Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
出版年份 2014 全文链接
标题
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
作者
关键词
Oculocerebrorenal syndrome of Lowe, <em class=EmphasisTypeItalic >OCRL</em>, Cataract, CpG dinucleotides, Hyperosmia, Hyperacusis, Thrombocytopenia
出版物
PEDIATRIC NEPHROLOGY
Volume 30, Issue 6, Pages 931-943
出版商
Springer Nature
发表日期
2014-12-08
DOI
10.1007/s00467-014-3013-2
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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