-
1
-
-
76149117233
-
Refractive errors and strabismus in children with Laurence-Moon-Biedl syndrome
-
Akinci A, Oner O, Aktas Z, Cetinkaya E, Aycan Z. 2010. Refractive errors and strabismus in children with Laurence-Moon-Biedl syndrome. J Pediatr Ophthalmol Strabismus 47:26-28.
-
(2010)
J Pediatr Ophthalmol Strabismus
, vol.47
, pp. 26-28
-
-
Akinci, A.1
Oner, O.2
Aktas, Z.3
Cetinkaya, E.4
Aycan, Z.5
-
2
-
-
0942276980
-
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): Report on 23 patients and review of the literature
-
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. 2004. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): Report on 23 patients and review of the literature. Am J Med Genet Part A 124A:28-34.
-
(2004)
Am J Med Genet Part A
, vol.124 A
, pp. 28-34
-
-
Al-Hussain, H.1
Zeisberger, S.M.2
Huber, P.R.3
Giunta, C.4
Steinmann, B.5
-
4
-
-
27144531386
-
Germline mutations in HRAS proto-oncogene cause Costello syndrome
-
Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. 2005. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038-1040.
-
(2005)
Nat Genet
, vol.37
, pp. 1038-1040
-
-
Aoki, Y.1
Niihori, T.2
Kawame, H.3
Kurosawa, K.4
Ohashi, H.5
Tanaka, Y.6
Filocamo, M.7
Kato, K.8
Suzuki, Y.9
Kure, S.10
Matsubara, Y.11
-
5
-
-
0027204230
-
Noonan's syndrome with keratoconus and optic disc coloboma
-
Ascaso FJ, Del Buey MA, Huerva V, Latre B, Palomar A. 1993. Noonan's syndrome with keratoconus and optic disc coloboma. Europ J Ophthalmol 3:101-103.
-
(1993)
Europ J Ophthalmol
, vol.3
, pp. 101-103
-
-
Ascaso, F.J.1
Del Buey, M.A.2
Huerva, V.3
Latre, B.4
Palomar, A.5
-
6
-
-
0019506319
-
Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree
-
Bass HN, Sparkes RS, Crandall BF, Marcy SM. 1981. Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. J Pediat 98:591-593.
-
(1981)
J Pediat
, vol.98
, pp. 591-593
-
-
Bass, H.N.1
Sparkes, R.S.2
Crandall, B.F.3
Marcy, S.M.4
-
7
-
-
84856404137
-
Insulin growth factor promotes human corneal fibroblast network formation in vitro
-
Berthaut A, Mirshahi P, Benabbou N, Ducros E, Agra A, Therwath A, Legeais JM, Mirshahi M. 2011. Insulin growth factor promotes human corneal fibroblast network formation in vitro. Invest Ophthalmol Vis Sci 52:7647-7653.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 7647-7653
-
-
Berthaut, A.1
Mirshahi, P.2
Benabbou, N.3
Ducros, E.4
Agra, A.5
Therwath, A.6
Legeais, J.M.7
Mirshahi, M.8
-
8
-
-
79958826990
-
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
-
Burkitt Wright EM, Spencer HL, Daly SB, Manson FD, Zeef LA, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GC. 2011. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 88:767-777.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 767-777
-
-
Burkitt Wright, E.M.1
Spencer, H.L.2
Daly, S.B.3
Manson, F.D.4
Zeef, L.A.5
Urquhart, J.6
Zoppi, N.7
Bonshek, R.8
Tosounidis, I.9
Mohan, M.10
Madden, C.11
Dodds, A.12
Chandler, K.E.13
Banka, S.14
Au, L.15
Clayton-Smith, J.16
Khan, N.17
Biesecker, L.G.18
Wilson, M.19
Rohrbach, M.20
Colombi, M.21
Giunta, C.22
Black, G.C.23
more..
-
9
-
-
84866285805
-
Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies
-
Bykhovskaya Y, Li X, Epifantseva I, Haritunians T, Siscovick D, Aldave A, Szczotka-Flynn L, Iyengar SK, Taylor KD, Rotter JI, Rabinowitz YS. 2012. Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies. Invest Ophthalmol Vis Sci 28:4152-4157.
