-
1
-
-
0023257443
-
Dyssegmental dysplasia: Clinical, radiographic, and morphologic evidence of heterogeneity
-
Aleck KA, Grix A, Clericuzio C, Kaplan P, Adomian GE, Lachman R, Rimoin DL (1987): Dyssegmental dysplasia: Clinical, radiographic, and morphologic evidence of heterogeneity. Am J Med Genet 27: 295-312.
-
(1987)
Am J Med Genet
, vol.27
, pp. 295-312
-
-
Aleck, K.A.1
Grix, A.2
Clericuzio, C.3
Kaplan, P.4
Adomian, G.E.5
Lachman, R.6
Rimoin, D.L.7
-
2
-
-
0016832914
-
Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria
-
Brill PW, Kim HJ, Beratis NG, Hirschhorn K (1975): Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria. Am J Roentgenol 125:731-738.
-
(1975)
Am J Roentgenol
, vol.125
, pp. 731-738
-
-
Brill, P.W.1
Kim, H.J.2
Beratis, N.G.3
Hirschhorn, K.4
-
4
-
-
0018972741
-
Kniest dysplasia: Neonatal death with necropsy
-
Chen H, Yang SS, Gonzalez E (1980): Kniest dysplasia: Neonatal death with necropsy. Am J Med Genet 6:171-178.
-
(1980)
Am J Med Genet
, vol.6
, pp. 171-178
-
-
Chen, H.1
Yang, S.S.2
Gonzalez, E.3
-
5
-
-
0017160713
-
Chondrodysplastic dwarfism, cleft, palate and micrognathia in a neonate, a new syndrome?
-
Dinno ND, Shearer L, Weisskopf B (1976): Chondrodysplastic dwarfism, cleft, palate and micrognathia in a neonate, a new syndrome? Eur J Pediatr 123:39-42.
-
(1976)
Eur J Pediatr
, vol.123
, pp. 39-42
-
-
Dinno, N.D.1
Shearer, L.2
Weisskopf, B.3
-
6
-
-
0019946512
-
Oto-spondylo-megaepiphyseal dysplasia (OSMED)
-
Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymüller E (1982): Oto-spondylo-megaepiphyseal dysplasia (OSMED). Helv Pediatr Acta 37:361-380.
-
(1982)
Helv Pediatr Acta
, vol.37
, pp. 361-380
-
-
Giedion, A.1
Brandner, M.2
Lecannellier, J.3
Muhar, U.4
Prader, A.5
Sulzer, J.6
Zweymüller, E.7
-
7
-
-
0023080947
-
Pathologic changes of osteochondrodysplasia in infancy
-
Sommers S (ed): New York: Appleton-Century-Crofts
-
Gilbert EF, Yang SS, Langer L, Opitz JM, Roskamp JO, Heidelberger KP (1987): Pathologic changes of osteochondrodysplasia in infancy. In Sommers S (ed): "Pathology Annual." New York: Appleton-Century-Crofts, pp 281-345.
-
(1987)
Pathology Annual
, pp. 281-345
-
-
Gilbert, E.F.1
Yang, S.S.2
Langer, L.3
Opitz, J.M.4
Roskamp, J.O.5
Heidelberger, K.P.6
-
8
-
-
0021737064
-
Dyssegmental dwarfism: A histologic study of osseous and nonosseous cartilage
-
Greco MA, Alvarez SP, Genieser NB, Becker MH (1984): Dyssegmental dwarfism: a histologic study of osseous and nonosseous cartilage. Hum Pathol 15:490-493.
-
(1984)
Hum Pathol
, vol.15
, pp. 490-493
-
-
Greco, M.A.1
Alvarez, S.P.2
Genieser, N.B.3
Becker, M.H.4
-
9
-
-
0018247596
-
Dyssegmental dwarfism: A lethal anisospondylic camptomicromelic dwarfism
-
Gruhn JG, Gorlin RJ, Langer LO Jr (1978): dyssegmental dwarfism: A lethal anisospondylic camptomicromelic dwarfism. Am J Dis Child 132:382-386.
-
(1978)
Am J Dis Child
, vol.132
, pp. 382-386
-
-
Gruhn, J.G.1
Gorlin, R.J.2
Langer Jr., L.O.3
-
10
-
-
0018292184
-
Kniest Dysplasia: A histochemical study of the growth plate
-
Horton WA, Rimoin DL (1979): Kniest Dysplasia: A histochemical study of the growth plate. Pediatr Res 13:1266-1270.
