William G. Cole - Publications, H-index & Citations

William G. Cole

university of oslo

65H指数

332论文数

1.4W被引数

收录论文 39

发表时间

First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2014-01-20

OAAI

Chen, Frieda; Guo, Ruolin; Itoh, Shousaku; Moreno, Luisa; Rosenthal, Esther; Zappitelli, Tanya; Zirngibl, Ralph A.; Flenniken, Ann; Cole, William; Grynpas, Marc; Osborne, Lucy R.; Vogel, Wolfgang; Adamson, Lee; Rossant, Janet; Aubin, Jane E.

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2013-05-09

296

OAAI

Laine, Christine M.; Joeng, Kyu Sang; Campeau, Philippe M.; Kiviranta, Riku; Tarkkonen, Kati; Grover, Monica; Lu, James T.; Pekkinen, Minna; Wessman, Maija; Heino, Terhi J.; Nieminen-Pihala, Vappu; Aronen, Mira; Laine, Tero; Kroger, Heikki; Cole, William G.; Lehesjoki, Anna-Elina; Nevarez, Lisette; Krakow, Deborah; Curry, Cynthia J. R.; Cohn, Daniel H.; Gibbs, Richard A.; Lee, Brendan H.; Makitie, Outi

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

NATURE GENETICS

IF31.8

2011-10-02

136

PREAI

Lamande, Shireen R.; Yuan, Yuan; Gresshoff, Irma L.; Rowley, Lynn; Belluoccio, Daniele; Kaluarachchi, Kumara; Little, Christopher B.; Botzenhart, Elke; Zerres, Klaus; Amor, David J.; Cole, William G.; Savarirayan, Ravi; McIntyre, Peter; Bateman, John F.

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2011-03-16

OAAI

Laine, C. M.; Chung, B. D.; Susic, M.; Prescott, T.; Semler, O.; Fiskerstrand, T.; D'Eufemia, P.; Castori, M.; Pekkinen, M.; Sochett, E.; Cole, W. G.; Netzer, C.; Makitie, O.

Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2010-04-07

OAAI

Makitie, Outi; Pereira, Renata C.; Kaitila, Ilkka; Turan, Serap; Bastepe, Murat; Laine, Tero; Kroger, Heikki; Cole, William G.; Jueppner, Harald

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

CLINICAL ENDOCRINOLOGY

IF2.4

2010-03-03

PREAI

Saarinen, Anne; Saukkonen, Tero; Kivela, Tero; Lahtinen, Ulla; Laine, Christine; Somer, Mirja; Toiviainen-Salo, Sanna; Cole, William G.; Lehesjoki, Anna-Elina; Makitie, Outi

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2009-12-04

150

OAAI

Hartikka, H; Mäkitie, O; Männikkö, M; Doria, AS; Daneman, A; Cole, WG; Ala-Kokko, L; Sochett, EB

Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5

BONE

IF3.6

2009-07-01

PREAI

Laine, C. M.; Susic, M.; Prescott, T. E.; Netzer, C.; Fiskerstrand, T.; Chung, B.; Cole, W. G.; Sochett, E.; Makitie, O.

Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces Kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen

MOLECULAR AND DEVELOPMENTAL BIOLOGY OF CARTILAGE

IF0

2008-08-22

PREAI

Chen, LP; Yang, W; Cole, WG

No disease-causing mutations in LRP6 or PTHrP found in 26 patients with juvenile idiopathic osteoporosis

BONE

IF3.6

2008-03-01

PREAI

Koltin, Dror; Laine, Christine M.; Saarinen, Anne; Susic, Miki; Parker, Kathy; Cole, William G.; Sochett, Etienne; Makitie, Outi

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

BONE

IF3.6

2007-12-01

PREAI

Toiviainen-Salo, Sanna; Mayranpaa, Mervi K.; Durie, Peter R.; Richards, Nicole; Grynpas, Marc; Ellis, Lynda; Ikegawa, Shiro; Cole, William G.; Rommens, Johanna; Marttinen, Eino; Savilahti, Erkki; Makitie, Outi

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid

HUMAN MOLECULAR GENETICS

IF3.2

2007-04-02

OAAI

Ho, Matthew S. P.; Tsang, Kwok Yeung; Lo, Rebecca L. K.; Susic, Miki; Makitie, Outi; Chan, Tori W. Y.; Ng, Vivian C. W.; Sillence, David O.; Boot-Handford, Raymond P.; Gibson, Gary; Cheung, Kenneth M. C.; Cole, William G.; Cheah, Kathryn S. E.; Chan, Danny

Structural abnormalities of the cornea and lid resulting from collagen V mutations

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2006-02-01

109

PREAI

Segev, F; Héon, E; Cole, WG; Wenstrup, RJ; Young, F; Slomovic, AR; Rootman, DS; Whitaker-Menezes, D; Chervoneva, I; Birk, DE

Mutations in the known genes are not the major cause of MED;: distinctive phenotypic entities among patients with no identified mutations (vol 13, pg 292, 2005)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2005-09-26

OAAI

Jakkula, E; Mäkitie, O; Czarny-Ratajczak, M; Jackson, GC; Damignani, R; Susic, M; Briggs, MD; Cole, WG; Ala-Kokko, L

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2005-05-02

129

OAAI

Gensure, RC; Mäkitie, O; Barclay, C; Chan, C; DePalma, SR; Bastepe, M; Abuzahra, H; Couper, R; Mundlos, S; Sillence, D; Kokko, LA; Seidman, JG; Cole, WG; Jüppner, H

Radiographic vertebral morphology:: A diagnostic tool in pediatric osteoporosis

JOURNAL OF PEDIATRICS

IF3.5

2005-03-01

PREAI

Mäkitie, O; Doria, AS; Henriques, F; Cole, WG; Compeyrot, S; Silverman, E; Laxer, R; Daneman, A; Sochett, EB

Effects of retention harvests on structure of old-growth Pinus strobus L. stands in Ontario

FOREST ECOLOGY AND MANAGEMENT

IF3.7

2005-02-01

PREAI

Bebber, DP; Cole, WG; Thomas, SC; Balsillie, D; Duinker, P