-
2
-
-
0020971487
-
Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
-
Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. 1983;81:736-784.
-
(1983)
Trans am Ophthalmol Soc
, vol.81
, pp. 736-784
-
-
Shields, M.B.1
-
4
-
-
0009252517
-
Erbliches jugendliches Glaukom
-
Berg F. Erbliches jugendliches Glaukom. Acta Ophthalmol. 1932;10:568-587.
-
(1932)
Acta Ophthalmol
, vol.10
, pp. 568-587
-
-
Berg, F.1
-
5
-
-
0014545493
-
Familial hypoplasia of the iris stroma associated with glaucoma
-
Weatherill JR, Hart CT. Familial hypoplasia of the iris stroma associated with glaucoma Br J Ophthalmol. 1969;53:433-438.
-
(1969)
Br J Ophthalmol
, vol.53
, pp. 433-438
-
-
Weatherill, J.R.1
Hart, C.T.2
-
6
-
-
0015370637
-
Dominant goniodysgenesis with late congenital glaucoma: A reexamination of Berg's pedigree
-
Jerndal T. Dominant goniodysgenesis with late congenital glaucoma: a reexamination of Berg's pedigree. Am J Ophthalmol. 1972;74:28-33.
-
(1972)
Am J Ophthalmol
, vol.74
, pp. 28-33
-
-
Jerndal, T.1
-
7
-
-
0029852490
-
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct
-
Walter MA, Mirzayans F, Mears AJ, Hickey K, Pearce WG. Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology. 1996;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
-
8
-
-
0020612595
-
Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: 4-generation family with Rieger's syndrome
-
Chisholm IA, Chudley AE. Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: 4-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
-
9
-
-
0016263210
-
Familial glaucoma in nine generations of a South Hampshire family
-
Martin JP, Zorab EC. Familial glaucoma in nine generations of a South Hampshire family. Br J Ophthalmol. 1974;58:536-542.
-
(1974)
Br J Ophthalmol
, vol.58
, pp. 536-542
-
-
Martin, J.P.1
Zorab, E.C.2
-
10
-
-
0020459525
-
Autosomal dominant iridogoniodysgenesis: A genetic and clinical study
-
Pearce WG, Wyatt HT, Boyd TA, Ombres RS, Salter AB. Autosomal dominant iridogoniodysgenesis: a genetic and clinical study. Birth Defects. 1982;18:561-569.
-
(1982)
Birth Defects
, vol.18
, pp. 561-569
-
-
Pearce, W.G.1
Wyatt, H.T.2
Boyd, T.A.3
Ombres, R.S.4
Salter, A.B.5
-
11
-
-
0020663453
-
Autosomal dominant iridogoniodysgenesis: Genetic features
-
Pearce WG, Wyatt HT, Boyd TA, Ombres RS, Salter AB. Autosomal dominant iridogoniodysgenesis: genetic features. Can J Ophthalmol. 1983;18:7-10.
-
(1983)
Can J Ophthalmol
, vol.18
, pp. 7-10
-
-
Pearce, W.G.1
Wyatt, H.T.2
Boyd, T.A.3
Ombres, R.S.4
Salter, A.B.5
-
12
-
-
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; 4:1425-1439.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1425-1439
-
-
Heon, E.1
Sheth, B.P.2
Kalenak, J.W.3
-
13
-
-
0026920886
-
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
-
Murray JC, Bennett SR, Kwitek AE, et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992; 2:46-49.
-
(1992)
Nat Genet
, vol.2
, pp. 46-49
-
-
Murray, J.C.1
Bennett, S.R.2
Kwitek, A.E.3
-
14
-
-
19244364120
-
Closing in on the Rieger syndrome gene on 4q45: Mapping translocation breakpoints within a 50-kb region
-
Datson NA, Semina E, van Staalduinen AAA, et al. Closing in on the Rieger syndrome gene on 4q45: mapping translocation breakpoints within a 50-kb region. Am J Hum Genet. 1996;59:1297-1305.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1297-1305
-
-
Datson, N.A.1
Semina, E.2
Van Staalduinen, A.A.A.3
-
15
-
-
0029762015
-
A second locus for Rieger syndrome maps to chromosome 13q14
-
Phillips JC, Del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996;59:613-619.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 613-619
-
-
Phillips, J.C.1
Del Bono, E.A.2
Haines, J.L.3
-
16
-
-
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
-
18
-
-
0020522839
-
Contributions of placodal and neural crest cells to avian cranial peripheral ganglia
-
D'Amico-Martel A, Noden DM. Contributions of placodal and neural crest cells to avian cranial peripheral ganglia. Am J Anat. 1983;166:445-468.
