-
1
-
-
0010264033
-
A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome) (Abstract)
-
Ahmad N.N., Ala-Kokko L., Knowlton R.G., Weaver E.J., Maguire J.I., Tasman W., Prockop D.J. A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome) (Abstract). American Journal of Human Genetics. 47(Suppl):1990;A206.
-
(1990)
American Journal of Human Genetics
, vol.47
, Issue.SUPPL.
, pp. 206
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
Weaver, E.J.4
Maguire, J.I.5
Tasman, W.6
Prockop, D.J.7
-
2
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
Ahmad N.N., Ala-Kokko L., Knowlton R.G., Jimenez S.A., Weaver E.J., Maguire J.J.et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proceedings of the National Academy of Science U.S.A. 88:1991;6624-6627.
-
(1991)
Proceedings of the National Academy of Science U.S.A.
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
Jimenez, S.A.4
Weaver, E.J.5
Maguire, J.J.6
-
3
-
-
0027404775
-
A second mutation in the Type II Procollagen gene (COL2A1) causing Stickler Syndrome (Arthro-Ophthalmopathy) is also a premature termination codon
-
Ahmad N.N., McDonald-McGinn D.M., Zackai E.H., Knowlton R.G., La Rossa D., DiMascio J., Prockop D.J. A second mutation in the Type II Procollagen gene (COL2A1) causing Stickler Syndrome (Arthro-Ophthalmopathy) is also a premature termination codon. American Journal of Human Genetics. 52:1993;39-45.
-
(1993)
American Journal of Human Genetics
, vol.52
, pp. 39-45
-
-
Ahmad, N.N.1
McDonald-McGinn, D.M.2
Zackai, E.H.3
Knowlton, R.G.4
La Rossa, D.5
DiMascio, J.6
Prockop, D.J.7
-
4
-
-
0028863623
-
Stickler syndrome: A mutation in the nonhelical 3-prime end of the type II procollagen gene
-
Ahmad N.N., DiMascio J., Knowlton R.G., Tasman W. Stickler syndrome. A mutation in the nonhelical 3-prime end of the type II procollagen gene Archives of Ophthalmology. 113:1995;1454-1457.
-
(1995)
Archives of Ophthalmology
, vol.113
, pp. 1454-1457
-
-
Ahmad, N.N.1
DiMascio, J.2
Knowlton, R.G.3
Tasman, W.4
-
5
-
-
0029742034
-
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: Mutation detection in Stickler syndrome
-
Ahmad N.N., McDonald-McGinn D.M., Dixon P., Zackai E.H., Tasman W.S. PCR assay confirms diagnosis in syndrome with variably expressed phenotype. mutation detection in Stickler syndrome Journal of Medical Genetics. 33:1996;678-681.
-
(1996)
Journal of Medical Genetics
, vol.33
, pp. 678-681
-
-
Ahmad, N.N.1
McDonald-McGinn, D.M.2
Dixon, P.3
Zackai, E.H.4
Tasman, W.S.5
-
6
-
-
0021367917
-
The Marshall and Stickler syndromes: Objective rejection of lumping
-
Aymé S., Preus M. The Marshall and Stickler syndromes. Objective rejection of lumping Journal of Medical Genetics. 21:1984;34-38.
-
(1984)
Journal of Medical Genetics
, vol.21
, pp. 34-38
-
-
Aymé, S.1
Preus, M.2
-
9
-
-
0001672134
-
Zur klinik und pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner)
-
Böhringer H.R., Dieterle P., Landolt E. Zur klinik und pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner). Ophthalmologica. 139:1960;330-338.
-
(1960)
Ophthalmologica
, vol.139
, pp. 330-338
-
-
Böhringer, H.R.1
Dieterle, P.2
Landolt, E.3
-
10
-
-
0026448649
-
Procollagen II gene mutation in Stickler syndrome
-
Brown D.M., Nichols B.E., Weingeist T.A., Sheffield V.C., Kimura A.E., Stone E.M. Procollagen II gene mutation in Stickler syndrome. Archives of Ophthalmology. 110:1992;1589-1593.
-
(1992)
Archives of Ophthalmology
, vol.110
, pp. 1589-1593
-
-
Brown, D.M.1
Nichols, B.E.2
Weingeist, T.A.3
Sheffield, V.C.4
Kimura, A.E.5
Stone, E.M.6
-
11
-
-
0028796139
-
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
-
Brown D.M., Vandenburgh K., Kimura A.E., Weingeist T.A., Sheffield V.C., Stone E.M. Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). Human Molecular Genetics. 4(1):1995;141-142.
