Related references
Note: Only part of the references are listed.Determining the incidence of rare diseases
Matthew N. Bainbridge
HUMAN GENETICS (2020)
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Raquel Yahyaoui et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
Malak Alghamdi et al.
FRONTIERS IN PEDIATRICS (2020)
Cystinuria: genetic aspects, mouse models, and a new approach to therapy
Amrik Sahota et al.
UROLITHIASIS (2019)
Do Urinary Cystine Parameters Predict Clinical Stone Activity?
Justin I. Friedlander et al.
JOURNAL OF UROLOGY (2018)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants
Pascaline Gaildrat et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2017)
How should patients with cystine stone disease be evaluated and treated in the twenty-first century?
Kim Hovgaard Andreassen et al.
UROLITHIASIS (2016)
The genetic diversity of cystinuria in a UK population of patients
Kathie A. Wong et al.
BJU INTERNATIONAL (2015)
Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom
Hannah L. Rhodes et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data
Steven J. Schrodi et al.
HUMAN GENETICS (2015)
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
Katharina Hopp et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations
Karin Chen et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
Hereditary causes of kidney stones and chronic kidney disease
Vidar O. Edvardsson et al.
PEDIATRIC NEPHROLOGY (2013)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Pathophysiology and treatment of cystinuria
Josep Chillaron et al.
NATURE REVIEWS NEPHROLOGY (2010)
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes
Michele Di Perna et al.
GENETIC TESTING (2008)
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria
YP Yuen et al.
KIDNEY INTERNATIONAL (2006)
Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up
T Knoll et al.
PEDIATRIC NEPHROLOGY (2005)
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
M Font-Llitjos et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mutation analysis of SLC7A9 in cystinuria patients in Sweden
L Harnevik et al.
GENETIC TESTING (2003)