Peggy Modaff

The human disease network

ERS statement on tracheomalacia and bronchomalacia in children

Chromosome Abnormalities and Genetic Counseling

PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress

Achondroplasia

Drug delivery to peroxisomes: Employing unique trafficking mechanisms to target protein therapeutics☆

Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations

The Role of the Endoplasmic Reticulum in Peroxisome Biogenesis

The control of human mesenchymal cell differentiation using nanoscale symmetry and disorder

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

Dynamics and functions of lipid droplets

Strategies in the design of nanoparticles for therapeutic applications

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

Health Supervision for Children With Down Syndrome

Down syndrome

Peroxisome biogenesis disorders

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

The Fibroblast Growth Factor signaling pathway

Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

A vesicle carrier that mediates peroxisome protein traffic from the endoplasmic reticulum

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives

Peroxisome Biogenesis Disorders

Preterm labor: One syndrome, many causes

The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans

The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*

Congenital Malformations

Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy

Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia

Natural history of rhizomelic chondrodysplasia punctata

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken

Array‐based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth

ERRORS IN THE PRENATAL DIAGNOSIS OF CHILDREN WITH ACHONDROPLASIA

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Airway malacia in children with achondroplasia