-
(1995)
Human Molecular Genetics
, vol.4
, Issue.1
, pp. 141-142
-
-
Brown, D.M.1
Vandenburgh, K.2
Kimura, A.E.3
Weingeist, T.A.4
Sheffield, V.C.5
Stone, E.M.6
-
12
-
-
0028129183
-
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
-
Brunner H.G., van Beersum S.E.C., Warman M.L., Olsen B.R., Ropers H.-H., Mariman E.C.M. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Human Molecular Genetics. 3:1994;1561-1564.
-
(1994)
Human Molecular Genetics
, vol.3
, pp. 1561-1564
-
-
Brunner, H.G.1
Van Beersum, S.E.C.2
Warman, M.L.3
Olsen, B.R.4
Ropers, H.-H.5
Mariman, E.C.M.6
-
13
-
-
0016371045
-
The demise of the Marshall syndrome (Letter)
-
Cohen M.M. The demise of the Marshall syndrome (Letter). Journal of Pediatrics. 85:1974;878.
-
(1974)
Journal of Pediatrics
, vol.85
, pp. 878
-
-
Cohen, M.M.1
-
14
-
-
0023464293
-
The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen
-
Francomano C.A., Liberfarb R.M., Hirose T., Maumenee I.H., Streeten E.A., Meyers D.A., Pyeritz R.E. The Stickler syndrome. Evidence for close linkage to the structural gene for type II collagen Genomics. 1:1987;293-296.
-
(1987)
Genomics
, vol.1
, pp. 293-296
-
-
Francomano, C.A.1
Liberfarb, R.M.2
Hirose, T.3
Maumenee, I.H.4
Streeten, E.A.5
Meyers, D.A.6
Pyeritz, R.E.7
-
15
-
-
0019946512
-
Oto-spondylo-megaepiphyseal dysplasia (OSMED)
-
Giedion A., Brandner M., Lecannellier J., Muhar U., Prader A., Sulzer J., Zweymuller E. Oto-spondylo-megaepiphyseal dysplasia (OSMED). Helv Paediatr Acta. 37:1982;361-380.
-
(1982)
Helv Paediatr Acta
, vol.37
, pp. 361-380
-
-
Giedion, A.1
Brandner, M.2
Lecannellier, J.3
Muhar, U.4
Prader, A.5
Sulzer, J.6
Zweymuller, E.7
-
16
-
-
0016783455
-
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness
-
Hall J.G., Herrod H. The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. Journal of Medical Genetics. 12:1975;397-400.
-
(1975)
Journal of Medical Genetics
, vol.12
, pp. 397-400
-
-
Hall, J.G.1
Herrod, H.2
-
17
-
-
0024336972
-
Thoracic disc herniation and paraplegia in Stickler's syndrome
-
Harkey H.L., Cullom E.T., Parent A.D. Thoracic disc herniation and paraplegia in Stickler's syndrome. Neurosurgery. 24:1989;909-912.
-
(1989)
Neurosurgery
, vol.24
, pp. 909-912
-
-
Harkey, H.L.1
Cullom, E.T.2
Parent, A.D.3
-
18
-
-
0025965251
-
Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss
-
Helfgott S.M., Mosciscki R.A., San Martin J., Lorenzo C., Kieval R., McKenna M.et al. Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss. Lancet. 337:1991;387-389.
-
(1991)
Lancet
, vol.337
, pp. 387-389
-
-
Helfgott, S.M.1
Mosciscki, R.A.2
San Martin, J.3
Lorenzo, C.4
Kieval, R.5
McKenna, M.6
-
19
-
-
0016706017
-
The Stickler syndrome (hereditary arthro-ophthalmopathy)
-
Herrmann J., France T.D., Spranger J.W., Opitz J.M., Wiffler C. The Stickler syndrome (hereditary arthro-ophthalmopathy). Birth Defects: Original Article Series, XI(. 2):1975;76-103.
-
(1975)
Birth Defects: Original Article Series, XI(
, vol.2
, pp. 76-103
-
-
Herrmann, J.1
France, T.D.2
Spranger, J.W.3
Opitz, J.M.4
Wiffler, C.5
-
22
-
-
0020004511
-
The Weissenbacher-Zweymüller syndrome: Possible neonatal expression of the Stickler syndrome
-
Kelly T.E., Wells H.H., Tuck K.B. The Weissenbacher-Zweymüller syndrome. Possible neonatal expression of the Stickler syndrome American Journal of Medical Genetics. 11:1982;118-119.
