Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Anticonvulsant drugs and hematological disease

(2014) A. Verrotti et al.   NEUROLOGICAL SCIENCES

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

(2014) Zenobia B. Mehta et al.   TRAFFIC

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

(2014) Ramiro Nández et al.   eLife

FCHSD1 and FCHSD2 Are Expressed in Hair Cell Stereocilia and Cuticular Plate and Regulate Actin Polymerization In Vitro

(2013) Huiren Cao et al.   PLoS One

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

(2012) Tom R. Webb et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Carbamazepine-induced thrombocytopenia

(2012) Ali T. Taher et al.   BLOOD CELLS MOLECULES AND DISEASES

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair

(2012) Hassnaa Mahmoudi et al.   EXPERIMENTAL DERMATOLOGY

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

(2012) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

(2012) Na Luo et al.   HUMAN MOLECULAR GENETICS

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

(2011) Markus Draaken et al.   HUMAN GENETICS

short report: Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

(2010) Dominique Lasne et al.   BRITISH JOURNAL OF HAEMATOLOGY

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

(2009) Antony E. Shrimpton et al.   NEPHRON PHYSIOLOGY

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

(2009) Enrica Tosetto et al.   PEDIATRIC NEPHROLOGY

Fanconi or not Fanconi? Lowe Syndrome Revisited

(2008) R. Kleta   Clinical Journal of the American Society of Nephrology

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

(2008) D. Bockenhauer et al.   Clinical Journal of the American Society of Nephrology

Malformations of Cortical Development

(2008) Trudy Pang et al.   NEUROLOGIST

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome

(2003) J Peverall et al.   CLINICAL GENETICS