Associated Papers
A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.
Lhousni S et al.
Bone, 2023
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
Umair M et al.
Congenital Anomalies, 2017
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
Farooq M et al.
Human Genetics, 2013
Dominant negative mutations of Caenorhabditis elegans daf-7 confer a novel developmental phenotype.
Crook M et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2013
A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.
Dodd AW et al.
European Journal of Human Genetics : Ejhg, 2013
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutiérrez-Amavizca BE et al.
European Journal of Medical Genetics, 2012
Mutations in GDF5 presenting as semidominant brachydactyly A1.
Byrnes AM et al.
Human Mutation, 2010
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
Yang W et al.
Journal of Human Genetics, 2008
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
Faiyaz-Ul-Haque M et al.
Journal of Bone and Mineral Metabolism, 2008
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
Masuya H et al.
Human Molecular Genetics, 2007
A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
Wang X et al.
American Journal of Medical Genetics. Part A, 2006
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
Kjaer KW et al.
Journal of Medical Genetics, 2006
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
Szczaluba K et al.
American Journal of Medical Genetics. Part A, 2005
A single residue of GDF-5 defines binding specificity to BMP receptor IB.
Nickel J et al.
Journal of Molecular Biology, 2005
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
Schwabe GC et al.
American Journal of Medical Genetics. Part A, 2004
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
Al-Yahyaee SA et al.
American Journal of Medical Genetics. Part A, 2003
Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil.
Muñoz Rojas MV et al.
American Journal of Medical Genetics, 2002
The mutational spectrum of brachydactyly type C.
Everman DB et al.
American Journal of Medical Genetics, 2002
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
Faiyaz-Ul-Haque M et al.
American Journal of Medical Genetics, 2002
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2002
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.
Faivre L et al.
Journal of Medical Genetics, 2000
Mechanisms of GDF-5 action during skeletal development.
Francis-West PH et al.
Development (cambridge, England), 1999
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.
Costa T et al.
American Journal of Medical Genetics, 1998
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
Polinkovsky A et al.
Nature Genetics, 1997
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
Thomas JT et al.
Nature Genetics, 1997
Grebe dysplasia and the spectrum of CDMP1 mutations.
Stelzer C et al.
Pediatric Pathology & Molecular Medicine, 0
Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.
Khan S et al.
Pakistan Journal of Medical Sciences, 0