-
(1982)
American Journal of Medical Genetics
, vol.11
, pp. 118-119
-
-
Kelly, T.E.1
Wells, H.H.2
Tuck, K.B.3
-
23
-
-
0027365381
-
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
-
Körkkö J., Ritvaniemi P., Haataja L., Kääriänen H., Kivirikko K.I., Prockop D.J., Ala-Kokko L. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment. Evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) American Journal of Human Genetics. 53:1993;55-61.
-
(1993)
American Journal of Human Genetics
, vol.53
, pp. 55-61
-
-
Körkkö, J.1
Ritvaniemi, P.2
Haataja, L.3
Kääriänen, H.4
Kivirikko, K.I.5
Prockop, D.J.6
Ala-Kokko, L.7
-
24
-
-
0025000243
-
Stickler's syndrome in the cleft palate clinic
-
Kronwith S.D., Quinn G., McDonald D.M., Cardonick E., Onyx P., LaRossa D.et al. Stickler's syndrome in the cleft palate clinic. Journal of Pediatric Ophthalmology and Strabismus. 27(5):1990;265-267.
-
(1990)
Journal of Pediatric Ophthalmology and Strabismus
, vol.27
, Issue.5
, pp. 265-267
-
-
Kronwith, S.D.1
Quinn, G.2
McDonald, D.M.3
Cardonick, E.4
Onyx, P.5
LaRossa, D.6
-
25
-
-
0030446945
-
Prophylactic laser photocoagulation in Stickler syndrome
-
Leiba H., Oliver M., Pollack A. Prophylactic laser photocoagulation in Stickler syndrome. Eye. 10:1996;701-708.
-
(1996)
Eye
, vol.10
, pp. 701-708
-
-
Leiba, H.1
Oliver, M.2
Pollack, A.3
-
26
-
-
0026713074
-
The arthropathy of hereditary arthro-ophthalmopathy (Stickler syndrome)
-
Lewkonia R.M. The arthropathy of hereditary arthro-ophthalmopathy (Stickler syndrome). The Journal of Rheumatology. 19(8):1992;1271-1275.
-
(1992)
The Journal of Rheumatology
, vol.19
, Issue.8
, pp. 1271-1275
-
-
Lewkonia, R.M.1
-
32
-
-
0000495534
-
Ectodermal dysplasia: Report of kindred with ocular abnormalities and hearing defect
-
Marshall D. Ectodermal dysplasia. Report of kindred with ocular abnormalities and hearing defect American Journal of Ophthalmology. 45:1958;143-156.
-
(1958)
American Journal of Ophthalmology
, vol.45
, pp. 143-156
-
-
Marshall, D.1
-
34
-
-
0010284623
-
Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome
-
Noël S., Balériaux D., Telerman-Toppet N. Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome. Journal of Medical Genetics. 14(5):1992;401-406.
-
(1992)
Journal of Medical Genetics
, vol.14
, Issue.5
, pp. 401-406
-
-
Noël, S.1
Balériaux, D.2
Telerman-Toppet, N.3
-
36
-
-
0030967224
-
Airway management in children with craniofacial anomalies
-
Perkins J.A., Sie K.C., Milczuk H., Richardson M. Airway management in children with craniofacial anomalies. Cleft Palate-Craniofacial Journal. 34(2):1997;135-140.
-
(1997)
Cleft Palate-Craniofacial Journal
, vol.34
, Issue.2
, pp. 135-140
-
-
Perkins, J.A.1
Sie, K.C.2
Milczuk, H.3
Richardson, M.4
-
37
-
-
0019836350
-
Impact of communicative disorders on otolaryngologic care of patients with craniofacial anomalies
-
Peterson-Falzone S.J. Impact of communicative disorders on otolaryngologic care of patients with craniofacial anomalies. Otolaryngologic Clinics of North America. 14(4):1981;895-915.
-
(1981)
Otolaryngologic Clinics of North America
, vol.14
, Issue.4
, pp. 895-915
-
-
Peterson-Falzone, S.J.1
-
38
-
-
0016335052
-
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)
-
Popkin J.S., Polomeno R.C. Stickler's syndrome (hereditary progressive arthro-ophthalmopathy). Canadian Medical Association Journal. 111:1974;1071-1076.
-
(1974)
Canadian Medical Association Journal
, vol.111
, pp. 1071-1076
-
-
Popkin, J.S.1
Polomeno, R.C.2
-
39
-
-
0010281939
-
Heritable and developmental disorders of connective tissue and bone
-
D.J. McCarthy. Philadelphia: Lea and Febiger
-
Pyeritz R.E. Heritable and developmental disorders of connective tissue and bone. McCarthy D.J. Arthritis and allied conditions. A textbook of Rheumatology:1989;1343 Lea and Febiger, Philadelphia.
