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Author/Creator Superti-Furga, A

2. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Issue 12 (18th December 2003)

Authors:
Jakkula, E; Lohiniva, J; Capone, A; Bonafe, L; Marti, M; Schuster, V; Giedion, A; Eich, G; Boltshauser, E; Ala-Kokko, L; Superti-Furga, A
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 12(2003)
Page Start:
942
Record Type:
Journal Article
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7. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Issue 8 (8th June 2009)

Authors:
Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 8(2009)
Page Start:
562
Record Type:
Journal Article
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8. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. Issue 10 (24th June 2010)

Authors:
Dai, J; Kim, O-H; Cho, T-J; Schmidt-Rimpler, M; Tonoki, H; Takikawa, K; Haga, N; Miyoshi, K; Kitoh, H; Yoo, W-J; Choi, I-H; Song, H-R; Jin, D-K; Kim, H-T; Kamasaki, H; Bianchi, P; Grigelioniene, G; Nampoothiri, S; Minagawa, M; Miyagawa, S-i
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 10(2010)
Page Start:
704
Record Type:
Journal Article
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9. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003)

Authors:
Ballhausen, D; Bonafé, L; Terhal, P; Unger, S L; Bellus, G; Classen, M; Hamel, B C; Spranger, J; Zabel, B; Cohn, D H; Cole, W G; Hecht, J T; Superti-Furga, A
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 1(2003)
Page Start:
65
Record Type:
Journal Article
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10. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. Issue 8 (August 1996)

Authors:
Winterpacht, A; Superti-Furga, A; Schwarze, U; Stöss, H; Steinmann, B; Spranger, J; Zabel, B
Journal:
Journal of medical genetics
Issue:
Volume 33:Issue 8(1996)
Page Start:
649
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