-
1
-
-
33846428903
-
Congenital hereditary corneal dystrophy
-
Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthlmol 1960;50:1114-24.
-
(1960)
Am J Ophthlmol
, vol.50
, pp. 1114-1124
-
-
Maumenee, A.E.1
-
2
-
-
0023128462
-
Congenital hereditary corneal oedema of Maumenee: Its clinical features, management and pathology
-
Kirkness CM, McCartney A, Rice NSC, et al. Congenital hereditary corneal oedema of Maumenee: its clinical features, management and pathology. Br J Ophthalmol 1987;71:130-44.
-
(1987)
Br J Ophthalmol
, vol.71
, pp. 130-144
-
-
Kirkness, C.M.1
McCartney, A.2
Rice, N.S.C.3
-
3
-
-
0028895206
-
Linkage of congenital hereditary endothclial dystrophy to chromosome 20
-
Toma NMG, Ebenezer ND, Inglehearn CF, at al. Linkage of congenital hereditary endothclial dystrophy to chromosome 20. Hum Mol Genet 1995;4:2395-8.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2395-2398
-
-
Toma, N.M.G.1
Ebenezer, N.D.2
Inglehearn, C.F.3
-
4
-
-
0015671341
-
Further studies of congenital hereditary endothelial dystrophy of the cornea
-
Kenyon KR, Maumenee AE. Further studies of congenital hereditary endothelial dystrophy of the cornea. Am J Ophthalmol 1973;76:419-39.
-
(1973)
Am J Ophthalmol
, vol.76
, pp. 419-439
-
-
Kenyon, K.R.1
Maumenee, A.E.2
-
5
-
-
0027167118
-
Genetic influences on differentiation, mitosis and dystrophies of the corneal endothelium
-
Sieck EA, Joyce NC. Genetic influences on differentiation, mitosis and dystrophies of the corneal endothelium. Int Ophthalmol Clin 1993;33:37-48.
-
(1993)
Int Ophthalmol Clin
, vol.33
, pp. 37-48
-
-
Sieck, E.A.1
Joyce, N.C.2
-
6
-
-
0020283092
-
Similarities between posterior polymorphous and congenital hereditary endothelial dystrophies: A study of 14 buttons of 11 cases
-
Chan CC, Green WR, Barraquer J, et al. Similarities between posterior polymorphous and congenital hereditary endothelial dystrophies: a study of 14 buttons of 11 cases. Cornea 1982;1:155-72.
-
(1982)
Cornea
, vol.1
, pp. 155-172
-
-
Chan, C.C.1
Green, W.R.2
Barraquer, J.3
-
8
-
-
0023857465
-
Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea
-
McCartney ACE, Kirkness CM. Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea. Eye 1988;2:63-70.
-
(1988)
Eye
, vol.2
, pp. 63-70
-
-
McCartney, A.C.E.1
Kirkness, C.M.2
-
9
-
-
0017692072
-
The clinical spectrum of posterior polymorphous dystrophy
-
Cibis GW, Krachmer JA, Phelps CD, et al. The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol 1977;95:1529-37.
-
(1977)
Arch Ophthalmol
, vol.95
, pp. 1529-1537
-
-
Cibis, G.W.1
Krachmer, J.A.2
Phelps, C.D.3
-
10
-
-
0028920471
-
Linkage of posterior polymorphous corneal dystrophy to 20q11
-
Héon E, Mathers WD, Alward WLM, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Gen 1995;4:485-8.
-
(1995)
Hum Mol Gen
, vol.4
, pp. 485-488
-
-
Héon, E.1
Mathers, W.D.2
Alward, W.L.M.3
-
12
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-70.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
13
-
-
0028000502
-
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
-
Sheffield VC, Carmi R, Kwitek-Black A, et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994;3:1331-5.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1331-1335
-
-
Sheffield, V.C.1
Carmi, R.2
Kwitek-Black, A.3
-
14
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
Hillaire D, Leclerc A, Fauré S, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3:1657-61.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1657-1661
-
-
Hillaire, D.1
Leclerc, A.2
Fauré, S.3
-
15
-
-
0027514838
-
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
-
Ben Hamida C, Doerflinger K, Belal S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993;5:195-200.
-
(1993)
Nat Genet
, vol.5
, pp. 195-200
-
-
Ben Hamida, C.1
Doerflinger, K.2
Belal, S.3
-
16
-
-
0030015647
-
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with foally folded myelm sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
-
Bolino A, Brancolini V, Bono F, et al. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with foally folded myelm sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 1996;5:1051-4.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1051-1054
-
-
Bolino, A.1
Brancolini, V.2
Bono, F.3
-
17
-
-
0028851065
-
Use of DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
-
Carmi R, Rokhlina T, Kwitek-Black AE, et al. Use of DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995;4:9-13.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 9-13
-
-
Carmi, R.1
Rokhlina, T.2
Kwitek-Black, A.E.3
-
18
-
-
0028249690
-
A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
Guilford P, Ben Arab S, Blanchard S, et al. A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994;6:24-8.