-
(1989)
Arthritis and Allied Conditions: A Textbook of Rheumatology
, pp. 1343
-
-
Pyeritz, R.E.1
-
40
-
-
0028606375
-
Hereditary arthro-ophthalmopathy (Stickler syndrome): A diagnosis to consider in familial premature osteoarthritis
-
Rai A., Wordsworth P., Coppock J.S., Zaphiropoulos G.C., Struthers G.R. Hereditary arthro-ophthalmopathy (Stickler syndrome). A diagnosis to consider in familial premature osteoarthritis British Journal of Rheumatology. 33:1994;1175-1180.
-
(1994)
British Journal of Rheumatology
, vol.33
, pp. 1175-1180
-
-
Rai, A.1
Wordsworth, P.2
Coppock, J.S.3
Zaphiropoulos, G.C.4
Struthers, G.R.5
-
41
-
-
0010255186
-
Clinique et transmission génétique des différentes formes de dégénérescences vitréo-rétiniennes
-
Ricci A. Clinique et transmission génétique des différentes formes de dégénérescences vitréo-rétiniennes. Ophthalmologica. 139:1960;338-343.
-
(1960)
Ophthalmologica
, vol.139
, pp. 338-343
-
-
Ricci, A.1
-
42
-
-
0010286115
-
Dégénérescence hyaloidéo-rétinienne de Wagner
-
Ricci A. Dégénérescence hyaloidéo-rétinienne de Wagner. Bull Soc Ophthalmol Fr. 9:1961;646-662.
-
(1961)
Bull Soc Ophthalmol Fr
, vol.9
, pp. 646-662
-
-
Ricci, A.1
-
43
-
-
0027181410
-
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
-
Ritvaniemi P., Hyland J., Ignatius J., Kivirikko K.J., Prockop D.J., Ala-Kokko L. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome. Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis Genomics. 17:1993;218-221.
-
(1993)
Genomics
, vol.17
, pp. 218-221
-
-
Ritvaniemi, P.1
Hyland, J.2
Ignatius, J.3
Kivirikko, K.J.4
Prockop, D.J.5
Ala-Kokko, L.6
-
46
-
-
0030995929
-
The Marshall Syndrome: Report of a new family and review of the literature
-
Shanske A.L., Bogdanow A., Shprintzen R.J., Marion R.W. The Marshall Syndrome. Report of a new family and review of the literature American Journal of Medical Genetics. 70(1):1997;52-57.
-
(1997)
American Journal of Medical Genetics
, vol.70
, Issue.1
, pp. 52-57
-
-
Shanske, A.L.1
Bogdanow, A.2
Shprintzen, R.J.3
Marion, R.W.4
-
47
-
-
0010264391
-
Craniofacial surgery: Pierre-Robin, micrognathia, and obstruction: The dependency of treatment on accurate diagnosis
-
Shprintzen, R.J. (1988). Craniofacial surgery: Pierre-Robin, micrognathia, and obstruction: The dependency of treatment on accurate diagnosis. International Anesthesiology Clinics, 26, 72-78.
-
(1988)
International Anesthesiology Clinics
, vol.26
, pp. 72-78
-
-
Shprintzen, R.J.1
-
48
-
-
0028589518
-
Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL2A1
-
Snead M.P., Payne S.J., Barton D.E., Yates J.R.W., Al-Imara L., Pope F.M., Scott J.D. Stickler syndrome. Correlation between vitreoretinal phenotypes and linkage to COL2A1 Eye. 8:1994;609-614.
-
(1994)
Eye
, vol.8
, pp. 609-614
-
-
Snead, M.P.1
Payne, S.J.2
Barton, D.E.3
Yates, J.R.W.4
Al-Imara, L.5
Pope, F.M.6
Scott, J.D.7
-
49
-
-
0001713439
-
Hereditary progressive arthro-ophthalmopathy
-
Stickler G.B., Belau P.G., Farrell F.J., Jones J.D., Pugh D.G., Steinberg A.G., Ward L.E. Hereditary progressive arthro-ophthalmopathy. Mayo Clinic Proceedings. 40(6):1965;433-455.
-
(1965)
Mayo Clinic Proceedings
, vol.40
, Issue.6
, pp. 433-455
-
-
Stickler, G.B.1
Belau, P.G.2
Farrell, F.J.3
Jones, J.D.4
Pugh, D.G.5
Steinberg, A.G.6
Ward, L.E.7
-
50
-
-
0000838088
-
Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case
-
Stickler G.B., Pugh D.G. Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings. 42:1967;495-500.
