共 3 条
[1]
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships
[J].
Bodian, Dale L.
;
Chan, Ting-Fung
;
Poon, Annie
;
Schwarze, Ulrike
;
Yang, Kathleen
;
Byers, Peter H.
;
Kwok, Pui-Yan
;
Klein, Teri E.
.
HUMAN MOLECULAR GENETICS,
2009, 18 (03)
:463-471

Bodian, Dale L.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Chan, Ting-Fung
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Poon, Annie
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Schwarze, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Yang, Kathleen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Byers, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA
Univ Washington, Dept Med, Seattle, WA 98195 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Kwok, Pui-Yan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Cardiovasc Res Inst, Dept Dermatol, San Francisco, CA 94143 USA
Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Klein, Teri E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA
[2]
Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen:: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
[J].
Marini, Joan C.
;
Forlino, Antonella
;
Cabral, Wayne A.
;
Barnes, Aileen M.
;
San Antonio, James D.
;
Milgrom, Sarah
;
Hyland, James C.
;
Korkko, Jarmo
;
Prockop, Darwin J.
;
De Paepe, Anne
;
Coucke, Paul
;
Symoens, Sofie
;
Glorieux, Francis H.
;
Roughley, Peter J.
;
Lund, Alan M.
;
Kuurila-Svahn, Kaija
;
Hartikka, Heini
;
Cohn, Daniel H.
;
Krakow, Deborah
;
Mottes, Monica
;
Schwarze, Ulrike
;
Chen, Diana
;
Yang, Kathleen
;
Kuslich, Christine
;
Troendle, James
;
Dalgleish, Raymond
;
Byers, Peter H.
.
HUMAN MUTATION,
2007, 28 (03)
:209-221

Marini, Joan C.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Forlino, Antonella
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Cabral, Wayne A.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Barnes, Aileen M.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

San Antonio, James D.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Milgrom, Sarah
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Hyland, James C.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Korkko, Jarmo
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Prockop, Darwin J.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

De Paepe, Anne
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Coucke, Paul
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Symoens, Sofie
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Glorieux, Francis H.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Roughley, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Lund, Alan M.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Kuurila-Svahn, Kaija
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Hartikka, Heini
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Cohn, Daniel H.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Krakow, Deborah
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Mottes, Monica
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Schwarze, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Chen, Diana
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Yang, Kathleen
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Kuslich, Christine
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Troendle, James
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Dalgleish, Raymond
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Byers, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构: NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA
[3]
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
[J].
Pyott, Shawna M.
;
Pepin, Melanie G.
;
Schwarze, Ulrike
;
Yang, Kathleen
;
Smith, Gretchen
;
Byers, Peter H.
.
GENETICS IN MEDICINE,
2011, 13 (02)
:125-130

Pyott, Shawna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Seattle, WA 98195 USA

Pepin, Melanie G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Seattle, WA 98195 USA

Schwarze, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Seattle, WA 98195 USA

Yang, Kathleen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Seattle, WA 98195 USA

Smith, Gretchen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Seattle, WA 98195 USA

Byers, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA
Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Seattle, WA 98195 USA