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C. Fallerini et al.
CLINICAL GENETICS (2014)
Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
Vincent Moriniere et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
Yanyan Wang et al.
PEDIATRIC NEPHROLOGY (2014)
Digenic inheritance in medical genetics
Alejandro A. Schaeffer
JOURNAL OF MEDICAL GENETICS (2013)
Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy
Judy Savige et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
Alport syndrome-insights from basic and clinical research
Jenny Kruegel et al.
NATURE REVIEWS NEPHROLOGY (2013)
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
Teresa Esposito et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria
Rajshekhar Chatterjee et al.
PLOS ONE (2013)
Advances in Alport syndrome diagnosis using next-generation sequencing
Rosangela Artuso et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Clinical utility gene card for: Alport syndrome
Jens Michael Hertz et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria
Konstantinos Voskarides et al.
PEDIATRIC NEPHROLOGY (2012)
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Santhosh Girirajan et al.
PLOS GENETICS (2011)
Alport Retinopathy Results from Severe COL4A5 Mutations and Predicts Early Renal Failure
Rachel Tan et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
The Alport Syndrome COL4A5 Variant Database
David K. Crockett et al.
HUMAN MUTATION (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
Xue-Zhong Liu et al.
HUMAN GENETICS (2009)
Natural history of Ullrich congenital muscular dystrophy
A. Nadeau et al.
NEUROLOGY (2009)
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness
K. Nozu et al.
JOURNAL OF MEDICAL GENETICS (2008)
Testing for triallelism:: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
H Hichri et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Modification of human hearing loss by plasma-membrane calcium pump PMCA2
JM Schultz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts
F Wang et al.
KIDNEY INTERNATIONAL (2005)
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
QY Zheng et al.
HUMAN MOLECULAR GENETICS (2005)
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy
CE Kashtan
CURRENT OPINION IN PEDIATRICS (2004)
Salt wasting and deafness resulting from mutations in two chloride channels
KP Schlingmann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Autosomal-dominant Alport syndrome:: Natural history of a disease due to COL4A3 or COL4A4 gene
C Pescucci et al.
KIDNEY INTERNATIONAL (2004)
X-linked Alport syndrome:: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families:: A European community Alport syndrome concerted action study
JP Jais et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Alport's syndrome, Goodpasture's syndrome, and type IV collagen
BG Hudson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Human gene mutation database (HGMD®):: 2003 update
PD Stenson et al.
HUMAN MUTATION (2003)
Basement membranes: Structure, assembly and role in tumour angiogenesis
R Kalluri
NATURE REVIEWS CANCER (2003)
COL4A3/COL4A4 mutations:: From familial hematuria to autosomal-dominant or recessive Alport syndrome
I Longo et al.
KIDNEY INTERNATIONAL (2002)
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
A Koziell et al.
HUMAN MOLECULAR GENETICS (2002)
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis et al.
SCIENCE (2001)
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
Y Pei et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
S Riazuddin et al.
NATURE GENETICS (2000)