-
(1967)
Mayo Clinic Proceedings
, vol.42
, pp. 495-500
-
-
Stickler, G.B.1
Pugh, D.G.2
-
52
-
-
0026320364
-
Genetic and clinical heterogeneity of Stickler syndrome
-
Vintiner G.M., Temple I.K., Middleton-Price H.R., Baraitser M., Malcolm S. Genetic and clinical heterogeneity of Stickler syndrome. American Journal of Medical Genetics. 41:1991;44-48.
-
(1991)
American Journal of Medical Genetics
, vol.41
, pp. 44-48
-
-
Vintiner, G.M.1
Temple, I.K.2
Middleton-Price, H.R.3
Baraitser, M.4
Malcolm, S.5
-
53
-
-
0000099261
-
Ein bisher unbeknantes Erbleiden des Auges (degeneratio hyaloieo-retinalis hereditaria), beobachtet im Kanton, Zurich
-
Wagner H. Ein bisher unbeknantes Erbleiden des Auges (degeneratio hyaloieo-retinalis hereditaria), beobachtet im Kanton, Zurich. Klin, Mbl. Augenheilk. 100:1938;840-857.
-
(1938)
Klin, Mbl. Augenheilk
, vol.100
, pp. 840-857
-
-
Wagner, H.1
-
54
-
-
0029850569
-
Retinal detachment in identical twins with Stickler syndrome type I
-
Watanabe Y., Ueda M., Adachi-Usami E. Retinal detachment in identical twins with Stickler syndrome type I. British Journal of Ophthalmology. 80(11):1996;976-981.
-
(1996)
British Journal of Ophthalmology
, vol.80
, Issue.11
, pp. 976-981
-
-
Watanabe, Y.1
Ueda, M.2
Adachi-Usami, E.3
-
55
-
-
0020361579
-
Ocular and systemic manifestations of Stickler's syndrome: A preliminary report
-
Weingeist T.A., Hermsen V., Hanson J.W., Bumsted R.M., Weinstein S.L., Olin W.H. Ocular and systemic manifestations of Stickler's syndrome. A preliminary report Birth Defects: Original Article Series. 18(6):1982;539-560.
-
(1982)
Birth Defects: Original Article Series
, vol.18
, Issue.6
, pp. 539-560
-
-
Weingeist, T.A.1
Hermsen, V.2
Hanson, J.W.3
Bumsted, R.M.4
Weinstein, S.L.5
Olin, W.H.6
-
57
-
-
0029665141
-
A (-2)-to-G transition at the 3 prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred
-
Williams C.J., Ganguly A., Considine E., McCarron S., Prockop D.J., Walsh-Vockley C., Michels V.V. A (-2)-to-G transition at the 3 prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. American Journal of Medical Genetics. 63:1996;461-467.
-
(1996)
American Journal of Medical Genetics
, vol.63
, pp. 461-467
-
-
Williams, C.J.1
Ganguly, A.2
Considine, E.3
McCarron, S.4
Prockop, D.J.5
Walsh-Vockley, C.6
Michels, V.V.7
-
58
-
-
0029850054
-
Long-term follow-up of ocular findings in children with Stickler's syndrome
-
Wilson M.C., McDonald-McGinn D.M., Quinn G.E., Markowitz G.D., LaRossa D., Pacuraru A.D.et al. Long-term follow-up of ocular findings in children with Stickler's syndrome. American Journal of Ophthalmology. 122(5):1996;727-728.
-
(1996)
American Journal of Ophthalmology
, vol.122
, Issue.5
, pp. 727-728
-
-
Wilson, M.C.1
McDonald-McGinn, D.M.2
Quinn, G.E.3
Markowitz, G.D.4
LaRossa, D.5
Pacuraru, A.D.6
-
59
-
-
0020973754
-
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: Further evidence for their identity
-
Winter R.M., Baraitser M., Laurence K.M., Donnai D., Hall D.M. The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes. Further evidence for their identity American Journal of Medical Genetics. 16:1983;189-199.
-
(1983)
American Journal of Medical Genetics
, vol.16
, pp. 189-199
-
-
Winter, R.M.1
Baraitser, M.2
Laurence, K.M.3
Donnai, D.4
Hall, D.M.5
-
60
-
-
0026586488
-
Variability of Stickler syndrome
-
Zlotogora J., Sagi M., Schuper A., Leiba H., Merin S. Variability of Stickler syndrome. American Journal of Medical Genetics. 42:1992;337-339.
-
(1992)
American Journal of Medical Genetics
, vol.42
, pp. 337-339
-
-
Zlotogora, J.1
Sagi, M.2
Schuper, A.3
Leiba, H.4
Merin, S.5
|