-
(2012)
Invest Ophthalmol Vis Sci
, vol.28
, pp. 4152-4157
-
-
Bykhovskaya, Y.1
Li, X.2
Epifantseva, I.3
Haritunians, T.4
Siscovick, D.5
Aldave, A.6
Szczotka-Flynn, L.7
Iyengar, S.K.8
Taylor, K.D.9
Rotter, J.I.10
Rabinowitz, Y.S.11
-
10
-
-
61649103114
-
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
-
Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. 2009. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature. Hum Mutat 30:334-341.
-
(2009)
Hum Mutat
, vol.30
, pp. 334-341
-
-
Callewaert, B.L.1
Loeys, B.L.2
Ficcadenti, A.3
Vermeer, S.4
Landgren, M.5
Kroes, H.Y.6
Yaron, Y.7
Pope, M.8
Foulds, N.9
Boute, O.10
Galán, F.11
Kingston, H.12
Van der Aa, N.13
Salcedo, I.14
Swinkels, M.E.15
Wallgren-Pettersson, C.16
Gabrielli, O.17
De Backer, J.18
Coucke, P.J.19
De Paepe, A.M.20
more..
-
11
-
-
0027483407
-
Corneal abnormalities in Ehlers-Danlos syndrome type VI
-
Cameron JA. 1993. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 12:54-59.
-
(1993)
Cornea
, vol.12
, pp. 54-59
-
-
Cameron, J.A.1
-
13
-
-
0030584390
-
Costello syndrome: Update on the original cases and commentary
-
Costello JM. 1996. Costello syndrome: Update on the original cases and commentary. Am J Med Genet 62:199-201.
-
(1996)
Am J Med Genet
, vol.62
, pp. 199-201
-
-
Costello, J.M.1
-
14
-
-
84858333271
-
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
-
Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, Rydzanicz M, Bejjani BA, Yue BY, Szaflik JP, Gajecka M. 2012. Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet 20:389-397.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 389-397
-
-
Czugala, M.1
Karolak, J.A.2
Nowak, D.M.3
Polakowski, P.4
Pitarque, J.5
Molinari, A.6
Rydzanicz, M.7
Bejjani, B.A.8
Yue, B.Y.9
Szaflik, J.P.10
Gajecka, M.11
-
15
-
-
0035722135
-
Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
-
Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK. 2001. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. Can J Ophthalmol 36:252-259.
-
(2001)
Can J Ophthalmol
, vol.36
, pp. 252-259
-
-
Damji, K.F.1
Sohocki, M.M.2
Khan, R.3
Gupta, S.K.4
Rahim, M.5
Loyer, M.6
Hussein, N.7
Karim, N.8
Ladak, S.S.9
Jamal, A.10
Bulman, D.11
Koenekoop, R.K.12
-
16
-
-
77953556702
-
Mutational screening of VSX1 in keratoconus patients from the European population
-
Dash DP, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes AE, Silvestri G, Jackson J, Frazer D, Héon E, Willoughby CE. 2010. Mutational screening of VSX1 in keratoconus patients from the European population. Eye (Lond.) 24:1085-1092.
-
(2010)
Eye (Lond.)
, vol.24
, pp. 1085-1092
-
-
Dash, D.P.1
George, S.2
O'Prey, D.3
Burns, D.4
Nabili, S.5
Donnelly, U.6
Hughes, A.E.7
Silvestri, G.8
Jackson, J.9
Frazer, D.10
Héon, E.11
Willoughby, C.E.12
-
17
-
-
83055170864
-
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus
-
De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L. 2011. Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis. 17:2482-2494.
-
(2011)
Mol Vis.