-
(1983)
Am J Anat
, vol.166
, pp. 445-468
-
-
D'Amico-Martel, A.1
Noden, D.M.2
-
20
-
-
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. 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. 1988;102:427-442.
-
(1988)
Development
, vol.102
, pp. 427-442
-
-
Chan, W.Y.1
Tam, P.P.L.2
-
21
-
-
0018253373
-
New hypothesis of developmental anomalies of the anterior chamber associated with glaucoma
-
Kupfer C, Kaiser-Kupfer MI. New hypothesis of developmental anomalies of the anterior chamber associated with glaucoma. Trans Ophthalmol Soc U K. 1978; 98:213-215.
-
(1978)
Trans Ophthalmol Soc U K
, vol.98
, pp. 213-215
-
-
Kupfer, C.1
Kaiser-Kupfer, M.I.2
-
22
-
-
0018293514
-
Observations on the development of the anterior chamber angle with reference to pathogenesis of congenital glaucomas
-
Kupfer C, Kaiser-Kupfer MI. Observations on the development of the anterior chamber angle with reference to pathogenesis of congenital glaucomas. Am J Ophthalmol. 1979;88:424-426.
-
(1979)
Am J Ophthalmol
, vol.88
, pp. 424-426
-
-
Kupfer, C.1
Kaiser-Kupfer, M.I.2
-
23
-
-
0024328591
-
Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma
-
Tripathi BJ, Tripathi RC. Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma. Am J Ophthalmol. 1989;107:583-590.
-
(1989)
Am J Ophthalmol
, vol.107
, pp. 583-590
-
-
Tripathi, B.J.1
Tripathi, R.C.2
-
24
-
-
0019512801
-
Oculocutaneous albinism associated with corneal mesodermal dysgenesis
-
Lubin JR. Oculocutaneous albinism associated with corneal mesodermal dysgenesis. Am J Ophthalmol. 1981;91:347-350.
-
(1981)
Am J Ophthalmol
, vol.91
, pp. 347-350
-
-
Lubin, J.R.1
-
26
-
-
6844235537
-
Mendelian disorders
-
Harvey MA, Johns RJ, McKusick VA, Owens AH, Ross RS, eds. East Norwalk, Conn: Appleton & Lange 5.3
-
McKusick VA. Mendelian disorders. In: Harvey MA, Johns RJ, McKusick VA, Owens AH, Ross RS, eds. The Principles and Practice of Medicine. 22nd ed. East Norwalk, Conn: Appleton & Lange; 1988;5.3:281-299.
-
(1988)
The Principles and Practice of Medicine. 22nd Ed.
, pp. 281-299
-
-
McKusick, V.A.1
-
27
-
-
0020518062
-
Congenital glaucoma due to dominant goniodysgenesis: A new concept of the heredity of glaucoma
-
Jerndal T. Congenital glaucoma due to dominant goniodysgenesis: a new concept of the heredity of glaucoma. Am J Hum Genet. 1983;35:645-651.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 645-651
-
-
Jerndal, T.1
-
28
-
-
0001669258
-
Embryotoxon corneae posterius
-
Axenfeld T. Embryotoxon corneae posterius. Berl Deutsch Ophthalmol Ges. 1920; 42:301-302.
-
(1920)
Berl Deutsch Ophthalmol Ges
, vol.42
, pp. 301-302
-
-
Axenfeld, T.1
-
29
-
-
34347144543
-
Beitrage zur Kenntniss seltener Missbildungen der Iris,II: Über Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille
-
Rieger H. Beitrage zur Kenntniss seltener Missbildungen der Iris,II: über Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Graefes Arch Clin Exp Ophthalmol. 1935;133:602-635.