-
(1979)
Pediatr Res
, vol.13
, pp. 1266-1270
-
-
Horton, W.A.1
Rimoin, D.L.2
-
11
-
-
0016257993
-
A bone dysplasia with deafnewss
-
Insley J, Astley R (1974): A bone dysplasia with deafnewss. Br J Radiol 47:244-251.
-
(1974)
Br J Radiol
, vol.47
, pp. 244-251
-
-
Insley, J.1
Astley, R.2
-
14
-
-
0028327727
-
The difficulty of prenatal diagnosis of Kniest's disease. Apropos of a case simulating congenital spondylo-epiphyseal dysplasia
-
Paris
-
Kerleroux J, Roux MS, Cottin X (1994): The difficulty of prenatal diagnosis of Kniest's disease. Apropos of a case simulating congenital spondylo-epiphyseal dysplasia. J Gynecol Obstet Biol Reprod (Paris) 23:69-74.
-
(1994)
J Gynecol Obstet Biol Reprod
, vol.23
, pp. 69-74
-
-
Kerleroux, J.1
Roux, M.S.2
Cottin, X.3
-
15
-
-
0016777351
-
Kniest syndrome with dominant inheritance and mucopolysacchariduria
-
Kim HJ, Beratis NG, Brill P, Raab E, Hirschhorn K, Matalon R (1975): Kniest syndrome with dominant inheritance and mucopolysacchariduria. Am J Hum Genet 27:755-764.
-
(1975)
Am J Hum Genet
, vol.27
, pp. 755-764
-
-
Kim, H.J.1
Beratis, N.G.2
Brill, P.3
Raab, E.4
Hirschhorn, K.5
Matalon, R.6
-
16
-
-
0016693913
-
The Kniest syndrome
-
Lachman RS, Rimoin DL, Hollister DW, Dorst JP, Siggers DC, McAlister W, Kaufman RL, Langer LO Jr (1975): The Kniest syndrome. Am J Roentgenol 123:805-814.
-
(1975)
Am J Roentgenol
, vol.123
, pp. 805-814
-
-
Lachman, R.S.1
Rimoin, D.L.2
Hollister, D.W.3
Dorst, J.P.4
Siggers, D.C.5
McAlister, W.6
Kaufman, R.L.7
Langer Jr., L.O.8
-
17
-
-
33749713385
-
-
Personal communication
-
Langer LO Jr: Personal communication, 1980.
-
(1980)
-
-
Langer Jr., L.O.1
-
18
-
-
0017075168
-
A severe infantile micromelic chondrodysplasia which resembles Kniest disease
-
Langer LO Jr, Gonzalez-Ramos M, Chen H, Espiritu CE, Courtney NW, Opitz JM (1976): A severe infantile micromelic chondrodysplasia which resembles Kniest disease. Eur J Pediatr 123:29-38.
-
(1976)
Eur J Pediatr
, vol.123
, pp. 29-38
-
-
Langer Jr., L.O.1
Gonzalez-Ramos, M.2
Chen, H.3
Espiritu, C.E.4
Courtney, N.W.5
Opitz, J.M.6
-
22
-
-
0028945785
-
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer
-
Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Ryre DR, Cohn DH (1995): A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer. Hum Mol Genet 4:285-288.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 285-288
-
-
Mortier, G.R.1
Wilkin, D.J.2
Wilcox, W.R.3
Rimoin, D.L.4
Lachman, R.S.5
Ryre, D.R.6
Cohn, D.H.7
-
23
-
-
0016422312
-
The chondrodystrophies
-
Rimoin DL (1975): The chondrodystrophies. Adv Hum Genet 5:1-118.
-
(1975)
Adv Hum Genet
, vol.5
, pp. 1-118
-
-
Rimoin, D.L.1
-
24
-
-
0016218287
-
Histologic studies in the chondrodystrophies
-
Bergsma D (ed): New York: Alan R. Liss for the National Foundation - March of Dimes. BD: OAS
-
Rimoin DL, Hollister DW, Lachman RS, Kaufman RL, McAlister WH, Rosenthal RE, Hughes GNF (1974): Histologic studies in the chondrodystrophies. In Bergsma D (ed): "Skeletal Dysplasia." New York: Alan R. Liss for the National Foundation - March of Dimes. BD: OAS X(12):274-295.
