-
1
-
-
0033603146
-
Health care concerns and guidelines for adults with Down syndrome
-
Van Allen MI, Fung J, Jurenka SB (1999) Health care concerns and guidelines for adults with Down syndrome. Am J Med Genet 89:100-110
-
(1999)
Am J Med Genet
, vol.89
, pp. 100-110
-
-
Van Allen, M.I.1
Fung, J.2
Jurenka, S.B.3
-
2
-
-
0000867912
-
Marfan's syndrome with unusual blood vessel manifestations
-
Austin MG, Schaefer RF (1957) Marfan's syndrome with unusual blood vessel manifestations. Arch Pathol 64:204-209
-
(1957)
Arch Pathol
, vol.64
, pp. 204-209
-
-
Austin, M.G.1
Schaefer, R.F.2
-
3
-
-
0028953161
-
Clinical evaluation of a Mycobacterium tuberculosis PCR assay
-
Beige J, Lokies J, Schaberg T, Finckh U, Fischer M, Mauch H, Lode H et al (1995) Clinical evaluation of a Mycobacterium tuberculosis PCR assay. J Clin Microbiol 33:90-95
-
(1995)
J Clin Microbiol
, vol.33
, pp. 90-95
-
-
Beige, J.1
Lokies, J.2
Schaberg, T.3
Finckh, U.4
Fischer, M.5
Mauch, H.6
Lode, H.7
-
4
-
-
0023786187
-
Keratoconus
-
Bron AJ (1995) Keratoconus. Cornea 7:163-169
-
(1988)
Cornea
, vol.7
, pp. 163-169
-
-
Bron, A.J.1
-
5
-
-
85047699679
-
Hereditary nephritis (Alport's syndrome) - Clinical profile and inheritance in 28 kindreds
-
Chugh KS, Sakhuja V, Agarwal A, Jha V, Joshi K, Datta BN, Gupta A, et al (1993) Hereditary nephritis (Alport's syndrome) - Clinical profile and inheritance in 28 kindreds. Nephrol Dial Transplant 8:690-695
-
(1993)
Nephrol Dial Transplant
, vol.8
, pp. 690-695
-
-
Chugh, K.S.1
Sakhuja, V.2
Agarwal, A.3
Jha, V.4
Joshi, K.5
Datta, B.N.6
Gupta, A.7
-
6
-
-
0030006449
-
Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3
-
Comeglio P, Saitta B, Pepe G, Chu ML (1996) Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3. Hum Hered 46:239-240
-
(1996)
Hum Hered
, vol.46
, pp. 239-240
-
-
Comeglio, P.1
Saitta, B.2
Pepe, G.3
Chu, M.L.4
-
7
-
-
0030826275
-
Genome scanning for segments shared identical by descent among distant relatives in isolated populations
-
Durham LK, Feingold E (1997) Genome scanning for segments shared identical by descent among distant relatives in isolated populations. Am J Hum Genet 61:830-842
-
(1997)
Am J Hum Genet
, vol.61
, pp. 830-842
-
-
Durham, L.K.1
Feingold, E.2
-
8
-
-
0028110401
-
Lysosomal enzyme activities in conjunctival tissues of patients with keratoconus
-
Fukuchi T, Yue BY, Sugar J, Lam S (1994) Lysosomal enzyme activities in conjunctival tissues of patients with keratoconus. Arch Ophthalmol 112:1368-1374
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 1368-1374
-
-
Fukuchi, T.1
Yue, B.Y.2
Sugar, J.3
Lam, S.4
-
9
-
-
0027942323
-
Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
-
Houven RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB (1994) Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 8:380-386
-
(1994)
Nat Genet
, vol.8
, pp. 380-386
-
-
Houwen, R.H.1
Baharloo, S.2
Blankenship, K.3
Raeymaekers, P.4
Juyn, J.5
Sandkuijl, L.A.6
Freimer, N.B.7
-
10
-
-
0022509824
-
Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease
-
Ihalainen A (1986) Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. Acta Opthalmol Suppl 178:1-64
-
(1986)
Acta Opthalmol Suppl
, vol.178
, pp. 1-64
-
-
Ihalainen, A.1
-
11
-
-
0028325414
-
Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio
-
Kenney MC, Chwa M, Opbroek AJ, Brown DJ (1994) Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio. Cornea 13:114-124
-
(1994)
Cornea
, vol.13
, pp. 114-124
-
-
Kenney, M.C.1
Chwa, M.2
Opbroek, A.J.3
Brown, D.J.4
-
12
-
-
0030994698
-
Abnormalities of the extracellular matrix in keratoconus corneas
-
Kenney MC, Nesburn AB, Burgeson RE, Butkowski RJ, Ljubimov AV (1997) Abnormalities of the extracellular matrix in keratoconus corneas. Cornea 16:345-351
-
(1997)
Cornea
, vol.16
, pp. 345-351
-
-
Kenney, M.C.1
Nesburn, A.B.2
Burgeson, R.E.3
Butkowski, R.J.4
Ljubimov, A.V.5
-
13
-
-
0022577146
-
A 48-year clinical and epidemiologic study of keratoconus
-
Kennedy RH, Bourne WM, Dyer JA (1986) A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 101:267-273
-
(1986)
Am J Ophthalmol
, vol.101
, pp. 267-273
-
-
Kennedy, R.H.1
Bourne, W.M.2
Dyer, J.A.3
-
14
-
-
0021343891
-
Keratoconus and related noninflammatory corneal thinning disorders
-
