-
Vanita, V.1
Hejtmancik, J.F.2
Hennies, H.C.3
Guleria, K.4
Nürnberg, P.5
Singh, D.6
Sperling, K.7
Singh, J.R.8
-
13
-
-
0031975341
-
A point mutation in the bulge of the the L-ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome
-
PMID: 9414300
-
Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the the L-ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood 1998; 91:319-323. [PMID: 9414300]
-
(1998)
Blood
, vol.91
, pp. 319-323
-
-
Martin, M.E.1
Fargion, S.2
Brissot, P.3
Pellat, B.4
Beaumont, C.5
-
14
-
-
0033543569
-
Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome
-
PMID: 10473603
-
Allerson CR, Cazzola M, Rouault TA. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. J Biol Chem 1999; 274:26439-26447. [PMID: 10473603]
-
(1999)
J Biol Chem
, vol.274
, pp. 26439-26447
-
-
Allerson, C.R.1
Cazzola, M.2
Rouault, T.A.3
-
15
-
-
0025317127
-
Structural requirements of ironresponsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA posttranscriptional regulation
-
PMID: 2336358
-
Leibold EA, Laudano A, Yu Y. Structural requirements of ironresponsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA posttranscriptional regulation. Nucleic Acids Res 1990; 18:1819-1824. [PMID: 2336358]
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 1819-1824
-
-
Leibold, E.A.1
Laudano, A.2
Yu, Y.3
-
16
-
-
0027439334
-
The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure
-
PMID: 8233801
-
Jaffrey SR, Haile DJ, Klausner RD, Harford JB. The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. Nucleic Acids Res 1993; 21:4627-4631. [PMID: 8233801]
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 4627-4631
-
-
Jaffrey, S.R.1
Haile, D.J.2
Klausner, R.D.3
Harford, J.B.4
-
17
-
-
0036050644
-
Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin
-
PMID: 12200611
-
Campagnoli MF, Pimazzoni R, Bosio S, Zecchina G, DeGobbi M, Bosso P, Oldani B, Ramenghi U. Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin. Eur J Pediatr 2002; 161:499-502. [PMID: 12200611]
-
(2002)
Eur J Pediatr
, vol.161
, pp. 499-502
-
-
Campagnoli, M.F.1
Pimazzoni, R.2
Bosio, S.3
Zecchina, G.4
Degobbi, M.5
Bosso, P.6
Oldani, B.7
Ramenghi, U.8
-
18
-
-
3042580045
-
A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2):Association with autosomal recessive congenital cataracts
-
PMID: 15161861
-
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2):association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004; 45:1940-1945. [PMID: 15161861]
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 1940-1945
-
-
Pras, E.1
Raz, J.2
Yahalom, V.3
Frydman, M.4
Garzozi, H.J.5
Pras, E.6
Hejtmancik, J.F.7
-
19
-
-
41149175217
-
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria
-
PMID: 18304496
-
Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet 2008; 82:772-779. [PMID: 18304496]
-
(2008)
Am J Hum Genet
, vol.82
, pp. 772-779
-
-
Kloeckener-Gruissem, B.1
Vandekerckhove, K.2
Nürnberg, G.3
Neidhardt, J.4
Zeitz, C.5
Nürnberg, P.6
Schipper, I.7
Berger, W.8
-
20
-
-
77952307766
-
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
-
PMID: 20405025
-
Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Mol Vis 2010; 16:682-688. [PMID: 20405025]
-
(2010)
Mol Vis
, vol.16
, pp. 682-688
-
-
Yasmeen, A.1
Riazuddin, S.A.2
Kaul, H.3
Mohsin, S.4
Khan, M.5
Qazi, Z.A.6
Nasir, I.A.7
Zafar, A.U.8
Khan, S.N.9
Husnain, T.10
Akram, J.11
Hejtmancik, J.F.12
Riazuddin, S.13
|