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American Journal of Medical Genetics
|
December 1, 1992
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity
J Bonaventure, R Stanescu, V Stanescu, et al.
Human Molecular Genetics
|
April 6, 2000
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
V El Ghouzzi, L Legeai-Mallet, S Aresta, et al.
Clinical Dysmorphology
|
October 25, 2000
Overlap between Baller-Gerold and Rothmund-Thomson syndrome
A Mégarbané, I Melki, N Souraty, et al.
European Journal of Human Genetics : EJHG
|
March 27, 1999
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
V El Ghouzzi, E Lajeunie, M Le Merrer, et al.
FEBS Letters
|
March 15, 2001
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome
V El Ghouzzi, L Legeai-Mallet, C Benoist-Lasselin, et al.
Journal of Medical Genetics
|
September 1, 1996
Clinical and genetic heterogeneity of hypochondroplasia
F Rousseau, J Bonaventure, L Legeai-Mallet, et al.
Mechanisms of Development
|
October 24, 1998
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification
A L Delezoide, C Benoist-Lasselin, L Legeai-Mallet, et al.
Journal of Cellular Biochemistry
|
August 26, 1998
Fibroblast growth factor downregulates expression of a basic helix-loop-helix-type transcription factor, scleraxis, in a chondrocyte-like cell line, TC6
T Kawa-uchi, A Nifuji, N Mataga, et al.
The Journal of Biological Chemistry
|
May 6, 1994
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes
P Freisinger, L Ala-Kokko, D LeGuellec, et al.
Human Molecular Genetics
|
April 1, 1996
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
F Rousseau, V el Ghouzzi, A L Delezoide, et al.
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of 9
Search research articles
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Showing results (51-60 of 81) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics
|
December 1, 1992
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity
J Bonaventure, R Stanescu, V Stanescu, et al.
Human Molecular Genetics
|
April 6, 2000
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
V El Ghouzzi, L Legeai-Mallet, S Aresta, et al.
Clinical Dysmorphology
|
October 25, 2000
Overlap between Baller-Gerold and Rothmund-Thomson syndrome
A Mégarbané, I Melki, N Souraty, et al.
European Journal of Human Genetics : EJHG
|
March 27, 1999
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
V El Ghouzzi, E Lajeunie, M Le Merrer, et al.
FEBS Letters
|
March 15, 2001
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome
V El Ghouzzi, L Legeai-Mallet, C Benoist-Lasselin, et al.
Journal of Medical Genetics
|
September 1, 1996
Clinical and genetic heterogeneity of hypochondroplasia
F Rousseau, J Bonaventure, L Legeai-Mallet, et al.
Mechanisms of Development
|
October 24, 1998
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification
A L Delezoide, C Benoist-Lasselin, L Legeai-Mallet, et al.
Journal of Cellular Biochemistry
|
August 26, 1998
Fibroblast growth factor downregulates expression of a basic helix-loop-helix-type transcription factor, scleraxis, in a chondrocyte-like cell line, TC6
T Kawa-uchi, A Nifuji, N Mataga, et al.
The Journal of Biological Chemistry
|
May 6, 1994
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes
P Freisinger, L Ala-Kokko, D LeGuellec, et al.
Human Molecular Genetics
|
April 1, 1996
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
F Rousseau, V el Ghouzzi, A L Delezoide, et al.
Page
of 9