Krachmer JH, Feder RS, Belin MW (1984) Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol 28:293-322
-
(1984)
Surv Ophthalmol
, vol.28
, pp. 293-322
-
-
Krachmer, J.H.1
Feder, R.S.2
Belin, M.W.3
-
15
-
-
0017663296
-
Ehlers-Danlos syndrome associated with keratoconus. A case report
-
Kuming BS, Joffe L (1977) Ehlers-Danlos syndrome associated with keratoconus. A case report. S Afr Med J 52:403-405
-
(1977)
S Afr Med J
, vol.52
, pp. 403-405
-
-
Kuming, B.S.1
Joffe, L.2
-
17
-
-
0030467174
-
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
-
Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M (1996) A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 335:1941-1949
-
(1996)
N Engl J Med
, vol.335
, pp. 1941-1949
-
-
Newport, M.J.1
Huxley, C.M.2
Huston, S.3
Hawrylowicz, C.M.4
Oostra, B.A.5
Williamson, R.6
Levin, M.7
-
18
-
-
0028949919
-
Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
-
Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088-1095
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
Terwilliger, J.3
Koskinen, T.4
Weissenbach, J.5
Peltonen, L.6
-
19
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
Peltonen L, Jalanko A, Varilo T (1999) Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
22
-
-
0016788205
-
Keratoconus and the Ehlers-Danlos syndrome: A new aspect of keratoconus
-
Robertson I (1975) Keratoconus and the Ehlers-Danlos syndrome: A new aspect of keratoconus. Med J Aust 1:571-573
-
(1975)
Med J Aust
, vol.1
, pp. 571-573
-
-
Robertson, I.1
-
23
-
-
0030460305
-
The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST)
-
Sack J, Healey DL, De Graaf AP, Wilkinson RM, Wilkinson CH, Barbour JM, Coote MA, McCartney PJ, Rait JL, Cooper RL, Ring MA, Mackey DA (1996) The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST). Ophthalmic Genet 17:209-214
-
(1996)
Ophthalmic Genet
, vol.17
, pp. 209-214
-
-
Sack, J.1
Healey, D.L.2
De Graaf, A.P.3
Wilkinson, R.M.4
Wilkinson, C.H.5
Barbour, J.M.6
Coote, M.A.7
McCartney, P.J.8
Rait, J.L.9
Cooper, R.L.10
Ring, M.A.11
Mackey, D.A.12
-
25
-
-
0021792234
-
The ocular features of Down's syndrome
-
Shapiro MB, France TD (1985) The ocular features of Down's syndrome. Am J Ophthalmol 99:659-663
-
(1985)
Am J Ophthalmol
, vol.99
, pp. 659-663
-
-
Shapiro, M.B.1
France, T.D.2
-
26
-
-
0028828135
-
Perspectives of identity by descent (IBD) mapping in founder populations
-
Te Meerman GJ, Van Der Meulen MA, Sandkuijl LA (1995) Perspectives of identity by descent (IBD) mapping in founder populations. Clin Exp Allergy 25 (Suppl 2):97-102
-
(1995)
Clin Exp Allergy
, vol.25
, Issue.SUPPL. 2
, pp. 97-102
-
-
Te Meerman, G.J.1
Van Der Meulen, M.A.2
Sandkuijl, L.A.3
-
27
-
-
0034726692
-
Genetic epidemiological study of keratoconus: Evidence for major gene determination
-
Wang Y, Rabinowiz YS, Rotter JL, Yang H (2000) Genetic epidemiological study of keratoconus: Evidence for major gene determination. Am J Med Genet 93:403-409
-
(2000)
Am J Med Genet
, vol.93
, pp. 403-409
-
-
Wang, Y.1
Rabinowiz, Y.S.2
Rotter, J.L.3
Yang, H.4
-
28
-
-
0031044954
-
Chatepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas
-
Whitelock RB, Fukuchi T, Zhou L, Twining SS, Sugar J, Feder RS, Yue BY (1997) Chatepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas. Invest Ophthalmol Vis Sci 38:529-534
-
(1997)
Invest Ophthalmol Vis Sci
, vol.38
, pp. 529-534
-
-
Whitelock, R.B.1
Fukuchi, T.2
Zhou, L.3
Twining, S.S.4
Sugar, J.5
Feder, R.S.6
Yue, B.Y.7
-
29
-
-
0021955317
-
RNA metabolism in cultures of corneal stromal cells from patients with keratoconus
-
Yue BY, Sugar J, Benveniste K (1985) RNA metabolism in cultures of corneal stromal cells from patients with keratoconus. Proc Soc Exp Biol Med 178:126-132
-
(1985)
Proc Soc Exp Biol Med
, vol.178
, pp. 126-132
-
-
Yue, B.Y.1
Sugar, J.2
Benveniste, K.3
-
30
-
-
0031806680
-
Expression of degradative enzymes and protease inhibitors in corneas with keratoconus
-
Zhou L, Sawaguchi S, Twining SS, Sugar J, Feder RS, Yue BY (1998) Expression of degradative enzymes and protease inhibitors in corneas with keratoconus. Invest Ophthalmol Vis Sci 39:1117-1124
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 1117-1124
-
-
Zhou, L.1
Sawaguchi, S.2
Twining, S.S.3
Sugar, J.4
Feder, R.S.5
Yue, B.Y.6
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