-
(1994)
Nat Genet
, vol.6
, pp. 24-28
-
-
Guilford, P.1
Ben Arab, S.2
Blanchard, S.3
-
19
-
-
0028079995
-
Homozygosity mapping of the Werner syndrome locus (WRN)
-
Nakura J, Wijsman EM, Miki T, et al. Homozygosity mapping of the Werner syndrome locus (WRN). Genomics 1994;23:600-8.
-
(1994)
Genomics
, vol.23
, pp. 600-608
-
-
Nakura, J.1
Wijsman, E.M.2
Miki, T.3
-
20
-
-
0028355717
-
Bloom syndrome: An analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1
-
German J, Roe AM, Leppert MF, et al. Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Natl Acad Sci USA 1994;91:6669-73.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 6669-6673
-
-
German, J.1
Roe, A.M.2
Leppert, M.F.3
-
21
-
-
0028069130
-
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
-
Puffenberger EG, Kauffman ER, Bolk S, et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 1994;326:1217-25.
-
(1994)
Hum Mol Genet
, vol.326
, pp. 1217-1225
-
-
Puffenberger, E.G.1
Kauffman, E.R.2
Bolk, S.3
-
23
-
-
0026653798
-
Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16
-
Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 1992;326:1509-13.
-
(1992)
N Engl J Med
, vol.326
, pp. 1509-1513
-
-
Pras, E.1
Aksentijevich, I.2
Gruberg, L.3
-
24
-
-
0018813281
-
Rapid DNA isolations for enzymatic and hybridization analysis
-
Davis RW, Thomas M, Cameron J, et al. Rapid DNA isolations for enzymatic and hybridization analysis. Methods Enzymol 1965;65:404-11.
-
(1965)
Methods Enzymol
, vol.65
, pp. 404-411
-
-
Davis, R.W.1
Thomas, M.2
Cameron, J.3
-
25
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF, A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
27
-
-
0017807244
-
Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy
-
Judisch GF, Maumenee IH. Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. Am J Ophthalmol 1978;85:606-12.
-
(1978)
Am J Ophthalmol
, vol.85
, pp. 606-612
-
-
Judisch, G.F.1
Maumenee, I.H.2
-
28
-
-
0016724763
-
Endothelial alterations in congenital corneal dystrophies
-
Rodrigues MM, Waring GO, Liabson PR, et al. Endothelial alterations in congenital corneal dystrophies. Am J Ophthalmol 1975;80:678-89.
-
(1975)
Am J Ophthalmol
, vol.80
, pp. 678-689
-
-
Rodrigues, M.M.1
Waring, G.O.2
Liabson, P.R.3
-
29
-
-
0014799372
-
Histology of congenital hereditary corneal dystrophy
-
Antine B. Histology of congenital hereditary corneal dystrophy. Am J Opthalmol 1970;69:964-9.
-
(1970)
Am J Opthalmol
, vol.69
, pp. 964-969
-
-
Antine, B.1
-
30
-
-
0014578568
-
Congenital endothelial corneal dystrophy. Clinical, pathological and genetic study
-
Pearce WG, Tripathi RC, Morgan G. Congenital endothelial corneal dystrophy. Clinical, pathological and genetic study. Br J Ophthalmol 1969;53:577-91.
-
(1969)
Br J Ophthalmol
, vol.53
, pp. 577-591
-
-
Pearce, W.G.1
Tripathi, R.C.2
Morgan, G.3
-
31
-
-
0014337624
-
The histological and ultrastructural pathology of congenital hereditary corneal dystrophy: A case report
-
Kenyon KR, Maumenee AE. The histological and ultrastructural pathology of congenital hereditary corneal dystrophy: a case report. Invest Ophthalmol 1968;7:475-500.
-
(1968)
Invest Ophthalmol
, vol.7
, pp. 475-500
-
-
Kenyon, K.R.1
Maumenee, A.E.2
-
32
-
-
0013953622
-
Corneal opacitites in infancy and childhood
-
Feigin RD, Caplan DB. Corneal opacitites in infancy and childhood. J Pediatr 1966;69:383-92.
-
(1966)
J Pediatr
, vol.69
, pp. 383-392
-
-
Feigin, R.D.1
Caplan, D.B.2
-
33
-
-
0013815166
-
Congenital hereditary corneal dystrophy
-
Keates RH, Cvintal T. Congenital hereditary corneal dystrophy. Am J Ophthalmol 1965;60:892-4.
-
(1965)
Am J Ophthalmol
, vol.60
, pp. 892-894
-
-
Keates, R.H.1
Cvintal, T.2
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