, vol.17
, pp. 2482-2494
-
-
De Bonis, P.1
Laborante, A.2
Pizzicoli, C.3
Stallone, R.4
Barbano, R.5
Longo, C.6
Mazzilli, E.7
Zelante, L.8
Bisceglia, L.9
-
19
-
-
0026059356
-
Augensymptome bei einer Familie mit Pseudo-Ullrich-Turner-syndrome
-
Foerster W, Lenz W, Busse H. 1991. Augensymptome bei einer Familie mit Pseudo-Ullrich-Turner-syndrome. Klin Mbl Augenheilkunde 199:362-366.
-
(1991)
Klin Mbl Augenheilkunde
, vol.199
, pp. 362-366
-
-
Foerster, W.1
Lenz, W.2
Busse, H.3
-
20
-
-
0034011492
-
Arterial tortuosity syndrome
-
Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D. 2000. Arterial tortuosity syndrome. Am J Med Genet 91:141-143.
-
(2000)
Am J Med Genet
, vol.91
, pp. 141-143
-
-
Franceschini, P.1
Guala, A.2
Licata, D.3
Di Cara, G.4
Franceschini, D.5
-
22
-
-
0015545061
-
Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue
-
Greenfield G, Stein R, Romano A, Goodman RM. 1973. Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue. Clin Genet 4:8-16.
-
(1973)
Clin Genet
, vol.4
, pp. 8-16
-
-
Greenfield, G.1
Stein, R.2
Romano, A.3
Goodman, R.M.4
-
23
-
-
84876808998
-
-
Costello syndrome (January 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at
-
Gripp KW, Lin AE. 2012a. Costello syndrome (January 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
-
(2012)
-
-
Gripp, K.W.1
Lin, A.E.2
-
24
-
-
85027948290
-
Costello syndrome: A Ras/MAPK pathway syndrome (Rasopathy) resulting from HRAS germline mutations
-
Gripp KW, Lin AE. 2012b. Costello syndrome: A Ras/MAPK pathway syndrome (Rasopathy) resulting from HRAS germline mutations. Genet Med 14:285-292.
-
(2012)
Genet Med
, vol.14
, pp. 285-292
-
-
Gripp, K.W.1
Lin, A.E.2
-
25
-
-
0026548380
-
Keratoconus in the mentally retarded
-
Haugen OH. 1992. Keratoconus in the mentally retarded. Acta Ophthalmologica 70:111-114.
-
(1992)
Acta Ophthalmologica
, vol.70
, pp. 111-114
-
-
Haugen, O.H.1
-
26
-
-
0036566556
-
VS X1: A gene for posterior polymorphous dystrophy and keratoconus
-
Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. 2002. VS X1: A gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 11:1029-1036.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1029-1036
-
-
Heon, E.1
Greenberg, A.2
Kopp, K.K.3
Rootman, D.4
Vincent, A.L.5
Billingsley, G.6
Priston, M.7
Dorval, K.M.8
Chow, R.L.9
McInnes, R.R.10
Heathcote, G.11
Westall, C.12
Sutphin, J.E.13
Semina, E.14
Bremner, R.15
Stone, E.M.16
-
27
-
-
0033927046
-
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein
-
Hinek A, Smith AC, Cutiongco EM, Callahan JW, Gripp KW, Weksberg R. 2000. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am J Hum Genet 66:859-872.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 859-872
-
-
Hinek, A.1
Smith, A.C.2
Cutiongco, E.M.3
Callahan, J.W.4
Gripp, K.W.5
Weksberg, R.6
-
28
-
-
80955145750
-
Mutation altering the miR-184 seed region causes familial keratoconus with cataract
-
Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE. 2011. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet 89:628-633.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 628-633
-
-
Hughes, A.E.1
Bradley, D.T.2
Campbell, M.3
Lechner, J.4
Dash, D.P.5
Simpson, D.A.6
Willoughby, C.E.7
-
29
-
-
0346788528
-
Keratoconous associated with hyperimmunoglobulin E syndrome
-
Kim J, Netto MV. 2004. Keratoconous associated with hyperimmunoglobulin E syndrome. Cornea 23:93-96.