-
(1974)
Skeletal Dysplasia
, vol.10
, Issue.12
, pp. 274-295
-
-
Rimoin, D.L.1
Hollister, D.W.2
Lachman, R.S.3
Kaufman, R.L.4
McAlister, W.H.5
Rosenthal, R.E.6
Hughes, G.N.F.7
-
25
-
-
2842540010
-
Clinical, radiographic, histologic, and ultrastructural definition of the Kniest syndrome
-
Rimoin DL, Hollister DW, Siggers D, Silberberg R, Lachman R, McAlister W, Kaufman R, McKusick VA, Dorst J (1979): Clinical, radiographic, histologic, and ultrastructural definition of the Kniest syndrome. Pediatr Res 13:1266-1270.
-
(1979)
Pediatr Res
, vol.13
, pp. 1266-1270
-
-
Rimoin, D.L.1
Hollister, D.W.2
Siggers, D.3
Silberberg, R.4
Lachman, R.5
McAlister, W.6
Kaufman, R.7
McKusick, V.A.8
Dorst, J.9
-
26
-
-
0017290429
-
Chondro-osseous pathology in the chondrodystrophies
-
Rimoin DL, Silberberg R, Hollister DW (1976): Chondro-osseous pathology in the chondrodystrophies. Clin Orthop 114:137-152.
-
(1976)
Clin Orthop
, vol.114
, pp. 137-152
-
-
Rimoin, D.L.1
Silberberg, R.2
Hollister, D.W.3
-
27
-
-
0014118343
-
A childhood syndrome of bone dysplasia, retinal detachment, and deafness
-
Roaf R, Longmore JB, Forrester RM (1967): A childhood syndrome of bone dysplasia, retinal detachment, and deafness. Dev Med Child Neurol 9:464-473.
-
(1967)
Dev Med Child Neurol
, vol.9
, pp. 464-473
-
-
Roaf, R.1
Longmore, J.B.2
Forrester, R.M.3
-
28
-
-
2842514270
-
Nanisme chondrodystrophique et division palatine chez un nouveau-né
-
Paris
-
Rolland J-C, Laugier J, Grenier B, Desbuquois G (1972): Nanisme chondrodystrophique et division palatine chez un nouveau-né. Ann Pédiatr (Paris) 19:239-243.
-
(1972)
Ann Pédiatr
, vol.19
, pp. 239-243
-
-
Rolland, J.-C.1
Laugier, J.2
Grenier, B.3
Desbuquois, G.4
-
29
-
-
0016347778
-
The Kniest syndrome
-
Bergsma D (ed): New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS
-
Siggers DC, Rimoin DL, Dorst JP, Doty SB, Williams BR, Hollister DW, Silberberg R, Cranley RE, Kaufman RL, McKusick VA (1974): The Kniest syndrome. In Bergsma D (ed): "Skeletal Dysplasia." New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS X(9):193-208.
-
(1974)
Skeletal Dysplasia
, vol.10
, Issue.9
, pp. 193-208
-
-
Siggers, D.C.1
Rimoin, D.L.2
Dorst, J.P.3
Doty, S.B.4
Williams, B.R.5
Hollister, D.W.6
Silberberg, R.7
Cranley, R.E.8
Kaufman, R.L.9
McKusick, V.A.10
-
30
-
-
0016334039
-
Ultrastructure of cartilage in chondodystrophies
-
Bergsmas D (ed): New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS
-
Silberberg R (1974): Ultrastructure of cartilage in chondodystrophies. In Bergsmas D (ed): "Skeletal Dysplasia." New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS X(12): 306-313.
-
(1974)
Skeletal Dysplasia
, vol.10
, Issue.12
, pp. 306-313
-
-
Silberberg, R.1
-
31
-
-
0348127264
-
Discussion (Cincinnati case, Figs. 1-5)
-
Bergsma D (ed): New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS
-
Silverman FN (1969): Discussion (Cincinnati case, Figs. 1-5). In Bergsma D (ed): "Skeletal Dysplasia." New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS V(4):45-47.
