-
1
-
-
0033834486
-
Axenfeld-Rieger syndrome in the age of molecular genetics
-
Alward WL (2000). Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Opthalmol 130:107-115
-
(2000)
Am J Opthalmol
, vol.130
, pp. 107-115
-
-
Alward, W.L.1
-
2
-
-
41949086113
-
Axenfeld-Rieger syndrome and pseudotruncus arteriosus
-
[Epub 2007 Apr 16]
-
Aysenur Pac F, Cagdas DN, Necati Demir M (2008). Axenfeld-Rieger syndrome and pseudotruncus arteriosus. Int J Cardiol 126:e4-e7. [Epub 2007 Apr 16]
-
(2008)
Int J Cardiol
, vol.126
-
-
Aysenur Pac, F.1
Cagdas, D.N.2
Necati Demir, M.3
-
3
-
-
0035341261
-
Axenfeld-Rieger anomaly, hypertelorism, clinodactly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)
-
Baruch AC, Erickson RP (2001). Axenfeld-Rieger anomaly, hypertelorism, clinodactly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). Am J Med Genet 100:187-190
-
(2001)
Am J Med Genet
, vol.100
, pp. 187-190
-
-
Baruch, A.C.1
Erickson, R.P.2
-
4
-
-
0023816091
-
A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4
-
Beall MH, Falk RE, Ying KL (1988). A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. Am J Med Genet 31:553-557
-
(1988)
Am J Med Genet
, vol.31
, pp. 553-557
-
-
Beall, M.H.1
Falk, R.E.2
Ying, K.L.3
-
5
-
-
0035914124
-
Integration between the epibranchial placodes and the hindbrain
-
Begbie J, Graham A (2001). Integration between the epibranchial placodes and the hindbrain. Science 294:595-598
-
(2001)
Science
, vol.294
, pp. 595-598
-
-
Begbie, J.1
Graham, A.2
-
6
-
-
0342948782
-
Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome
-
Bekir NA, Gungor K (2000). Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scan 78:101-103
-
(2000)
Acta Ophthalmol Scan
, vol.78
, pp. 101-103
-
-
Bekir, N.A.1
Gungor, K.2
-
7
-
-
33748577628
-
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son
-
Calcagni G, Digilio MC, Capolino R, Dallapiccola B, Marino B (2006). Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son. Clin Dysmorphol 15:203-206
-
(2006)
Clin Dysmorphol
, vol.15
, pp. 203-206
-
-
Calcagni, G.1
Digilio, M.C.2
Capolino, R.3
Dallapiccola, B.4
Marino, B.5
-
8
-
-
0023832833
-
A morphological and experimental study of the mesencephalic neural crest cells in the mouse embryo using wheat germ agglutinin-gold conjugate as the cell marker
-
Chan WY, Tam PPL (1988). A morphological and experimental study of the mesencephalic neural crest cells in the mouse embryo using wheat germ agglutinin-gold conjugate as the cell marker. Development 102:427-442
-
(1988)
Development
, vol.102
, pp. 427-442
-
-
Chan, W.Y.1
Tam, P.P.L.2
-
9
-
-
6844251598
-
Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. A possible new genetic syndrome
-
Cunningham ET Jr, Elliot D, Miller NR, Maumenee IH, Green WR (1998). Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. A possible new genetic syndrome. Arch Ophthalmol 116:78-82
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 78-82
-
-
Cunningham Jr, E.T.1
Elliot, D.2
Miller, N.R.3
Maumenee, I.H.4
Green, W.R.5
-
10
-
-
0020522839
-
Contributions of placodal and neural crest cells to avian cranial peripheral ganglia
-
D'Amico-Martel A, Noden DM (1983). Contributions of placodal and neural crest cells to avian cranial peripheral ganglia. Am J Anat 166:445-468
-
(1983)
Am J Anat
, vol.166
, pp. 445-468
-
-
D'Amico-Martel, A.1
Noden, D.M.2
-
11
-
-
0017806488
-
The Axenfeld syndrome and the Rieger syndrome
-
Fitch N, Kaback M (1978). The Axenfeld syndrome and the Rieger syndrome. J Med Genet 15:30-34
-
(1978)
J Med Genet
, vol.15
, pp. 30-34
-
-
Fitch, N.1
Kaback, M.2
-
12
-
-
0002587405
-
Congenital heart disease in infancy and childhood
-
Braunwald E, Zipes DP, Libby P, editors. 6th editon. Philadelphia: W.B. Saunders Company
-
Friedman WF, Silverman N (2001). Congenital heart disease in infancy and childhood. In: Braunwald E, Zipes DP, Libby P, editors. Heart disease: a textbook of cardiovascular medicine. 6th editon. Philadelphia:W.B. Saunders Company. pp.1543-1548
-
(2001)
Heart Disease: A Textbook of Cardiovascular Medicine
, pp. 1543-1548
-
-
Friedman, W.F.1
Silverman, N.2
-
13
-
-
0015597285
-
Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies
-
Golbus MS, Conte FA, Daentl DL (1973). Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies. J Med Genet 10:83-85
-
(1973)
J Med Genet
, vol.10
, pp. 83-85
-
-
Golbus, M.S.1
Conte, F.A.2
Daentl, D.L.3
-
14
-
-
0037158479
-
Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss. A provisionally unique genetic syndrome?