-
(2004)
Cornea
, vol.23
, pp. 93-96
-
-
Kim, J.1
Netto, M.V.2
-
30
-
-
84855367370
-
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries
-
Li X, Bykhovskaya Y, Haritunians T, Siscovick D, Aldave A, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. 2012. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum Mol Genet 21:421-429.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 421-429
-
-
Li, X.1
Bykhovskaya, Y.2
Haritunians, T.3
Siscovick, D.4
Aldave, A.5
Szczotka-Flynn, L.6
Iyengar, S.K.7
Rotter, J.I.8
Taylor, K.D.9
Rabinowitz, Y.S.10
-
31
-
-
79952017072
-
Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK Pathway syndrome
-
Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Ines AM, Aoki Y, Silberbach M, Del-Rue MA, While SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. 2011. Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK Pathway syndrome. Am J Med Genet Part A 155A:486-507.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 486-507
-
-
Lin, A.E.1
Alexander, M.E.2
Colan, S.D.3
Kerr, B.4
Rauen, K.A.5
Noonan, J.6
Baffa, J.7
Hopkins, E.8
Sol-Church, K.9
Limongelli, G.10
Digilio, M.C.11
Marino, B.12
Ines, A.M.13
Aoki, Y.14
Silberbach, M.15
Del-Rue, M.A.16
While, S.M.17
Hamilton, R.M.18
O'Connor, W.19
Grossfeld, P.D.20
Smoot, L.B.21
Padera, R.F.22
Gripp, K.W.23
more..
-
32
-
-
0025916611
-
Keratokonus and Turner's syndrome. A case report
-
Nucci P, Trabucchi G, Brancato R. 1991. Keratokonus and Turner's syndrome. A case report. Optom Vis Sci 68:407-408.
-
(1991)
Optom Vis Sci
, vol.68
, pp. 407-408
-
-
Nucci, P.1
Trabucchi, G.2
Brancato, R.3
-
33
-
-
0028107405
-
Bilateral keratoconus in Crouzon's syndrome
-
Perlman JM, Zaidman GW. 1994. Bilateral keratoconus in Crouzon's syndrome. Cornea 13:80-81.
-
(1994)
Cornea
, vol.13
, pp. 80-81
-
-
Perlman, J.M.1
Zaidman, G.W.2
-
34
-
-
84860272499
-
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
-
Piccione M, Serra G, Sanfilippo C, Andreucci E, Sani I, Corsello G. 2012. A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus. Minerva Pediatr 1:59-64.
-
(2012)
Minerva Pediatr
, vol.1
, pp. 59-64
-
-
Piccione, M.1
Serra, G.2
Sanfilippo, C.3
Andreucci, E.4
Sani, I.5
Corsello, G.6
-
35
-
-
18744384694
-
Corneal graft rejection after penetrating keratoplasty for keratoconus in Turner's syndrome
-
Pinna A, Salvo M, Dore S, Carta F. 2005. Corneal graft rejection after penetrating keratoplasty for keratoconus in Turner's syndrome. Eur J Ophthalmol 15:271-273.
-
(2005)
Eur J Ophthalmol
, vol.15
, pp. 271-273
-
-
Pinna, A.1
Salvo, M.2
Dore, S.3
Carta, F.4
-
36
-
-
78649270479
-
Keratoconus associated with Williams-Beuren syndrome: First case reports
-
Pinsard L, Touboul D, Vu Y, Lacombe D, Leger F, Colin J. 2010. Keratoconus associated with Williams-Beuren syndrome: First case reports. Ophthalmic Genet 31:252-256.
-
(2010)
Ophthalmic Genet
, vol.31
, pp. 252-256
-
-
Pinsard, L.1
Touboul, D.2
Vu, Y.3
Lacombe, D.4
Leger, F.5
Colin, J.6
-
38
-
-
0026068237
-
Ocular anomalies in Alagille's syndrome
-
Ricci B, Lepore D, Iossa M, Santo A, Chiaretti A. 1991. Ocular anomalies in Alagille's syndrome. J Fr Ophtalmol 14:481-485.