-
(1969)
Skeletal Dysplasia
, vol.5
, Issue.4
, pp. 45-47
-
-
Silverman, F.N.1
-
32
-
-
0003931220
-
-
Philadelphia, Toronto: WB Saunders Co., spondyloepiphyseal dysplasia congenita, Kniest dysplasia
-
Spranger JW, Langer LO, Wiedemann H-R (1974): "Bone Dysplasias: An Atlas of Constitutional Disorders of Skeletal Development." Philadelphia, Toronto: WB Saunders Co., pp 95-101 (spondyloepiphyseal dysplasia congenita), pp 114-1192 (Kniest dysplasia).
-
(1974)
Bone Dysplasias: An Atlas of Constitutional Disorders of Skeletal Development
, pp. 95-101
-
-
Spranger, J.W.1
Langer, L.O.2
Wiedemann, H.-R.3
-
33
-
-
0016143744
-
Kniest disease
-
Bergsma D (ed): New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS
-
Spranger JW, Maroteaux P (1974): Kniest disease. In Bergsma D (ed): "Skeletal Dysplasia." New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS X(12):50-56.
-
(1974)
Skeletal Dysplasia
, vol.10
, Issue.12
, pp. 50-56
-
-
Spranger, J.W.1
Maroteaux, P.2
-
34
-
-
0028091479
-
Kniest dysplasia is caused by dominant collagen TT (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia
-
Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel R (1994): Kniest dysplasia is caused by dominant collagen TT (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. Pediatr Radiol 24:431-435.
-
(1994)
Pediatr Radiol
, vol.24
, pp. 431-435
-
-
Spranger, J.1
Menger, H.2
Mundlos, S.3
Winterpacht, A.4
Zabel, R.5
-
35
-
-
0028157152
-
The type II collagenopathies: A spectrum of chondrodysplasias
-
Spranger J, Winterpacht, Zabel R (1994): The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153: 56-65.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 56-65
-
-
Spranger, J.1
Winterpacht2
Zabel, R.3
-
36
-
-
0028212369
-
Non-collagenous preotein screening in the human chondrodysplasias: Link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin
-
Stanescu V, Do TP, Chaminade F, Maroteaux P, Stanescu R (1994): Non-collagenous preotein screening in the human chondrodysplasias: Link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. Am J Med Genet 51:22-28.
-
(1994)
Am J Med Genet
, vol.51
, pp. 22-28
-
-
Stanescu, V.1
Do, T.P.2
Chaminade, F.3
Maroteaux, P.4
Stanescu, R.5
-
37
-
-
0016747282
-
Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: Proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease
-
Stanescu V, Maroteaux P (1975): Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: Proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease. Pediatr Res 9:779-782.
-
(1975)
Pediatr Res
, vol.9
, pp. 779-782
-
-
Stanescu, V.1
Maroteaux, P.2
-
38
-
-
0017653999
-
Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplases
-
Stanescu V, Stanescu R, Maroteaux P (1977): Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplases. Arch Franç Pediatr 34:48.
-
(1977)
Arch Franç Pediatr
, vol.34
, pp. 48
-
-
Stanescu, V.1
Stanescu, R.2
Maroteaux, P.3
-
39
-
-
0003933193
-
-
Chicago, London: Yeark-Book Medical Publishers, Inc.
-
Taybi H, Lachman R (1990): "Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias." Chicago, London: Yeark-Book Medical Publishers, Inc., pp 774, 775, 813.
-
(1990)
Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias
, pp. 774
-
-
Taybi, H.1
Lachman, R.2
-
40
-
-
0028795980
-
An RNA-splicing mutation (G+5TVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita
-
Tiller GR, Weis MA, Polumbo PA, Gruber HR, Rimoin DL, Cohn DH, Ryre DR (1995): An RNA-splicing mutation (G+5TVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am J Hum Genet 56:388-395.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 388-395
-
-
Tiller, G.R.1
Weis, M.A.2
Polumbo, P.A.3
Gruber, H.R.4
Rimoin, D.L.5
Cohn, D.H.6
Ryre, D.R.7
-
41
-
-
0028033774
-
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia
-
Wilkin DJ, Rogaert R, Lachman RS, Rimoin DL, Ryre DR, Cohn DH (1994): A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Hum Mol Genet 3:1999-2003.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1999-2003
-
-
Wilkin, D.J.1
Rogaert, R.2
Lachman, R.S.3
Rimoin, D.L.4
Ryre, D.R.5
Cohn, D.H.6
-
42
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
-
Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel RU (1993): Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 3:323-326.
-
(1993)
Nat Genet
, vol.3
, pp. 323-326
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, R.U.6
|