-
Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, et al. (2002). Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? Am J Med Genet 111:182-186
-
(2002)
Am J Med Genet
, vol.111
, pp. 182-186
-
-
Grosso, S.1
Farnetani, M.A.2
Berardi, R.3
Vivarelli, R.4
Vanni, M.5
Morgese, G.6
-
15
-
-
38349070580
-
Axenfeld-Rieger syndrome associated with truncus arteriosus: A case report
-
Gurbuz-Koz O, Atalay T, Koz C, Ilgin-Ruhi H, Yarangumeli A, Kural G (2007). Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report. Turk J Pediatr 49:444-447
-
(2007)
Turk J Pediatr
, vol.49
, pp. 444-447
-
-
Gurbuz-Koz, O.1
Atalay, T.2
Koz, C.3
Ilgin-Ruhi, H.4
Yarangumeli, A.5
Kural, G.6
-
16
-
-
31044445987
-
Current molecular understanding of Axenfeld-Rieger syndrome
-
Hjalt TA, Semina EV (2005). Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med 7:1-17
-
(2005)
Expert Rev Mol Med
, vol.7
, pp. 1-17
-
-
Hjalt, T.A.1
Semina, E.V.2
-
17
-
-
0037373710
-
A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe11Ser) in the FOXC1 gene
-
Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, et al. (2003). A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe11Ser) in the FOXC1 gene. Am J Ophthalmol 135:368-375
-
(2003)
Am J Ophthalmol
, vol.135
, pp. 368-375
-
-
Honkanen, R.A.1
Nishimura, D.Y.2
Swiderski, R.E.3
Bennett, S.R.4
Hong, S.5
Kwon, Y.H.6
-
18
-
-
0018257937
-
The Rieger syndrome
-
Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE (1978). The Rieger syndrome. Am J Med Genet 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
-
19
-
-
0026353568
-
The neural crest as a possible pathogenetic factor in coarctation of the aorta and bicuspid aortic valve
-
Kappetein AP, Gittenberger-de Groot AC, Zwinderman AH, Rohmer J, Poelman RE, Huysmans HA (1991). The neural crest as a possible pathogenetic factor in coarctation of the aorta and bicuspid aortic valve. J Thorac Cardiovasc Surg 102:830-836
-
(1991)
J Thorac Cardiovasc Surg
, vol.102
, pp. 830-836
-
-
Kappetein, A.P.1
Gittenberger-De Groot, A.C.2
Zwinderman, A.H.3
Rohmer, J.4
Poelman, R.E.5
Huysmans, H.A.6
-
20
-
-
0020640517
-
Neural crest cells contribute to aorticopulmonary septation
-
Kirby ML, Gale TF, Stewart DE (1983). Neural crest cells contribute to aorticopulmonary septation. Science 220:1059-1061
-
(1983)
Science
, vol.220
, pp. 1059-1061
-
-
Kirby, M.L.1
Gale, T.F.2
Stewart, D.E.3
-
21
-
-
0032143617
-
Expression pattern of the winged helix factor XFD-11 during Xenopus embryogenesis
-
Koster M, Dillinger K, Knöchel W (1998). Expression pattern of the winged helix factor XFD-11 during Xenopus embryogenesis. Mech Dev 76:169-173
-
(1998)
Mech Dev
, vol.76
, pp. 169-173
-
-
Koster, M.1
Dillinger, K.2
Knöchel, W.3
-
22
-
-
0035883744
-
The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis
-
Kume T, Jiang H, Topczewska JM, Hogan BL (2001). The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. Genes Dev 15:2470-2482
-
(2001)
Genes Dev
, vol.15
, pp. 2470-2482
-
-
Kume, T.1
Jiang, H.2
Topczewska, J.M.3
Hogan, B.L.4
-
23
-
-
0018253373
-
New hypothesis of developmental anomalies of the anterior chamber associated with glaucoma
-
Kupfer C, Kaiser-Kupfer MI (1978). New hypothesis of developmental anomalies of the anterior chamber associated with glaucoma. Trans Ophthalmol Soc UK 98:213-215
-
(1978)
Trans Ophthalmol Soc UK
, vol.98
, pp. 213-215
-
-
Kupfer, C.1
Kaiser-Kupfer, M.I.2
-
24
-
-
0031857011
-
Distal 6p deletion syndrome: A report of a case with anterior chamber eye anomaly and review of published reports
-
