共 4 条
[1]
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review
[J].
Durkin, Anna
;
DeVile, Catherine
;
Arundel, Paul
;
Bull, Mary
;
Walsh, Jennifer
;
Bishop, Nicholas J.
;
Hupin, Emilie
;
Parekh, Susan
;
Nadarajah, Ramesh
;
Offiah, Amaka C.
;
Calder, Alistair
;
Brock, Joanna
;
Baker, Duncan
;
Balasubramanian, Meena
.
JOURNAL OF MEDICAL GENETICS,
2022, 59 (08)
:810-816

Durkin, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

DeVile, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Highly Specialised OI Serv, London, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Arundel, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Highly Specialised OI Serv, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Bull, Mary
论文数: 0 引用数: 0
h-index: 0
机构:
Northern Gen Hosp, Metab Bone Ctr, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Walsh, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Northern Gen Hosp, Metab Bone Ctr, Sheffield, S Yorkshire, England
Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Bishop, Nicholas J.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Highly Specialised OI Serv, Sheffield, S Yorkshire, England
Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Hupin, Emilie
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Highly Specialised OI Serv, London, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Parekh, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Eastman Dent Inst, London, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Nadarajah, Ramesh
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Highly Specialised OI Serv, London, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Offiah, Amaka C.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Highly Specialised OI Serv, Sheffield, S Yorkshire, England
Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Calder, Alistair
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Radiol Dept, London, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Brock, Joanna
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp, Sheffield Diagnost Genet Serv, Connect Tissue Disorders Serv, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Baker, Duncan
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp, Sheffield Diagnost Genet Serv, Connect Tissue Disorders Serv, Sheffield, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England

Balasubramanian, Meena
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Highly Specialised OI Serv, Sheffield, S Yorkshire, England
Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England
Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England Univ Sheffield, Med Sch, Sheffield, S Yorkshire, England
[2]
Quality of life of children and adolescents from Sao Paulo:: reliability and validity of the Brazilian version of the Pediatric Quality of Life Inventory™ version 4.0 Generic Core Scales
[J].
Klatchoian, Denise A.
;
Len, Claudio A.
;
Terreri, Maria Teresa R. A.
;
Silva, Marina
;
Itamoto, Caroline
;
Ciconelli, Rozana M.
;
Varni, James W.
;
Hilario, Maria Odete E.
.
JORNAL DE PEDIATRIA,
2008, 84 (04)
:308-315

Klatchoian, Denise A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Len, Claudio A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Terreri, Maria Teresa R. A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Silva, Marina
论文数: 0 引用数: 0
h-index: 0
机构: Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Itamoto, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Escola Paulista Med, Dept Ophthalmol, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Ciconelli, Rozana M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Escola Paulista Med, Dept Med, Div Rheumatol, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Varni, James W.
论文数: 0 引用数: 0
h-index: 0
机构:
Texas A&M Univ, Coll Architecture, Dept Pediat,Coll Med, Dept Landscape Architecture & Urban Planning, College Stn, TX 77843 USA Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil

Hilario, Maria Odete E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Pediat, Pediat Rheumatol Unit, Sao Paulo, Brazil
[3]
Osteogenesis imperfecta
[J].
Marini, Joan C.
;
Forlino, Antonella
;
Bachinger, Hans Peter
;
Bishop, Nick J.
;
Byers, Peter H.
;
De Paepe, Anne
;
Fassier, Francois
;
Fratzl-Zelman, Nadja
;
Kozloff, Kenneth M.
;
Krakow, Deborah
;
Montpetit, Kathleen
;
Semler, Oliver
.
NATURE REVIEWS DISEASE PRIMERS,
2017, 3

Marini, Joan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

论文数: 引用数:
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Bachinger, Hans Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Res Dept, Portland, OR 97201 USA Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Bishop, Nick J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Sheffield, S Yorkshire, England
Sheffield Childrens NHS Fdn Trust, Sheffield, S Yorkshire, England Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Byers, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol & Med Med Genet, Seattle, WA 98195 USA Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

De Paepe, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Dept Med Genet, Ghent, Belgium Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Fassier, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ, Canada
McGill Univ, Montreal, PQ, Canada Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Fratzl-Zelman, Nadja
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp WGKK, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, AUVA Trauma Ctr Meidling, Med Dept 1, Vienna, Austria Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Kozloff, Kenneth M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Dept Orthopaed Surg, Orthopaed Res Labs, Ann Arbor, MI 48109 USA Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Krakow, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg & Human Genet, Los Angeles, CA 90095 USA Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

Montpetit, Kathleen
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ, Canada Kennedy Shriver Natl Inst Child Hlth & Human Dev, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A42,9000 Rockville Pike, Bethesda, MD 20892 USA

论文数: 引用数:
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[4]
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
[J].
Mendoza-Londono, Roberto
;
Fahiminiya, Somayyeh
;
Majewski, Jacek
;
Tetreault, Martine
;
Nadaf, Javad
;
Kannu, Peter
;
Sochett, Etienne
;
Howard, Andrew
;
Stimec, Jennifer
;
Dupuis, Lucie
;
Roschger, Paul
;
Klaushofer, Klaus
;
Palomo, Telma
;
Ouellet, Jean
;
Al-Jallad, Hadil
;
Mort, John S.
;
Moffatt, Pierre
;
Boudko, Sergei
;
Baechinger, Hans-Peter
;
Rauch, Frank
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2015, 96 (06)
:979-985

论文数: 引用数:
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Fahiminiya, Somayyeh
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ H3A 1B1, Canada
Genome Quebec Innovat Ctr, Montreal, PQ H3A 1B1, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Majewski, Jacek
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ H3A 1B1, Canada
Genome Quebec Innovat Ctr, Montreal, PQ H3A 1B1, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Tetreault, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ H3A 1B1, Canada
Genome Quebec Innovat Ctr, Montreal, PQ H3A 1B1, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Nadaf, Javad
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ H3A 1B1, Canada
Genome Quebec Innovat Ctr, Montreal, PQ H3A 1B1, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Kannu, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
Univ Toronto, Toronto, ON M5G 1X8, Canada
Hosp Sick Children, Bone Hlth Ctr, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Sochett, Etienne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Toronto, ON M5G 1X8, Canada
Hosp Sick Children, Bone Hlth Ctr, Toronto, ON M5G 1X8, Canada
Hosp Sick Children, Div Endocrinol, Dept Paediat, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

论文数: 引用数:
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Stimec, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Bone Hlth Ctr, Toronto, ON M5G 1X8, Canada
Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Dupuis, Lucie
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
Univ Toronto, Toronto, ON M5G 1X8, Canada
Hosp Sick Children, Bone Hlth Ctr, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Roschger, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
WGKK & AUVA Trauma Ctr Meidling, Ludwig Boltzmann Inst Osteol, Med Dept 1, Hanusch Hosp, A-1140 Vienna, Austria Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Klaushofer, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
WGKK & AUVA Trauma Ctr Meidling, Ludwig Boltzmann Inst Osteol, Med Dept 1, Hanusch Hosp, A-1140 Vienna, Austria Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Palomo, Telma
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Ouellet, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Al-Jallad, Hadil
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Mort, John S.
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Moffatt, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Boudko, Sergei
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Portland, OR 97239 USA Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Baechinger, Hans-Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Portland, OR 97239 USA Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

Rauch, Frank
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada