-
1
-
-
0029844409
-
Distal arthrogryposis type 1: Clinical analysis of a large kindred
-
Bamshad M, Bohnsack JF, Jorde LB, Carey JC: Distal arthrogryposis type 1: Clinical analysis of a large kindred. Am J Med Genet 65:282-285, 1996.
-
(1996)
Am J Med Genet
, vol.65
, pp. 282-285
-
-
Bamshad, M.1
Bohnsack, J.F.2
Jorde, L.B.3
Carey, J.C.4
-
2
-
-
0029807941
-
A revised and extended classification of the distal arthrogryposis
-
Bamshad M, Jorde LB, Carey JC: A revised and extended classification of the distal arthrogryposis. Am J Med Genet 65:277-281, 1996.
-
(1996)
Am J Med Genet
, vol.65
, pp. 277-281
-
-
Bamshad, M.1
Jorde, L.B.2
Carey, J.C.3
-
3
-
-
0027999259
-
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9
-
Bamshad M, Watkins WS, Zenger RK, et al: A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Am J Hum Genet 55:1153-1158, 1994.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1153-1158
-
-
Bamshad, M.1
Watkins, W.S.2
Zenger, R.K.3
-
4
-
-
0020042192
-
A new camptodactyly syndrome
-
Baraitser M: A new camptodactyly syndrome. J Med Genet 19:40-43, 1982.
-
(1982)
J Med Genet
, vol.19
, pp. 40-43
-
-
Baraitser, M.1
-
5
-
-
0033810189
-
The Gordon syndrome revisited
-
Basel D, Sobey G, Gardner J, Beighton P: The Gordon syndrome revisited. S Afr Med J 90:864-867, 2000.
-
(2000)
S Afr Med J
, vol.90
, pp. 864-867
-
-
Basel, D.1
Sobey, G.2
Gardner, J.3
Beighton, P.4
-
6
-
-
0015093747
-
Congenital contractural arachnodactyly: A heritable disorder of connective tissue
-
Beals RK, Hecht F: Congenital contractural arachnodactyly: A heritable disorder of connective tissue. J Bone Joint Surg 53A:987-993, 1971.
-
(1971)
J Bone Joint Surg
, vol.53 A
, pp. 987-993
-
-
Beals, R.K.1
Hecht, F.2
-
7
-
-
0035407650
-
Distal Arthrogryposis: A new type with distinct facial appearance and absent teeth
-
Beals RK, LaFranchi S: Distal Arthrogryposis: A new type with distinct facial appearance and absent teeth. J Med Genet 38:E22, 2001.
-
(2001)
J Med Genet
, vol.38
-
-
Beals, R.K.1
LaFranchi, S.2
-
8
-
-
7244260511
-
Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and restrictive limitations of ocular motility
-
Beals RK, Weleber RG: Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and restrictive limitations of ocular motility. Am J Med Genet 131A:67-70, 2004.
-
(2004)
Am J Med Genet
, vol.131 A
, pp. 67-70
-
-
Beals, R.K.1
Weleber, R.G.2
-
9
-
-
2742546849
-
Phenotypic heterogeneity of Freeman-Sheldon syndrome
-
Abstract
-
Carey JC, Dolcourt JL, Palumbos JC, Dolcourt J: Phenotypic heterogeneity of Freeman-Sheldon syndrome. Am J Med Genet Suppl 53:413, 1993. Abstract.
-
(1993)
Am J Med Genet
, Issue.SUPPL. 53
, pp. 413
-
-
Carey, J.C.1
Dolcourt, J.L.2
Palumbos, J.C.3
Dolcourt, J.4
-
11
-
-
84906418771
-
Cranio-carpotarsal dystrophy: Undescribed congenital malformation
-
Freeman EA, Sheldon JH: Cranio-carpotarsal dystrophy: Undescribed congenital malformation. Arch Dis Child 13:277-283, 1938.
-
(1938)
Arch Dis Child
, vol.13
, pp. 277-283
-
-
Freeman, E.A.1
Sheldon, J.H.2
-
12
-
-
2442514705
-
An autosomal dominant syndrome of multiple pterygium, ptosis and skeletal abnormalities
-
Vienna, Austria, Excerpta Medica. Abstract
-
th International Conference on Birth Defects, Vienna, Austria, Excerpta Medica 19, 1973. Abstract.
-
(1973)
th International Conference on Birth Defects
, vol.19
-
-
Frias, J.L.1
Holohan, J.R.2
Rosenbloom, A.L.3
-
13
-
-
0029029931
-
Distal arthrogryposis type IIB: Further clinical delineation and 54-year follow-up of an index case
-
Friedman BD, Heidenreich RA: Distal arthrogryposis type IIB: Further clinical delineation and 54-year follow-up of an index case. Am J Med Genet 58:125-127, 1995.
-
(1995)
Am J Med Genet
, vol.58
, pp. 125-127
-
-
Friedman, B.D.1
Heidenreich, R.A.2
-
15
-
-
0014575512
-
Camptodactyly, cleft palate, and clubfoot: A syndrome showing the autosomal-dominant pattern of inheritance
-
Gordon H, Davies D, Berman M: Camptodactyly, cleft palate, and clubfoot: A syndrome showing the autosomal-dominant pattern of inheritance. J Med Genet 6:266-274, 1969.
-
(1969)
J Med Genet
, vol.6
, pp. 266-274
-
-
Gordon, H.1
Davies, D.2
Berman, M.3
-
16
-
-
0018360756
-
Camptodactyly, cleft palate, and club foot (the Gordon syndrome): A report of a large pedigree
-
Halal F, Fraser FC: Camptodactyly, cleft palate, and club foot (the Gordon syndrome): A report of a large pedigree. J Med Genet 16:149-150, 1979.
-
(1979)
J Med Genet
, vol.16
, pp. 149-150
-
-
Halal, F.1
Fraser, F.C.2
-
17
-
-
0021948713
-
Genetic aspects of arthrogryposis
-
Hall JG: Genetic aspects of arthrogryposis. Clin Orthop 194:44-53, 1985.
-
(1985)
Clin Orthop
, vol.194
, pp. 44-53
-
-
Hall, J.G.1
-
18
-
-
0020041341
-
The distal arthrogryposis: Delineation of new entities: Review and nosologic discussion
-
Hall JG, Reed SD, Greene G: The distal arthrogryposis: Delineation of new entities: Review and nosologic discussion. Am J Med Genet 11:185-239, 1982.
-
(1982)
Am J Med Genet
, vol.11
, pp. 185-239
-
-
Hall, J.G.1
Reed, S.D.2
Greene, G.3
-
19
-
-
0019944955
-
Limb pterygium syndromes: A review and report of eleven patients
-
Hall JG, Reed SD, Rosenbaum KN, et al: Limb pterygium syndromes: A review and report of eleven patients. Am J Med Genet 12:377-409, 1982.
-
(1982)
Am J Med Genet
, vol.12
, pp. 377-409
-
-
Hall, J.G.1
Reed, S.D.2
Rosenbaum, K.N.3
-
20
-
-
0016415694
-
A new arthrogryposis syndrome with facial and limb anomalies
-
Hall JG, Truog WE, Plowman DL: A new arthrogryposis syndrome with facial and limb anomalies. Am J Dis Child 129:120-122, 1975.
-
(1975)
Am J Dis Child
, vol.129
, pp. 120-122
-
-
Hall, J.G.1
Truog, W.E.2
Plowman, D.L.3
-
21
-
-
0001921832
-
Inability to open the mouth fully: An autosomal dominant phenotype with facultative camptodactyly and short stature
-
Bergsma D (ed). New York, NY, National Foundation Press
-
Hecht F, Beals RK: Inability to Open the Mouth Fully: An Autosomal Dominant Phenotype with Facultative Camptodactyly and Short Stature. In Bergsma D (ed). Birth Defects: Original Article Series Part III. Limb Malformations. New York, NY, National Foundation Press 96-98, 1969.
-
(1969)
Birth Defects: Original Article Series Part III. Limb Malformations
, pp. 96-98
-
-
Hecht, F.1
Beals, R.K.2
-
22
-
-
0027217172
-
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: The Gordon syndrome
-
Ioan DM, Belengeanu V, Maximilian C, Fryns JP: Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: The Gordon syndrome. Clin Genet 43:300-302, 1993.
-
(1993)
Clin Genet
, vol.43
, pp. 300-302
-
-
Ioan, D.M.1
Belengeanu, V.2
Maximilian, C.3
Fryns, J.P.4
-
23
-
-
0026802923
-
Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon Syndrome
-
Jones R, Dolcourt JL: Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon Syndrome. Anesthesiology 77:599-600, 1992.
-
(1992)
Anesthesiology
, vol.77
, pp. 599-600
-
-
Jones, R.1
Dolcourt, J.L.2
-
24
-
-
0038078355
-
Surgical management of the hand in Freeman-Sheldon syndrome
-
Kalliainen LK, Drake DB, Edgerton MT, Grzeskiewicz JL, Morgan RF: Surgical management of the hand in Freeman-Sheldon syndrome. Ann Plast Surg 50:456-462, 2003.
-
(2003)
Ann Plast Surg
, vol.50
, pp. 456-462
-
-
Kalliainen, L.K.1
Drake, D.B.2
Edgerton, M.T.3
Grzeskiewicz, J.L.4
Morgan, R.F.5
-
25
-
-
0020057575
-
Familial arthrogryposis with distal involvement of the limbs
-
Kasai T, Oki T, Osuga T, Nogami H: Familial arthrogryposis with distal involvement of the limbs. Clin Orthop 166:182-184, 1982.
-
(1982)
Clin Orthop
, vol.166
, pp. 182-184
-
-
Kasai, T.1
Oki, T.2
Osuga, T.3
Nogami, H.4
-
26
-
-
0021922929
-
An unusual distal arthrogryposis
-
Kawira EL, Bender HA: An unusual distal arthrogryposis. Am J Med Genet 20:425-429, 1985.
-
(1985)
Am J Med Genet
, vol.20
, pp. 425-429
-
-
Kawira, E.L.1
Bender, H.A.2
-
27
-
-
0028929127
-
Dominant distal arthrogryposis in a Maori family with marked variability of expression
-
Klemp P, Hall JG: Dominant distal arthrogryposis in a Maori family with marked variability of expression. Am J Med Genet 55:414-419, 1995.
-
(1995)
Am J Med Genet
, vol.55
, pp. 414-419
-
-
Klemp, P.1
Hall, J.G.2
-
28
-
-
0032568081
-
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
-
Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M: Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet 76:93-98, 1998.
-
(1998)
Am J Med Genet
, vol.76
, pp. 93-98
-
-
Krakowiak, P.A.1
Bohnsack, J.F.2
Carey, J.C.3
Bamshad, M.4
-
29
-
-
0015297364
-
Arthrogryposis multiplex congentia and the Turner phenotype
-
Krieger I, Espiritu CE: Arthrogryposis multiplex congentia and the Turner phenotype. Am J Dis Child 123:141-144, 1972.
-
(1972)
Am J Dis Child
, vol.123
, pp. 141-144
-
-
Krieger, I.1
Espiritu, C.E.2
-
30
-
-
0025866808
-
A new form of autosomal dominant arthogryposis
-
Lai MM, Tettenborn MA, Hall JG, Smith LJ, Berry AC: A new form of autosomal dominant arthogryposis. J Med Genet 28:701-703, 1991.
-
(1991)
J Med Genet
, vol.28
, pp. 701-703
-
-
Lai, M.M.1
Tettenborn, M.A.2
Hall, J.G.3
Smith, L.J.4
Berry, A.C.5
-
31
-
-
0034012567
-
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
-
Lev D, Yanoov M, Weintraub S, Lerman-Sagie T: Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. J Med Genet 37:231-233, 2000.
-
(2000)
J Med Genet
, vol.37
, pp. 231-233
-
-
Lev, D.1
Yanoov, M.2
Weintraub, S.3
Lerman-Sagie, T.4
-
33
-
-
0023840016
-
An autosomal dominant multiple pterygium syndrome
-
McKeown CME, Harris R: An autosomal dominant multiple pterygium syndrome. J Med Genet 25:96-103, 1988.
-
(1988)
J Med Genet
, vol.25
, pp. 96-103
-
-
McKeown, C.M.E.1
Harris, R.2
-
34
-
-
0021792083
-
Congenital contractural arachnodactyly: Report of four additional families and review of the literature
-
Ramos Arroyo MA, Weaver DD, Beals RK: Congenital contractural arachnodactyly: Report of four additional families and review of the literature. Clin Genet 27:570-581, 1985.
-
(1985)
Clin Genet
, vol.27
, pp. 570-581
-
-
Ramos Arroyo, M.A.1
Weaver, D.D.2
Beals, R.K.3
-
35
-
-
0022519301
-
Distal arthrogryposis type II: A family with varying congenital abnormalities
-
Reiss JA, Sheffield LJ: Distal arthrogryposis type II: A family with varying congenital abnormalities. Am J Med Genet 24:255-267, 1986.
-
(1986)
Am J Med Genet
, vol.24
, pp. 255-267
-
-
Reiss, J.A.1
Sheffield, L.J.2
-
36
-
-
0017290671
-
Freeman-Sheldon ("whistling face") syndrome
-
Rinsky LA, Bleck EE: Freeman-Sheldon ("whistling face") syndrome. J Bone Joint Surg 58A:148-150, 1976.
-
(1976)
J Bone Joint Surg
, vol.58 A
, pp. 148-150
-
-
Rinsky, L.A.1
Bleck, E.E.2
-
37
-
-
0019520089
-
The Gordon syndrome: Autosomal dominant cleft palate, camptodactyly, and club feet
-
Robinow M, Johnson GF: The Gordon syndrome: Autosomal dominant cleft palate, camptodactyly, and club feet. Am J Med Genet 9:139-146, 1981.
-
(1981)
Am J Med Genet
, vol.9
, pp. 139-146
-
-
Robinow, M.1
Johnson, G.F.2
-
38
-
-
0015384220
-
Dominantly inherited digito-talar dysmorphism
-
Sallis JG, Beighton P: Dominantly inherited digito-talar dysmorphism. J Bone Joint Surg 54B:509-515, 1972.
-
(1972)
J Bone Joint Surg
, vol.54 B
, pp. 509-515
-
-
Sallis, J.G.1
Beighton, P.2
-
39
-
-
0027453274
-
Arthrogryposis, ophthalmoplegia, and retinopathy: Confirmation of a new type of arthrogryposis
-
Schrander-Stumpel CT, Howeler CJ, Reekers AD, et al: Arthrogryposis, ophthalmoplegia, and retinopathy: Confirmation of a new type of arthrogryposis. J Med Genet 30:78-80, 1993.
-
(1993)
J Med Genet
, vol.30
, pp. 78-80
-
-
Schrander-Stumpel, C.T.1
Howeler, C.J.2
Reekers, A.D.3
-
40
-
-
0014973154
-
Familial hand abnormality and sensorineural deafness: A new syndrome
-
Stewart JM, Bergstrom L: Familial hand abnormality and sensorineural deafness: A new syndrome. J Pediatr 78:102-110, 1971.
-
(1971)
J Pediatr
, vol.78
, pp. 102-110
-
-
Stewart, J.M.1
Bergstrom, L.2
-
41
-
-
0037369803
-
Mutations in genes encoding fast-twitch contractile porteins cause distal arthrogryposis syndromes
-
Sung SS, Brassington AM, Grannatt K, et al: Mutations in genes encoding fast-twitch contractile porteins cause distal arthrogryposis syndromes. Am J Hum Genet 72:681-690, 2003.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 681-690
-
-
Sung, S.S.1
Brassington, A.M.2
Grannatt, K.3
-
42
-
-
0038389782
-
Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B
-
Sung SS, Brassington AM, Krakowiak PA, et al: Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B. Am J Hum Genet 73:212-214, 2003.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 212-214
-
-
Sung, S.S.1
Brassington, A.M.2
Krakowiak, P.A.3
-
43
-
-
0026510275
-
Genetic linkage of the Marfan syndrome, ectopia lentis and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5: The International Marfan Syndrome Collaborative Study
-
Tsipouras P, Del Mastro R, Sarfarazi M, et al: Genetic linkage of the Marfan syndrome, ectopia lentis and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5: The International Marfan Syndrome Collaborative Study. N Engl J Med 326:905-909, 1992.
-
(1992)
N Engl J Med
, vol.326
, pp. 905-909
-
-
Tsipouras, P.1
Del Mastro, R.2
Sarfarazi, M.3
-
44
-
-
0016297288
-
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome
-
Mabry CC, Barnett IS, Hutcheson MW, Sorensen HW: Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. J Pediatr 85:503-508, 1974.
-
(1974)
J Pediatr
, vol.85
, pp. 503-508
-
-
Mabry, C.C.1
Barnett, I.S.2
Hutcheson, M.W.3
Sorensen, H.W.4
-
45
-
-
0028092853
-
Congenital contractural arachnodactyly (Beals syndrome)
-
Viljoen D: Congenital contractural arachnodactyly (Beals syndrome). J Med Genet 31:640-643, 1994.
-
(1994)
J Med Genet
, vol.31
, pp. 640-643
-
-
Viljoen, D.1
|