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X-linked traits

Characterization of Dystrophin Deficient Rats: A New Model for Duchenne Muscular Dystrophy

Thibaut Larcher, Aude Lafoux, [ ... ], Corinne Huchet

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

Marika Pane, Elena Stacy Mazzone, [ ... ], Eugenio Mercuri

Abcd2 Is a Strong Modifier of the Metabolic Impairments in Peritoneal Macrophages of Abcd1-Deficient Mice

Zahid Muneer, Christoph Wiesinger, [ ... ], Sonja Forss-Petter

Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

Chen Chen, Hongwei Ma, [ ... ], Yang Luo

A Sensitive, Reproducible and Objective Immunofluorescence Analysis Method of Dystrophin in Individual Fibers in Samples from Patients with Duchenne Muscular Dystrophy

Chantal Beekman, Jessica A. Sipkens, [ ... ], Afrodite Lourbakos

Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood

Yini Wang, Zhao Wang, [ ... ], Ling Ye

MID1 Catalyzes the Ubiquitination of Protein Phosphatase 2A and Mutations within Its Bbox1 Domain Disrupt Polyubiquitination of Alpha4 but Not of PP2Ac

Haijuan Du, Kuanlin Wu, [ ... ], Michael A. Massiah

Establishment of a 10-Plex Quantitative Fluorescent-PCR Assay for Rapid Diagnosis of Sex Chromosome Aneuploidies

Xingmei Xie, Qiaoyi Liang

Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital Tooth Agenesis

Tanmoy Sarkar, Rajesh Bansal, Parimal Das

Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study

Sean C. Forbes, Rebecca J. Willcocks, [ ... ], Krista Vandenborne

An Engineered Factor Va Prevents Bleeding Induced by Anticoagulant wt Activated Protein C

Annette von Drygalski, Vikas Bhat, [ ... ], Laurent O. Mosnier

Inactivation of Factor VIIa by Antithrombin In Vitro, Ex Vivo and In Vivo: Role of Tissue Factor and Endothelial Cell Protein C Receptor

Rit Vatsyayan, Hema Kothari, [ ... ], L. Vijaya Mohan Rao

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Alice E. Davidson, Sek-Shir Cheong, [ ... ], Alison J. Hardcastle

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