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221.
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Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function. [electronic resource] by
- Kwan, K M
- Pang, M K
- Zhou, S
- Cowan, S K
- Kong, R Y
- Pfordte, T
- Olsen, B R
- Sillence, D O
- Tam, P P
- Cheah, K S
Producer: 19970227
In:
The Journal of cell biology vol. 136
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222.
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A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. [electronic resource] by
- Rimoin, D L
- Rasmussen, I M
- Briggs, M D
- Roughley, P J
- Gruber, H E
- Warman, M L
- Olsen, B R
- Hsia, Y E
- Yuen, J
- Reinker, K
Producer: 19940412
In:
Human genetics vol. 93
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223.
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The exon/intron structure of the 3'-region of the pro alpha 2(I) collagen gene. [electronic resource] by
- Dickson, L A
- Ninomiya, Y
- Bernard, M P
- Pesciotta, D M
- Parsons, J
- Green, G
- Eikenberry, E F
- de Crombrugghe, B
- Vogeli, G
- Pastan, I
- Fietzek, P P
- Olsen, B R
Producer: 19811025
In:
The Journal of biological chemistry vol. 256
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224.
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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. [electronic resource] by
- Jüppner, H
- Schipani, E
- Bastepe, M
- Cole, D E
- Lawson, M L
- Mannstadt, M
- Hendy, G N
- Plotkin, H
- Koshiyama, H
- Koh, T
- Crawford, J D
- Olsen, B R
- Vikkula, M
Producer: 19981022
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 95
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225.
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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. [electronic resource] by
- Otto, F
- Thornell, A P
- Crompton, T
- Denzel, A
- Gilmour, K C
- Rosewell, I R
- Stamp, G W
- Beddington, R S
- Mundlos, S
- Olsen, B R
- Selby, P B
- Owen, M J
Producer: 19970710
In:
Cell vol. 89
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226.
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Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. [electronic resource] by
- Suzuki, O T
- Sertié, A L
- Der Kaloustian, V M
- Kok, F
- Carpenter, M
- Murray, J
- Czeizel, A E
- Kliemann, S E
- Rosemberg, S
- Monteiro, M
- Olsen, B R
- Passos-Bueno, M R
Producer: 20030123
In:
American journal of human genetics vol. 71
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227.
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Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. [electronic resource] by
- Ueki, Y
- Tiziani, V
- Santanna, C
- Fukai, N
- Maulik, C
- Garfinkle, J
- Ninomiya, C
- doAmaral, C
- Peters, H
- Habal, M
- Rhee-Morris, L
- Doss, J B
- Kreiborg, S
- Olsen, B R
- Reichenberger, E
Producer: 20010705
In:
Nature genetics vol. 28
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228.
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Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. [electronic resource] by
- Vikkula, M
- Boon, L M
- Carraway, K L
- Calvert, J T
- Diamonti, A J
- Goumnerov, B
- Pasyk, K A
- Marchuk, D A
- Warman, M L
- Cantley, L C
- Mulliken, J B
- Olsen, B R
Producer: 19970203
In:
Cell vol. 87
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229.
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Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. [electronic resource] by
- Goodman, F R
- Mundlos, S
- Muragaki, Y
- Donnai, D
- Giovannucci-Uzielli, M L
- Lapi, E
- Majewski, F
- McGaughran, J
- McKeown, C
- Reardon, W
- Upton, J
- Winter, R M
- Olsen, B R
- Scambler, P J
Producer: 19970805
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 94
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230.
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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. [electronic resource] by
- Mundlos, S
- Otto, F
- Mundlos, C
- Mulliken, J B
- Aylsworth, A S
- Albright, S
- Lindhout, D
- Cole, W G
- Henn, W
- Knoll, J H
- Owen, M J
- Mertelsmann, R
- Zabel, B U
- Olsen, B R
Producer: 19970710
In:
Cell vol. 89
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231.
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Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. [electronic resource] by
- Reichenberger, E
- Tiziani, V
- Watanabe, S
- Park, L
- Ueki, Y
- Santanna, C
- Baur, S T
- Shiang, R
- Grange, D K
- Beighton, P
- Gardner, J
- Hamersma, H
- Sellars, S
- Ramesar, R
- Lidral, A C
- Sommer, A
- Raposo do Amaral, C M
- Gorlin, R J
- Mulliken, J B
- Olsen, B R
Producer: 20010705
In:
American journal of human genetics vol. 68
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232.
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Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. [electronic resource] by
- Gong, Y
- Vikkula, M
- Boon, L
- Liu, J
- Beighton, P
- Ramesar, R
- Peltonen, L
- Somer, H
- Hirose, T
- Dallapiccola, B
- De Paepe, A
- Swoboda, W
- Zabel, B
- Superti-Furga, A
- Steinmann, B
- Brunner, H G
- Jans, A
- Boles, R G
- Adkins, W
- van den Boogaard, M J
- Olsen, B R
- Warman, M L
Producer: 19960801
In:
American journal of human genetics vol. 59
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233.
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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. [electronic resource] by
- Annunen, S
- Körkkö, J
- Czarny, M
- Warman, M L
- Brunner, H G
- Kääriäinen, H
- Mulliken, J B
- Tranebjaerg, L
- Brooks, D G
- Cox, G F
- Cruysberg, J R
- Curtis, M A
- Davenport, S L
- Friedrich, C A
- Kaitila, I
- Krawczynski, M R
- Latos-Bielenska, A
- Mukai, S
- Olsen, B R
- Shinno, N
- Somer, M
- Vikkula, M
- Zlotogora, J
- Prockop, D J
- Ala-Kokko, L
Producer: 20001002
In:
American journal of human genetics vol. 65
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234.
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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. [electronic resource] by
- Gong, Y
- Slee, R B
- Fukai, N
- Rawadi, G
- Roman-Roman, S
- Reginato, A M
- Wang, H
- Cundy, T
- Glorieux, F H
- Lev, D
- Zacharin, M
- Oexle, K
- Marcelino, J
- Suwairi, W
- Heeger, S
- Sabatakos, G
- Apte, S
- Adkins, W N
- Allgrove, J
- Arslan-Kirchner, M
- Batch, J A
- Beighton, P
- Black, G C
- Boles, R G
- Boon, L M
- Borrone, C
- Brunner, H G
- Carle, G F
- Dallapiccola, B
- De Paepe, A
- Floege, B
- Halfhide, M L
- Hall, B
- Hennekam, R C
- Hirose, T
- Jans, A
- Jüppner, H
- Kim, C A
- Keppler-Noreuil, K
- Kohlschuetter, A
- LaCombe, D
- Lambert, M
- Lemyre, E
- Letteboer, T
- Peltonen, L
- Ramesar, R S
- Romanengo, M
- Somer, H
- Steichen-Gersdorf, E
- Steinmann, B
- Sullivan, B
- Superti-Furga, A
- Swoboda, W
- van den Boogaard, M J
- Van Hul, W
- Vikkula, M
- Votruba, M
- Zabel, B
- Garcia, T
- Baron, R
- Olsen, B R
- Warman, M L
Producer: 20020108
In:
Cell vol. 107
Availability: No items available.
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