1 |
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
62
57
5
|
Gong Y...Osteoporosis-Pseudoglioma Syndrome Collaborative Group
|
11719191 |
2001 |
2 |
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
53
62
57
|
Narumi S...Hasegawa T
|
20034086 |
2010 |
3 |
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
53
62
5
|
Ai M...Osteoporosis-Pseudoglioma Collaborative Group
|
16252235 |
2005 |
4 |
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
62
57
|
Gong Y...Warman ML
|
8659519 |
1996 |
5 |
Osteoporosis-pseudoglioma syndrome.
62
57
|
De Paepe A...Capoen J
|
8418655 |
1993 |
6 |
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.
62
57
|
Somer H...Peltonen L
|
3172149 |
1988 |
7 |
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
62
57
|
Teebi AS...Satyanath S
|
3351889 |
1988 |
8 |
Osteoporosis-pseudoglioma syndrome.
62
57
|
Beighton P
|
3698336 |
1986 |
9 |
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta.
62
57
|
Frontali M...Dallapiccola B
|
3698335 |
1986 |
10 |
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview.
62
57
|
Frontali M...Dallapiccola B
|
3931475 |
1985 |
11 |
The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.
62
57
|
Beighton P...Behari D
|
4028503 |
1985 |
12 |
Autosomal recessive syndrome of pseudogliomantous blindness, osteoporosis and mild mental retardation.
62
57
|
Neuhauser G...Opitz JM
|
1261071 |
1976 |
13 |
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
5
|
Qin M...Kondo H
|
15981244 |
2005 |
14 |
Ocular osteogenesis imperfecta.
57
|
Brude E
|
3955877 |
1986 |
15 |
Osteoporosis-pseudoglioma or osteogenesis imperfecta?
57
|
Superti-Furga A...Perfumo F
|
3955875 |
1986 |
16 |
[Bilateral pseudo-glioma with generalized osteoporosis: an autosomal recessive disease].
57
|
Briard ML...Frezal J
|
1025282 |
1976 |
17 |
Atypical osteogenesis imperfecta: Lobstein's disease.
57
|
MEYER H
|
13249697 |
1955 |
18 |
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
53
62
|
Saarinen A...Makitie O
|
19673927 |
2010 |
19 |
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
53
62
|
Chung BD...Netzer C
|
19177549 |
2009 |
20 |
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.
53
62
|
Streeten EA...Morton H
|
18602879 |
2008 |
21 |
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation.
53
62
|
Barros ER...Lazaretti-Castro M
|
18825883 |
2008 |
22 |
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations.
53
62
|
Balemans W...Van Hul W
|
18521528 |
2008 |
23 |
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.
53
62
|
Barros ER...Lazaretti-Castro M
|
17437160 |
2007 |
24 |
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene.
53
62
|
Drenser KA...Trese MT
|
17353424 |
2007 |
25 |
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment.
53
62
|
Sawakami K...Turner CH
|
16790443 |
2006 |
26 |
[Wnt-beta-catenin signaling in bone metabolism].
53
62
|
Urano T
|
16397351 |
2006 |
27 |
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.
53
62
|
Levasseur R...de Vernejoul MC
|
15850991 |
2005 |
28 |
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.
53
62
|
Hartikka H...Sochett EB
|
15824851 |
2005 |
29 |
Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.
53
62
|
Koh JM...Kim GS
|
15201508 |
2004 |
30 |
[Osteoporosis associated with gene mutation].
53
62
|
Ozono K...Kubota T
|
15775238 |
2003 |
31 |
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
53
62
|
Van Wesenbeeck L...Van Hul W
|
12579474 |
2003 |
32 |
Cloning and expression of Xenopus Lrp5 and Lrp6 genes.
53
62
|
Houston DW...Wylie C
|
12204281 |
2002 |
33 |
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor.
53
62
|
Kato M...Chan L
|
11956231 |
2002 |
34 |
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
62
|
Abdel-Hamid MS...Aglan MS
|
35106624 |
2022 |
35 |
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.
62
|
Karakilic-Ozturan E...Darendeliler F
|
35393770 |
2022 |
36 |
Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.
62
|
Homaei A...Saffari F
|
35993038 |
2022 |
37 |
Structure and function of the retina of low-density lipoprotein receptor-related protein 5 (Lrp5)-deficient rats.
62
|
Ubels JL...Williams BO
|
35139333 |
2022 |
38 |
Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome.
62
|
Ebert JJ...Sisk RA
|
35417292 |
2022 |
39 |
[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome].
62
|
Bai Z...Kong X
|
35076916 |
2022 |
40 |
Zebrafish mutants reveal unexpected role of Lrp5 in osteoclast regulation.
62
|
Khrystoforova I...Karasik D
|
36120446 |
2022 |
41 |
Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome.
62
|
Heidari A...Saffari F
|
34965700 |
2021 |
42 |
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR-Based Functional Screening of Osteoporosis Candidate Genes.
62
|
Bek JW...Coucke PJ
|
33957005 |
2021 |
43 |
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP).
62
|
Sturznickel J...Oheim R
|
33118644 |
2021 |
44 |
Role of the fibroblast growth factor 19 in the skeletal system.
62
|
Chen H...Xie J
|
33245964 |
2021 |
45 |
Osteoporosis Pseudoglioma Syndrome.
62
|
Gowda VK...Benakappa N
|
33531964 |
2020 |
46 |
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
62
|
Braslavsky D...Bergada I
|
32470270 |
2020 |
47 |
The evolving therapeutic landscape of genetic skeletal disorders.
62
|
Sabir AH...Cole T
|
31888683 |
2019 |
48 |
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.
62
|
Papadopoulos I...Papadopoulou A
|
30499050 |
2019 |
49 |
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.
62
|
Vogiatzi MG...Levine MA
|
28971234 |
2018 |
50 |
Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.
62
|
Nguyen HH...Ebeling PR
|
30283886 |
2018 |