A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features

(2016) Eriko Nishi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation

(2016) Denise M. van de Laarschot et al.   BONE

Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus

(2016) Sun Young Cho et al.   CLINICA CHIMICA ACTA

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

(2016) Ramesh Reddy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta

(2016) Fang Lv et al.   JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Establishment of a normal reference value of parathyroid hormone in a large healthy Chinese population and evaluation of its relation to bone turnover and bone mineral density

(2016) M. Li et al.   OSTEOPOROSIS INTERNATIONAL

Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment

(2016) P. Trejo et al.   OSTEOPOROSIS INTERNATIONAL

A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis

(2015) Christine M Laine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years

(2015) Telma Palomo et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The role of microhomology in genomic structural variation

(2014) Diego Ottaviani et al.   TRENDS IN GENETICS

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density

(2013) Somayyeh Fahiminiya et al.   BONE

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons

(2013) Alison N. Lyon et al.   HUMAN MOLECULAR GENETICS

Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients

(2013) Giampiero I. Baroncelli et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

(2013) Nick Bishop et al.   LANCET

PLS3 Mutations in X-Linked Osteoporosis with Fractures

(2013) Fleur S. van Dijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

(2012) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

(2012) Johanna Korvala et al.   BMC Medical Genetics

Osteocyte regulation of bone mineral: a little give and take

(2012) G. J. Atkins et al.   OSTEOPOROSIS INTERNATIONAL

Normative data and percentile curves for Dual Energy X-ray Absorptiometry in healthy Indian girls and boys aged 5–17years

(2010) Anuradha V. Khadilkar et al.   BONE

Osteocyte: the unrecognized side of bone tissue

(2010) G. Y. Rochefort et al.   OSTEOPOROSIS INTERNATIONAL

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Osteocyte Shape Is Dependent on Actin Filaments and Osteocyte Processes Are Unique Actin-Rich Projections

(2006) Kayo Tanaka-Kamioka et al.   JOURNAL OF BONE AND MINERAL RESEARCH