Law CJ, Fishner AM, Temple IK (1998). Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J Med Genet 35:685-689
-
(1998)
J Med Genet
, vol.35
, pp. 685-689
-
-
Law, C.J.1
Fishner, A.M.2
Temple, I.K.3
-
26
-
-
19944431348
-
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
-
Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, et al. (2005). Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet A 132:381-385
-
(2005)
Am J Med Genet A
, vol.132
, pp. 381-385
-
-
MacLean, K.1
Smith, J.2
St Heaps, L.3
Chia, N.4
Williams, R.5
Peters, G.B.6
-
28
-
-
0019487212
-
Deletions of different segments of the long arm of chromosome 4
-
Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, et al. (1981). Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 8:73-89
-
(1981)
Am J Med Genet
, vol.8
, pp. 73-89
-
-
Mitchell, J.A.1
Packman, S.2
Loughman, W.D.3
Fineman, R.M.4
Zackai, E.5
Patil, S.R.6
-
29
-
-
4143069743
-
Growth percentile ranks for Turkish children
-
(Turkish)
-
Neyzi O, Binyildiz P, Alp H (1978). Growth percentile ranks for Turkish children. Ist Tip Fak Mecm 41 (Suppl 74):3-22. (Turkish)
-
(1978)
Ist Tip Fak Mecm
, vol.41
, Issue.SUPPL. 74
, pp. 3-22
-
-
Neyzi, O.1
Binyildiz, P.2
Alp, H.3
-
30
-
-
17344368672
-
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
-
Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, et al. (1998). The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19:140-147
-
(1998)
Nat Genet
, vol.19
, pp. 140-147
-
-
Nishimura, D.Y.1
Swiderski, R.E.2
Alward, W.L.3
Searby, C.C.4
Patil, S.R.5
Bennet, S.R.6
-
31
-
-
0016162989
-
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome)
-
Sadeghi-Nejad A, Senior B (1974). Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J Pediatr 85:644-648
-
(1974)
J Pediatr
, vol.85
, pp. 644-648
-
-
Sadeghi-Nejad, A.1
Senior, B.2
-
32
-
-
0020971487
-
Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
-
Shields MB (1983). Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Opthalmol Soc 81:736-784
-
(1983)
Trans Am Opthalmol Soc
, vol.81
, pp. 736-784
-
-
Shields, M.B.1
-
34
-
-
33644849100
-
Case of 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreus
-
Suzuki K, Nakamura M, Amano E, Mukono K, Shirai S, Terasaki H (2006). Case of 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreus. Am J Med Genet 140A: 503-508
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 503-508
-
-
Suzuki, K.1
Nakamura, M.2
Amano, E.3
Mukono, K.4
Shirai, S.5
Terasaki, H.6
-
35
-
-
0032865861
-
Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects
-
Swiderski RE, Reiter RS, Nishimura DY, Alward WL, Kalenak JW, Searby CS, et al. (1999). Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dyn 216:16-27
-
(1999)
Dev Dyn
, vol.216
, pp. 16-27
-
-
Swiderski, R.E.1
Reiter, R.S.2
Nishimura, D.Y.3
Alward, W.L.4
Kalenak, J.W.5
Searby, C.S.6
-
36
-
-
0024328591
-
Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma
-
Tripathi BJ, Tripathi RC (1989). Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma. Am J Ophthalmol 107:583-590
-
(1989)
Am J Ophthalmol
, vol.107
, pp. 583-590
-
-
Tripathi, B.J.1
Tripathi, R.C.2
-
37
-
-
0029852490
-
Autosomaldominant iridodysgenesis and Axenfeld-Rieger syndrome are genetically distinct
-
Walter MA, Mirzayans F, Mears AJ, Hickey K, Pearce WG (1996). Autosomaldominant iridodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology 103:1907-1915
-
(1996)
Ophthalmology
, vol.103
, pp. 1907-1915
-
-
Walter, M.A.1
Mirzayans, F.2
Mears, A.J.3
Hickey, K.4
Pearce, W.G.5
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