-
2
-
-
0021367917
-
The Marshall and Stickler syndromes: Objective rejection of lumping
-
10.1136/jmg.21.1.34 1:STN:280:DyaL2c7hsVOruw%3D%3D 6694183
-
S Ayme M Preus 1984 The Marshall and Stickler syndromes: objective rejection of lumping J Med Genet 21 34 38 10.1136/jmg.21.1.34 1:STN:280:DyaL2c7hsVOruw%3D%3D 6694183
-
(1984)
J Med Genet
, vol.21
, pp. 34-38
-
-
Ayme, S.1
Preus, M.2
-
3
-
-
0242605083
-
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dyplasia with mild myopathy
-
10.1073/pnas.97.3.1212
-
CG Bonnemann GF Cox F Shapiro JJ Wu CA Feener, et al. 1999 A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dyplasia with mild myopathy Proc Natl Acad Sci USA 97 1212 1217 10.1073/pnas.97.3.1212
-
(1999)
Proc Natl Acad Sci USA
, vol.97
, pp. 1212-1217
-
-
Bonnemann, C.G.1
Cox, G.F.2
Shapiro, F.3
Wu, J.J.4
Feener, C.A.5
-
5
-
-
0034762339
-
A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity
-
DOI 10.1086/324023
-
M Czarny-Ratajczak J Lohiniva P Rogala K Kozlowski M Perälä, et al. 2001 A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity Am J Hum Genet 69 969 980 10.1086/324023 1:CAS:528:DC%2BD3MXotlGit7Y%3D 11565064 (Pubitemid 33015812)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.5
, pp. 969-980
-
-
Czarny-Ratajczak, M.1
Lohiniva, J.2
Rogala, P.3
Kozlowski, K.4
Perala, M.5
Carter, L.6
Spector, T.D.7
Kolodziej, L.8
Seppanen, U.9
Glazar, R.10
Krolewski, J.11
Latos-Bielenska, A.12
Ala-Kokko, L.13
-
7
-
-
0034687106
-
Cloning and expression of type II collagen mRNA: Evaluation as a candidate for canine oculoskeletal dysplasia
-
10.1016/S0378-1119(00)00324-3 1:CAS:528:DC%2BD3cXmvFOruro%3D 11024291
-
F Du GM Acland J Ray 2000 Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculoskeletal dysplasia Gene 255 307 316 10.1016/S0378-1119(00)00324-3 1:CAS:528:DC%2BD3cXmvFOruro%3D 11024291
-
(2000)
Gene
, vol.255
, pp. 307-316
-
-
Du, F.1
Acland, G.M.2
Ray, J.3
-
8
-
-
0036808174
-
Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)
-
DOI 10.1002/ajmg.10554
-
J Fiedler J Stove F Heber RE Brenner 2002 Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2) Am J Med Genet 112 144 153 10.1002/ajmg.10554 1:STN:280:DC%2BD38votFOrtw%3D%3D 12244547 (Pubitemid 35332178)
-
(2002)
American Journal of Medical Genetics
, vol.112
, Issue.2
, pp. 144-153
-
-
Fiedler, J.1
Stove, J.2
Heber, F.3
Brenner, R.E.4
-
9
-
-
33749430640
-
Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome
-
DOI 10.1016/j.ygeno.2006.05.013, PII S0888754306001716
-
O Goldstein B Zangerl S Pearce-Kelling DJ Sidjanin JW Kijas, et al. 2006 Linkage disequilibrium mapping in the domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome Genomics 88 541 550 10.1016/j.ygeno.2006.05.013 1:CAS:528:DC%2BD28XhtVOgtbvJ 16859891 (Pubitemid 44512073)
-
(2006)
Genomics
, vol.88
, Issue.5
, pp. 541-550
-
-
Goldstein, O.1
Zangerl, B.2
Pearce-Kelling, S.3
Sidjanin, D.J.4
Kijas, J.W.5
Felix, J.6
Acland, G.M.7
Aguirre, G.D.8
-
10
-
-
0033358606
-
Identification of novel pro-α2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia
-
DOI 10.1086/302440
-
P Holden EG Canty GR Mortier B Zabel J Spranger, et al. 1999 Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal form of multiple epiphyseal dyplasia Am J Hum Genet 65 31 38 10.1086/302440 1:CAS:528:DyaK1MXltlOgu7w%3D 10364514 (Pubitemid 30470446)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.1