-
(1935)
Graefes Arch Clin Exp Ophthalmol
, vol.133
, pp. 602-635
-
-
Rieger, H.1
-
30
-
-
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
-
31
-
-
0018552662
-
The Rieger syndrome: An autosomal dominant disorder with ocular, dental, and systemic abnormalities
-
Cross HE, Jorgenson RJ, Levin LS, Kelly TE. The Rieger syndrome: an autosomal dominant disorder with ocular, dental, and systemic abnormalities. Perspect Ophthalmol. 1979;3:3-16.
-
(1979)
Perspect Ophthalmol
, vol.3
, pp. 3-16
-
-
Cross, H.E.1
Jorgenson, R.J.2
Levin, L.S.3
Kelly, T.E.4
-
32
-
-
6844233454
-
Multiple occurrence of atrial septal defect in a family
-
Zettergvist P. Multiple occurrence of atrial septal defect in a family. Acta Paediatr. 1960;49:741-747.
-
(1960)
Acta Paediatr
, vol.49
, pp. 741-747
-
-
Zettergvist, P.1
-
34
-
-
0014191633
-
Inheritance of atrial septal defect
-
Johansson BW, Sievers J. Inheritance of atrial septal defect. Lancet. 1967;1: 1224-1225.
-
(1967)
Lancet
, vol.1
, pp. 1224-1225
-
-
Johansson, B.W.1
Sievers, J.2
-
35
-
-
0015165538
-
Dominant mode of inheritance in atrial septal defect
-
Zetterqvist P, Turesson I, Johansson BW, Laurell S, Ohlsson NM. Dominant mode of inheritance in atrial septal defect. Clin Genet. 1971;2:78-86.
-
(1971)
Clin Genet
, vol.2
, pp. 78-86
-
-
Zetterqvist, P.1
Turesson, I.2
Johansson, B.W.3
Laurell, S.4
Ohlsson, N.M.5
-
36
-
-
0018231395
-
Hereditary atrial septal defect: Update of a large kindred
-
Lynch HT, Bachenberg K, Harris RE, Becker W. Hereditary atrial septal defect: update of a large kindred. AJDC. 1978;132:600-604.
-
(1978)
AJDC
, vol.132
, pp. 600-604
-
-
Lynch, H.T.1
Bachenberg, K.2
Harris, R.E.3
Becker, W.4
-
37
-
-
0026663506
-
Genetic deafness
-
Reardon W. Genetic deafness. J Med Genet. 1992;29:521-526.
-
(1992)
J Med Genet
, vol.29
, pp. 521-526
-
-
Reardon, W.1
-
38
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet. 1997;60:758-764.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.H.3
-
39
-
-
0342869789
-
A case of Rieger's disease (dysgenesis mesodermalis corneae et iridis)
-
Zygulska-Machowa H. A case of Rieger's disease (dysgenesis mesodermalis corneae et iridis). Klin Oczna. 1964;34:153-158.
-
(1964)
Klin Oczna
, vol.34
, pp. 153-158
-
-
Zygulska-Machowa, H.1
-
40
-
-
0028142341
-
Cardiac valvular disease and Axenfeld-Rieger syndrome
-
Tsai JC, Grajewski AL. Cardiac valvular disease and Axenfeld-Rieger syndrome. Am J Ophthalmol. 1994;118:255-256.
-
(1994)
Am J Ophthalmol
, vol.118
, pp. 255-256
-
-
Tsai, J.C.1
Grajewski, A.L.2
-
41
-
-
0013807346
-
Un cas d'embryotoxon posterieur avec buphtalmie et malformation cardiaque
-
Haye C, Blanck C. Un cas d'embryotoxon posterieur avec buphtalmie et malformation cardiaque. Arch Ophthalmol. 1965;25:621-624.
-
(1965)
Arch Ophthalmol
, vol.25
, pp. 621-624
-
-
Haye, C.1
Blanck, C.2
-
42
-
-
0023816091
-
A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4
-
Beal MH, Falk RE, Ying K-L. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. Am J Med Genet. 1988;31:553-557.
-
(1988)
Am J Med Genet
, vol.31
, pp. 553-557
-
-
Beal, M.H.1
Falk, R.E.2
Ying, K.-L.3
-
43
-
-
0015597285
-
Deletion from the long arm of chromosome 4 (46,XX,4g-) associated with congenital anomalies
-
Golbus MS, Conte FA, Daentl DL. Deletion from the long arm of chromosome 4 (46,XX,4g-) associated with congenital anomalies. J Med Genet. 1973;10:83-85.