-
(1991)
J Fr Ophtalmol
, vol.14
, pp. 481-485
-
-
Ricci, B.1
Lepore, D.2
Iossa, M.3
Santo, A.4
Chiaretti, A.5
-
39
-
-
0031004012
-
Manifestations in institutionalised adults with Angelman syndrome due to deletion
-
Sandanam T, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. 1997. Manifestations in institutionalised adults with Angelman syndrome due to deletion. Am J Med Genet 70:415-420.
-
(1997)
Am J Med Genet
, vol.70
, pp. 415-420
-
-
Sandanam, T.1
Beange, H.2
Robson, L.3
Woolnough, H.4
Buchholz, T.5
Smith, A.6
-
40
-
-
0015352270
-
Noonan's syndrome associated with ocular abnormalities
-
Schwartz DE. 1972. Noonan's syndrome associated with ocular abnormalities. Am J Ophthalmol 73:955-960.
-
(1972)
Am J Ophthalmol
, vol.73
, pp. 955-960
-
-
Schwartz, D.E.1
-
41
-
-
61749088580
-
Male to male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
-
Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW. 2009. Male to male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am J Med Genet Part A 149A:315-321.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 315-321
-
-
Sol-Church, K.1
Stabley, D.L.2
Demmer, L.A.3
Agbulos, A.4
Lin, A.E.5
Smoot, L.6
Nicholson, L.7
Gripp, K.W.8
-
42
-
-
3442899349
-
Prevalence of ocular diagnoses found on screening 1539 adults with intellectual disabilities
-
Van Splunder J, Stilma JS, Bernsen RMD, Evenhuis HM. 2004. Prevalence of ocular diagnoses found on screening 1539 adults with intellectual disabilities. Ophthalmology 111:1457-1463.
-
(2004)
Ophthalmology
, vol.111
, pp. 1457-1463
-
-
Van Splunder, J.1
Stilma, J.S.2
Bernsen, R.M.D.3
Evenhuis, H.M.4
-
43
-
-
0025011537
-
GAPO syndrome (McKusick 23074)-A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older
-
Wajntal A, Koiffmann CP, Mendonca BB, Epps-Quaglia D, Sotto MN, Rati PBM, Opitz JM. 1990. GAPO syndrome (McKusick 23074)-A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older. Am J Med Genet 37:213-223.
-
(1990)
Am J Med Genet
, vol.37
, pp. 213-223
-
-
Wajntal, A.1
Koiffmann, C.P.2
Mendonca, B.B.3
Epps-Quaglia, D.4
Sotto, M.N.5
Rati, P.B.M.6
Opitz, J.M.7
-
44
-
-
22044432006
-
The adult phenotype in Costello syndrome
-
White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. 2005. The adult phenotype in Costello syndrome. Am J Med Genet Part A 136A:128-135.
-
(2005)
Am J Med Genet Part A
, vol.136 A
, pp. 128-135
-
-
White, S.M.1
Graham Jr., J.M.2
Kerr, B.3
Gripp, K.4
Weksberg, R.5
Cytrynbaum, C.6
Reeder, J.L.7
Stewart, F.J.8
Edwards, M.9
Wilson, M.10
Bankier, A.11
-
45
-
-
0017383557
-
Bilateral keratoconus in Crouzon's syndrome with unilateral acute hydrops
-
Wolter JR. 1977. Bilateral keratoconus in Crouzon's syndrome with unilateral acute hydrops. J Pediatr Ophthalmol 14:141-143.
-
(1977)
J Pediatr Ophthalmol
, vol.14
, pp. 141-143
-
-
Wolter, J.R.1
-
46
-
-
33845354907
-
Long-term graft survival in patients with Down syndrome after penetrating keratoplasty
-
Wroblewski KJ, Mader TH, Torres MF, Parmley VC, Rotkis WM. 2006. Long-term graft survival in patients with Down syndrome after penetrating keratoplasty. Cornea 9:1026-1028.
-
(2006)
Cornea
, vol.9
, pp. 1026-1028
-
-
Wroblewski, K.J.1
Mader, T.H.2
Torres, M.F.3
Parmley, V.C.4
Rotkis, W.M.5
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