, pp. 31-38
-
-
Holden, P.1
Canty, E.G.2
Mortier, G.R.3
Zabel, B.4
Spranger, J.5
Carr, A.6
Grant, M.E.7
Loughlin, J.A.8
Briggs, M.D.9
-
11
-
-
33645389960
-
Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32
-
DOI 10.1167/iovs.05-0861
-
AV Kukekova J Nelson RW Kuchtey JK Lowe JL Johnson, et al. 2006 Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32 Invest Ophthamol Vis Sci 47 1210 1215 10.1167/iovs.05-0861 (Pubitemid 46768358)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.3
, pp. 1210-1215
-
-
Kukekova, A.V.1
Nelson, J.2
Kuchtey, R.W.3
Lowe, J.K.4
Johnson, J.L.5
Ostrander, E.A.6
Aguirre, G.D.7
Acland, G.M.8
-
12
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
10.1073/pnas.81.11.3443 1:STN:280:DyaL2c3itF2ktw%3D%3D 6587361
-
GM Lathrop JM Lalouel C Julier J Ott 1984 Strategies for multilocus linkage analysis in humans Proc Natl Acad Sci USA 81 3443 3446 10.1073/pnas.81.11.3443 1:STN:280:DyaL2c3itF2ktw%3D%3D 6587361
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
13
-
-
0034736991
-
Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia
-
DOI 10.1002/(SICI)1096-8628(20000131) 90:3<216::AID-AJMG6>3.0.CO;2- 1
-
J Lohiniva P Paassilta U Seppanen O Vierimaa S Kivirikko, et al. 2000 Splicing mutations in the COL3 domain of collagen IX causes multiple epiphyseal dysplasia Am J Med Genet 90 216 222 10.1002/(SICI)1096-8628(20000131)90: 3<216::AID-AJMG6>3.0.CO;2-1 1:STN:280:DC%2BD3c7kt1WhtA%3D%3D 10678658 (Pubitemid 30051868)
-
(2000)
American Journal of Medical Genetics
, vol.90
, Issue.3
, pp. 216-222
-
-
Lohiniva, J.1
Paassilta, P.2
Seppanen, U.3
Vierimaa, O.4
Kivirikko, S.5
Ala-Kokko, L.6
-
14
-
-
0028343233
-
Automated construction of genetic linkage maps using an expert system (MultiMap): A human genome linkage map
-
DOI 10.1038/ng0494-384
-
TC Matise M Perlin A Chakravarti 1994 Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map Nat Genet 6 384 390 10.1038/ng0494-384 1:CAS:528:DyaK2cXjtFKrt7c%3D 8054979 (Pubitemid 24190023)
-
(1994)
Nature Genetics
, vol.6
, Issue.4
, pp. 384-390
-
-
Matise, T.C.1
Perlin, M.2
Chakravarti, A.3
-
15
-
-
0021859326
-
The ocular findings in Kniest dysplasia
-
1:STN:280:DyaL2M3kvVOitA%3D%3D 4014370
-
IH Maumenee EI Traboulsi 1985 The ocular findings in Kniest dysplasia Am J Ophthalmol 100 155 160 1:STN:280:DyaL2M3kvVOitA%3D%3D 4014370
-
(1985)
Am J Ophthalmol
, vol.100
, pp. 155-160
-
-
Maumenee, I.H.1
Traboulsi, E.I.2
-
16
-
-
0020858991
-
Short-limbed dwarfism and ocular defects in the samoyed dog
-
1:STN:280:DC%2BD383mt1GisA%3D%3D 12002589
-
VN Meyers PF Jezyk GD Aguirre DF Patterson 1983 Short-limbed dwarfism and ocular defects in the samoyed dog J Am Vet Med Assoc 183 975 979 1:STN:280:DC%2BD383mt1GisA%3D%3D 12002589
-
(1983)
J Am Vet Med Assoc
, vol.183
, pp. 975-979
-
-
Meyers, V.N.1
Jezyk, P.F.2
Aguirre, G.D.3
Patterson, D.F.4
-
17
-
-
12944257302
-
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation [4]
-
DOI 10.1002/ajmg.a.30481
-
M Nakashima S Ikegawa H Ohashi M Kimizuka G Nishimura 2005 Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation Am J Med Genet 133A 106 107 10.1002/ajmg.a.30481 15633184 (Pubitemid 40175578)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.1
, pp. 106-107
-
-
Nakashima, E.1
Ikegawa, S.2
Ohashi, H.3
Kimizuka, M.4
Nishimura, G.5
-
18
-
-
11844271478
-