-
(1973)
J Med Genet
, vol.10
, pp. 83-85
-
-
Golbus, M.S.1
Conte, F.A.2
Daentl, D.L.3
-
44
-
-
0016198877
-
A propos d'un cas de deletion du bras long du chromosome B4 (B4q-)
-
Ferrier S, Freund M. A propos d'un cas de deletion du bras long du chromosome B4 (B4q-). Arch Genet. 1974;47:16-26.
-
(1974)
Arch Genet
, vol.47
, pp. 16-26
-
-
Ferrier, S.1
Freund, M.2
-
45
-
-
0016707084
-
A patient with congenital anomalies and a deletion of the long arm of chromosome 4
-
Van Kempen C. A patient with congenital anomalies and a deletion of the long arm of chromosome 4. J Med Genet. 1975;12:204-206.
-
(1975)
J Med Genet
, vol.12
, pp. 204-206
-
-
Van Kempen, C.1
-
46
-
-
0017649569
-
Pericentric inversion and partial monosomy 4q associated with congenital anomalies
-
Serville F, Froustet A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet. 1977;39:239-242.
-
(1977)
Hum Genet
, vol.39
, pp. 239-242
-
-
Serville, F.1
Froustet, A.2
-
47
-
-
0019487212
-
Deletions of different segments of the long arm of chromosome 4
-
Mitchell JA, Packman S, Loughman WD, et al. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet. 1981;8:73-89.
-
(1981)
Am J Med Genet
, vol.8
, pp. 73-89
-
-
Mitchell, J.A.1
Packman, S.2
Loughman, W.D.3
-
49
-
-
0025756294
-
Second case report of del(4)(q25g27) and review of the literature
-
Raczenbek C, Krassikoff N, Cosper P. Second case report of del(4)(q25g27) and review of the literature. Clin Genet. 1991;39:463-466.
-
(1991)
Clin Genet
, vol.39
, pp. 463-466
-
-
Raczenbek, C.1
Krassikoff, N.2
Cosper, P.3
-
50
-
-
0025807605
-
Interstitial deletion of 4(q21q25) in a liveborn male
-
Rose NC, Schneider A, McDonald-McGinn DM, Christine C, Emanuel BS, Zackai EH. Interstitial deletion of 4(q21q25) in a liveborn male. Am J Med Genet. 1991; 40:77-79.
-
(1991)
Am J Med Genet
, vol.40
, pp. 77-79
-
-
Rose, N.C.1
Schneider, A.2
McDonald-McGinn, D.M.3
Christine, C.4
Emanuel, B.S.5
Zackai, E.H.6
-
51
-
-
0020640517
-
Neural crest cells contribute to aorticopulmonary septation
-
Kirby ML, Gale TF, Stewart DE. Neural crest cells contribute to aorticopulmonary septation. Science. 1983;220:1059-1061.
-
(1983)
Science
, vol.220
, pp. 1059-1061
-
-
Kirby, M.L.1
Gale, T.F.2
Stewart, D.E.3
-
52
-
-
0025321049
-
Alteration of cardiogenesis after neural crest ablation
-
Kirby ML. Alteration of cardiogenesis after neural crest ablation. Ann N Y Acad Sci. 1990;588:289-295.
-
(1990)
Ann N Y Acad Sci
, vol.588
, pp. 289-295
-
-
Kirby, M.L.1
-
54
-
-
0016162989
-
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome)
-
Sadeghi-Nejad A, Senior B. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J Pediatr. 1974; 85:644-648.
-
(1974)
J Pediatr
, vol.85
, pp. 644-648
-
-
Sadeghi-Nejad, A.1
Senior, B.2
-
55
-
-
0019725944
-
Primary empty sella and Rieger's anomaly of the anterior chamber of the eye: A familial syndrome
-
Kleinman RE, Kazarian EL, Raptopoulos V, Braverman LE. Primary empty sella and Rieger's anomaly of the anterior chamber of the eye: a familial syndrome. N Engl J Med. 1981;304:90-93.
-
(1981)
N Engl J Med
, vol.304
, pp. 90-93
-
-
Kleinman, R.E.1
Kazarian, E.L.2
Raptopoulos, V.3
Braverman, L.E.4
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