Copy-number variation associated with congenital anomalies of the kidney and urinary tract.

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Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol (2014) 0.95

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De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet (2010) 0.93

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Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. Am J Med Genet A (2012) 0.85

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. Pediatr Nephrol (2013) 0.85

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Endothelial-myofibroblast transition contributes to the early development of diabetic renal interstitial fibrosis in streptozotocin-induced diabetic mice. Am J Pathol (2009) 2.01

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Role of microRNAs in kidney homeostasis and disease. Kidney Int (2012) 1.72

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Nephron number, hypertension, renal disease, and renal failure. J Am Soc Nephrol (2005) 1.57

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A comparison of nephron number, glomerular volume and kidney weight in Senegalese Africans and African Americans. Nephrol Dial Transplant (2010) 1.56

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet (2010) 1.50

Blockade of endothelial-mesenchymal transition by a Smad3 inhibitor delays the early development of streptozotocin-induced diabetic nephropathy. Diabetes (2010) 1.48

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Renal structural and functional repair in a mouse model of reversal of ureteral obstruction. J Am Soc Nephrol (2005) 1.40

The contribution of bone marrow-derived cells to the development of renal interstitial fibrosis. Stem Cells (2006) 1.40

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. Hum Mutat (2011) 1.38

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Nephron number, renal function, and arterial pressure in aged GDNF heterozygous mice. Hypertension (2003) 1.37

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Prenatal corticosterone exposure results in altered AT1/AT2, nephron deficit and hypertension in the rat offspring. J Physiol (2007) 1.34

Resveratrol inhibits renal fibrosis in the obstructed kidney: potential role in deacetylation of Smad3. Am J Pathol (2010) 1.33

Accelerated maturation and abnormal morphology in the preterm neonatal kidney. J Am Soc Nephrol (2011) 1.31

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet (2010) 1.31

In vitro differentiation of murine embryonic stem cells toward a renal lineage. Differentiation (2007) 1.31

Determinants of glomerular volume in different cortical zones of the human kidney. J Am Soc Nephrol (2005) 1.31

Explicit and implicit evaluation of physician adherence to hypertension guidelines. J Clin Hypertens (Greenwich) (2007) 1.31

Nephron number, glomerular volume, renal disease and hypertension. Curr Opin Nephrol Hypertens (2008) 1.30

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4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet (2009) 1.30

Associations of glomerular number and birth weight with clinicopathological features of African Americans and whites. Am J Kidney Dis (2008) 1.30

Renal cilia display length alterations following tubular injury and are present early in epithelial repair. Nephrol Dial Transplant (2007) 1.28

A cluster-randomized effectiveness trial of a physician-pharmacist collaborative model to improve blood pressure control. Circ Cardiovasc Qual Outcomes (2010) 1.26

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet (2005) 1.21

Does nephron number matter in the development of kidney disease? Ethn Dis (2006) 1.19

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Measuring glomerular number and size in perfused kidneys using MRI. Am J Physiol Renal Physiol (2011) 1.15

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An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1). Mol Cytogenet (2008) 1.12

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Deletion of Frs2alpha from the ureteric epithelium causes renal hypoplasia. Am J Physiol Renal Physiol (2009) 1.12

Review: Endothelial-myofibroblast transition, a new player in diabetic renal fibrosis. Nephrology (Carlton) (2010) 1.11

Glomerular number and size variability and risk for kidney disease. Curr Opin Nephrol Hypertens (2011) 1.10

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nat Genet (2012) 1.10

Quantification of glomerular number and size distribution in normal rat kidneys using magnetic resonance imaging. Nephrol Dial Transplant (2011) 1.10

Glomerular endothelial cell injury and damage precedes that of podocytes in adriamycin-induced nephropathy. PLoS One (2013) 1.10

Augmented and accelerated nephrogenesis in TGF-beta2 heterozygous mutant mice. Pediatr Res (2008) 1.09

Three-dimensional imaging reveals ureteric and mesenchymal defects in Fgfr2-mutant kidneys. J Am Soc Nephrol (2009) 1.08

Compensatory renal growth after unilateral nephrectomy in the ovine fetus. J Am Soc Nephrol (2002) 1.06

Combined prenatal and postnatal protein restriction influences adult kidney structure, function, and arterial pressure. Am J Physiol Regul Integr Comp Physiol (2006) 1.05

A stereological study of the renal glomerular vasculature in the db/db mouse model of diabetic nephropathy. J Anat (2005) 1.04

The limited effect of screening for depressive symptoms with the PHQ-9 in rural family practices. J Rural Health (2005) 1.04

FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A (2013) 1.04

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Subfractionation of differentiating human embryonic stem cell populations allows the isolation of a mesodermal population enriched for intermediate mesoderm and putative renal progenitors. Stem Cells Dev (2010) 1.02

An assessment of attitudes, behaviors, and outcomes of patients with type 2 diabetes. J Am Board Fam Med (2009) 1.02

Effects of dietary protein restriction on nephron number in the mouse. Am J Physiol Regul Integr Comp Physiol (2007) 1.02

Exogenous BMP-4 amplifies asymmetric ureteric branching in the developing mouse kidney in vitro. Kidney Int (2005) 1.01

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Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. Am J Med Genet A (2009) 1.01

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A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med (2008) 1.00

Estimation of glomerular podocyte number: a selection of valid methods. J Am Soc Nephrol (2013) 1.00

CKD in Aboriginal Australians. Am J Kidney Dis (2010) 0.99

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Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat (2011) 0.99

Towards a definition of glomerulomegaly: clinical-pathological and methodological considerations. Nephrol Dial Transplant (2010) 0.99

Nephron number and individual glomerular volumes in male Caucasian and African American subjects. Nephrol Dial Transplant (2009) 0.97

Renal pathology, glomerular number and volume in a West African urban community. Nephrol Dial Transplant (2008) 0.97

The outcome of prenatally diagnosed renal tumors. J Urol (2005) 0.97

The Iowa Continuity of Care study: Background and methods. Am J Health Syst Pharm (2008) 0.96

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat (2004) 0.96

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Mutagenesis of the epithelial polarity gene, discs large 1, perturbs nephrogenesis in the developing mouse kidney. Kidney Int (2005) 0.94

The where, what and why of the developing renal stroma. Nephron Exp Nephrol (2005) 0.94

Phenotype in novel Xp duplication. Am J Med Genet A (2012) 0.94

Is there an association between level of adult blood pressure and nephron number or renal filtration surface area? Kidney Int (2004) 0.94

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A (2013) 0.94

Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet (2012) 0.94

Estimating total nephron number in the adult kidney using the physical disector/fractionator combination. Methods Mol Biol (2012) 0.93

Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A (2011) 0.93

Distribution of volumes of individual glomeruli in kidneys at autopsy: association with physical and clinical characteristics and with ethnic group. Am J Nephrol (2011) 0.93

Betaglycan is required for the establishment of nephron endowment in the mouse. PLoS One (2011) 0.93

The emerging role of MRI in quantitative renal glomerular morphology. Am J Physiol Renal Physiol (2013) 0.93

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A (2010) 0.92

Spatial gene expression in the T-stage mouse metanephros. Gene Expr Patterns (2006) 0.92

Blockade of p38 mitogen-activated protein kinase and TGF-beta1/Smad signaling pathways rescues bone marrow-derived peritubular capillary endothelial cells in adriamycin-induced nephrosis. J Am Soc Nephrol (2006) 0.91

Associations between age, body size and nephron number with individual glomerular volumes in urban West African males. Nephrol Dial Transplant (2008) 0.91