Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

(2017) Michel Satya Naslavsky et al.   HUMAN MUTATION

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

(2016) Charlotte Gistelinck et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

InterPro in 2017—beyond protein family and domain annotations

(2016) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

(2016) Jose A. Caparros-Martin et al.   Molecular Genetics & Genomic Medicine

IBS: an illustrator for the presentation and visualization of biological sequences: Fig. 1.

(2015) Wenzhong Liu et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

(2014) Peiran Zhou et al.   PLoS One

Deregulation of the lysyl hydroxylase matrix cross-linking system in experimental and clinical bronchopulmonary dysplasia

(2013) Thilo J. Witsch et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

(2012) Maria Trinidad Puig-Hervás et al.   HUMAN MUTATION

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Missense Mutations That Cause Bruck Syndrome Affect Enzymatic Activity, Folding, and Oligomerization of Lysyl Hydroxylase 2

(2009) Marjo Hyry et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

(2008) Antti M. Salo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Continuous growth reference from 24thweek of gestation to 24 months by gender

(2008) Aimon Niklasson et al.   BMC Pediatrics

Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors

(2008) Robin L. Bennett et al.   Journal of Genetic Counseling

Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

(2008) Nesibe Andiran et al.   PEDIATRICS INTERNATIONAL