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia
-
DOI 10.1002/ajmg.a.30411
-
M Nakashima H Kitoh K Maeda N Haga R Kosaki, et al. 2005 Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia Am J Med Genet 132A 181 184 10.1002/ajmg.a.30411 15551337 (Pubitemid 40093328)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.2
, pp. 181-184
-
-
Nakashima, E.1
Kitoh, H.2
Maeda, K.3
Haga, N.4
Kosaki, R.5
Mabuchi, A.6
Nishimura, G.7
Ohashi, H.8
Ikegawa, S.9
-
19
-
-
0033361919
-
COL9A3: A third locus for multiple epiphyseal dysplasia
-
DOI 10.1086/302328
-
P Paasilta J Lohiniva S Annunem J Bonaventure M Le-Merrer, et al. 1999 COL9A3: a third locus for multiple epiphyseal dysplasia Am J Hum Genet 64 1036 1044 10.1086/302328 (Pubitemid 30463034)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.4
, pp. 1036-1044
-
-
Paassilta, P.1
Lohiniva, J.2
Annunen, S.3
Bonaventure, J.4
Le Merrer, M.5
Pai, L.6
Ala-Kokko, L.7
-
20
-
-
0037045417
-
Cloning and characterization of opticin cDNA: Evaluation as a candidate for canine oculo-skeletal dysplasia
-
DOI 10.1016/S0378-1119(01)00842-3, PII S0378111901008423
-
B Pellegrini GM Acland J Ray 2002 Cloning and characterization of opticin cDNA: evaluation as a candidate for canine oculoskeletal dysplasia Gene 282 121 131 10.1016/S0378-1119(01)00842-3 1:CAS:528:DC%2BD38XnvFSgtA%3D%3D 11814684 (Pubitemid 34117568)
-
(2002)
Gene
, vol.282
, Issue.1-2
, pp. 121-131
-
-
Pellegrini, B.1
Acland, G.M.2
Ray, J.3
-
21
-
-
0032922721
-
Clinical and molecular genetics of Stickler syndrome
-
1:STN:280:DyaK1M3otVantw%3D%3D 10353778
-
MP Snead JR Yates 1999 Clinical and molecular genetics of Stickler syndrome J Med Genet 36 353 359 1:STN:280:DyaK1M3otVantw%3D%3D 10353778
-
(1999)
J Med Genet
, vol.36
, pp. 353-359
-
-
Snead, M.P.1
Yates, J.R.2
-
22
-
-
84898843988
-
Multiple epiphyseal dysplasia
-
J.W. Spranger P.W. Brill A.K. Poznanski (eds). Oxford University Press New York
-
Spranger JW, Brill PW, Poznanski AK (2002) Multiple epiphyseal dysplasia. In: Spranger JW, Brill PW, Poznanski AK (eds) Bone dysplasia: an atlas of genetic disorders of skeletal development. Oxford University Press, New York, pp 141-146
-
(2002)
Bone Dysplasia: An Atlas of Genetic Disorders of Skeletal Development
, pp. 141-146
-
-
Spranger, J.W.1
Brill, P.W.2
Poznanski, A.K.3
-
24
-
-
33746478034
-
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)
-
DOI 10.1007/s10067-005-0034-z
-
M Takahashi Y Matsui T Goto G Nishimura S Ikegawa, et al. 2006 Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with the COL9A2 mutation (EDM2) Clin Rheumatol 25 591 595 10.1007/s10067-005- 0034-z 16440132 (Pubitemid 44137651)
-
(2006)
Clinical Rheumatology
, vol.25
, Issue.4
, pp. 591-595
-
-
Takahashi, M.1
Matsui, Y.2
Goto, T.3
Nishimura, G.4
Ikegawa, S.5
Ohashi, H.6
Yasui, N.7
-
25
-
-
33748667074
-
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
-
DOI 10.1086/506478
-
G Van Camp RL Snoeckx N Hilgert J Ende H Fukuoka, et al. 2006 A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene Am J Hum Genet 79 449 457 10.1086/506478 16909383 (Pubitemid 44384254)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.3
, pp. 449-457
-
-
Van Camp, G.1
Snoeckx, R.L.2
Hilgert, N.3
Van Den Ende, J.4
Fukuoka, H.5
Wagatsuma, M.6
Suzuki, H.7
Smets, R.M.E.8
Vanhoenacker, F.9
Declau, F.10
Van De Heyning, P.11
Usami, S.-I.12
|