-
1
-
-
3242740110
-
-
On line Mendelian Inheritance in Man. (available from)
-
On line Mendelian Inheritance in Man. (available from: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/ 2003).
-
(2003)
-
-
-
2
-
-
0029807866
-
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25
-
Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet 1996: 59: 1321-1327.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1321-1327
-
-
Mears, A.J.1
Mirzayans, F.2
Gould, D.B.3
Pearce, W.G.4
Walter, M.A.5
-
3
-
-
17344368672
-
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
-
Nishimura DY, Swiderski RE, Alward WLM et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998: 19: 140-147.
-
(1998)
Nat. Genet.
, vol.19
, pp. 140-147
-
-
Nishimura, D.Y.1
Swiderski, R.E.2
Alward, W.L.M.3
-
4
-
-
0030870983
-
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly
-
Jordan T, Ebenezer N, Manners R, McGill J, Bhattacharya S. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet 1997: 61: 882-888.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 882-888
-
-
Jordan, T.1
Ebenezer, N.2
Manners, R.3
McGill, J.4
Bhattacharya, S.5
-
5
-
-
0029091048
-
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
-
Heon E, Sheth BP, Kalenak JW et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 1995: 4: 1435-1439.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1435-1439
-
-
Heon, E.1
Sheth, B.P.2
Kalenak, J.W.3
-
6
-
-
0020612595
-
Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: Four-generation family with Rieger's syndrome
-
Chisholm IA, Chudley AE. Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome. Br J Ophthalmol 1983: 67: 529-534.
-
(1983)
Br. J. Ophthalmol.
, vol.67
, pp. 529-534
-
-
Chisholm, I.A.1
Chudley, A.E.2
-
7
-
-
0031019133
-
t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193
-
Flomen RH, Gorman PA, Vatcheva R et al. t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet 1997:34: 191-195.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 191-195
-
-
Flomen, R.H.1
Gorman, P.A.2
Vatcheva, R.3
-
8
-
-
0018257937
-
The Rieger syndrome
-
Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. Am J Med Genet 1978: 2: 307-318.
-
(1978)
Am. J. Med. Genet.
, vol.2
, pp. 307-318
-
-
Jorgenson, R.J.1
Levin, L.S.2
Cross, H.E.3
Yoder, F.4
Kelly, T.E.5
-
9
-
-
10544233785
-
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
-
Semina EV, Reiter R, Leysens NJ et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996: 14: 392-399.
-
(1996)
Nat. Genet.
, vol.14
, pp. 392-399
-
-
Semina, E.V.1
Reiter, R.2
Leysens, N.J.3
-
10
-
-
18744421322
-
Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene
-
Flomen RH, Vatcheva R, Gorman PA et al. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998: 47: 409-413.
-
(1998)
Genomics
, vol.47
, pp. 409-413
-
-
Flomen, R.H.1
Vatcheva, R.2
Gorman, P.A.3
-
11
-
-
0032877883
-
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2-alpha that affects anterior eye chamber development
-
Davies AF, Mirza G, Flinter F, Ragoussis J. An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2-alpha that affects anterior eye chamber development. J Med Genet 1999: 36: 708-710.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 708-710
-
-
Davies, A.F.1
Mirza, G.2
Flinter, F.3
Ragoussis, J.4
-
12
-
-
0037092595
-
Molecular genetics of Axenfeld-Rieger malformations
-
Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 2002: 11: 1177-1184.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1177-1184
-
-
Lines, M.A.1
Kozlowski, K.2
Walter, M.A.3
-
13
-
-
84907112845
-
A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance
-
García-Cruz D, Mendoza R, Villar V et al. A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance. Ophthalmol Paediatr Genet 1990: 11 (1): 35-40.
-
(1990)
Ophthalmol. Paediatr. Genet.
, vol.11
, Issue.1
, pp. 35-40
-
-
García-Cruz, D.1
Mendoza, R.2
Villar, V.3
-
14
-
-
3242658048
-
-
London Dysmorphology Database, Oxford Medical Database: Oxford University Press electronic publishing, Oxford, CD-Rom Version 1.0
-
London Dysmorphology Database, Oxford Medical Database: Oxford University Press electronic publishing, Oxford, CD-Rom Version 1.0, 1996.
-
(1996)
-
-
-
15
-
-
0033834486
-
Axenfeld-Rieger syndrome in the age of the molecular genetics
-
Alward WL. Axenfeld-Rieger syndrome in the age of the molecular genetics. Am J Ophthalmol 2000: 130 (1): 107-115.
-
(2000)
Am. J. Ophthalmol.
, vol.130
, Issue.1
, pp. 107-115
-
-
Alward, W.L.1
-
18
-
-
17944385621
-
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
-
Alward WLM, Fingert JH, Coote MA et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998: 338: 1022-1027.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1022-1027
-
-
Alward, W.L.M.1
Fingert, J.H.2
Coote, M.A.3
-
19
-
-
0029655595
-
The distinction between juvenile and adult-onset primary open-angle glaucoma
-
(Letter)
-
Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adult-onset primary open-angle glaucoma (Letter). Am J Hum Genet 1996: 58: 243-244.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 243-244
-
-
Wiggs, J.L.1
Damji, K.F.2
Haines, J.L.3
Pericak-Vance, M.A.4
Allingham, R.R.5
-
20
-
-
24244463574
-
-
Personal communication. Guadalajara, Mexico
-
García-Cruz D. Personal communication. Guadalajara, Mexico, 2003.
-
(2003)
-
-
García-Cruz, D.1
-
21
-
-
0025815417
-
Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype
-
Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraitser M. Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype. Am J Med Genet 1991: 40: 417-420.
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 417-420
-
-
Chitty, L.S.1
McCrimmon, R.2
Temple, I.K.3
Russell-Eggitt, I.M.4
Baraitser, M.5
|