Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Nobuaki Wakamatsu, Yasukazu Yamada, Kenichiro Yamada, +10

Nature Genetics

Molecular PhysiologyMendelian DisorderGenetic DisorderNatural SciencesGenetics +8

Clinical spectrum of fibroblast growth factor receptor mutations

Maria Rita Passos‐Bueno, William R. Wilcox, Ethylin Wang Jabs, +3

Human Mutation

Transplantation of marrow-derived mesenchymal stem cells and platelet-rich plasma during distraction osteogenesis—a preliminary result of three cases

Hiroshi Kitoh, Takahiko Kitakoji, Hiroki Tsuchiya, +4

Bone

Regenerative MedicineTransplantationMarrow TransplantationMedicineStem Cell Transplantation +10

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, +36

The American Journal of Human Genetics

FibrosisDevelopmental BiologySignal TransductionMendelian DisorderGeleophysic Dysplasias +6

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

William R. Wilcox, Patricia L. Tavormina, Deborah Krakow, +5

American Journal of Medical Genetics

Chondrogenesis enhanced by overexpression of sox9 gene in mouse bone marrow-derived mesenchymal stem cells

Hiroki Tsuchiya, Hiroshi Kitoh, Fumiaki Sugiura, +1

Biochemical and Biophysical Research Communications

Regenerative MedicineDevelopmental BiologyMedicineAdult Stem CellStem Cell Research +7

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, +28

The American Journal of Human Genetics

Mendelian DisorderConnective Tissue DisordersGenetic DisorderGlycobiologyMolecular Biology +7

Transplantation of culture expanded bone marrow cells and platelet rich plasma in distraction osteogenesis of the long bones

Hiroshi Kitoh, Takahiko Kitakoji, Hiroki Tsuchiya, +2

Bone

Regenerative MedicineTransplantationDevelopmental BiologyMarrow TransplantationBone Morphogenic Protein +12

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

Yoshinari Miyamoto, Tatsuo Matsuda, Hiroshi Kitoh, +4

Human Genetics

Recurrent MutationMendelian DisorderGenetic DisorderJapanese FamilyGenetics +5

The effect of the platelet concentration in platelet-rich plasma gel on the regeneration of bone

Motoaki Kawasumi, Hiroshi Kitoh, Karolina Siwicka, +1

Journal of Bone and Joint Surgery - British Volume

Tissue EngineeringEngineeringBone RepairBiomedical EngineeringPlatelet Concentration +14