Autosomal recessive polycystic kidney disease.

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ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. Am J Pathol (2006) 1.45

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet (2007) 1.43

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc Natl Acad Sci U S A (2004) 1.42

Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. Am J Pathol (2008) 1.34

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr (2014) 1.29

Inhibition of Pkhd1 impairs tubulomorphogenesis of cultured IMCD cells. Mol Biol Cell (2005) 1.17

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. J Am Soc Nephrol (2011) 1.09

Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies. Cell Mol Life Sci (2008) 1.01

The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis (2011) 0.96

Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. Clin Transl Sci (2011) 0.89

Novel insights into TRPV4 function in the kidney. Pflugers Arch (2012) 0.83

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol Genet Metab (2011) 0.81

Deciphering physiological role of the mechanosensitive TRPV4 channel in the distal nephron. Am J Physiol Renal Physiol (2014) 0.80

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. Pediatr Nephrol (2013) 0.78

New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. Pediatr Transplant (2013) 0.77

Tissue-specific regulation of the mouse Pkhd1 (ARPKD) gene promoter. Am J Physiol Renal Physiol (2014) 0.77

Role of renal TRP channels in physiology and pathology. Semin Immunopathol (2015) 0.77

Pathways, perspectives and pursuits in polycystic kidney disease. J Nephropharmacol (2015) 0.75

Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet (2014) 0.75

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. J Hum Genet (2016) 0.75

Hepatorenal fibrocystic diseases in children. Pediatr Nephrol (2015) 0.75

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HIV prevention and family planning: integration improves client services in Jamaica. Aidscaptions (1995) 4.02

Structure determination of the small ubiquitin-related modifier SUMO-1. J Mol Biol (1998) 2.66

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol (1995) 2.56

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Alcohol and injury. A case-crossover study. Arch Fam Med (1995) 2.49

The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller. Nature (1998) 2.42

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet (1995) 2.34

An improved technique for the in situ detection of DNA after polymerase chain reaction amplification. Am J Pathol (1991) 2.32

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet (1994) 2.30

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet (1999) 2.21

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet (1997) 2.05

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet (1998) 1.85

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta. Genes Dev (1997) 1.76

Raised serum alkaline phosphatase in rheumatoid disease. An index of liver dysfunction? Ann Rheum Dis (1970) 1.67

Detection of submicroscopic lymph node metastases in patients with melanoma. Arch Surg (1991) 1.61

Leflunomide failure to control recurrent cytomegalovirus infection in the setting of renal failure after allogeneic stem cell transplantation. Transpl Infect Dis (2007) 1.61

A comparison of conventional panoramic radiographs with volumetric computed tomography images in the preoperative assessment of impacted mandibular third molars. J Oral Maxillofac Surg (2002) 1.61

The influence of the cause of death and age on human corneal metabolism. Invest Ophthalmol Vis Sci (1994) 1.54

Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord (2002) 1.53

Small bowel obstruction by jejunal enterolith. Surgery (1997) 1.52

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie. Acta Paediatr (1996) 1.49

Very early cytological and DNA-cytometric diagnosis of in situ carcinoma in an immunosuppressed liver transplant recipient. J Oral Pathol Med (2006) 1.49

Combined histochemical stains in the differential diagnosis of Cryptococcus neoformans. Mod Pathol (1993) 1.48

Analysis of oral papillomas, leukoplakias, and invasive carcinomas for human papillomavirus type related DNA. J Invest Dermatol (1985) 1.47

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci U S A (1999) 1.46

Visually detectable resolution of intraoral dental films. Dentomaxillofac Radiol (2003) 1.45

Primary structure and functional organization of Drosophila 1731 retrotransposon. Nucleic Acids Res (1988) 1.45

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet (1995) 1.45

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Cardiac resuscitation. The search for hemodynamically more effective methods. Chest (1997) 1.41

The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner. FEBS Lett (1999) 1.40

High dose methotrexate infusion with leucovorin rescue for treatment of ectopic pregnancy. Wis Med J (1995) 1.39

Hantavirus reservoir hosts associated with peridomestic habitats in Argentina. Emerg Infect Dis (2000) 1.36

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci (1997) 1.35

The crystal structure of rna1p: a new fold for a GTPase-activating protein. Mol Cell (1999) 1.34

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet (1996) 1.32

Morphometric analysis of gray matter volume in demented older adults: exploratory analysis of the cardiovascular health study brain MRI database. Neuroepidemiology (2005) 1.32

Capsular constriction of the hip: arthrographic and clinical considerations. Skeletal Radiol (1981) 1.31

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet (1997) 1.31

First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. Mol Psychiatry (2009) 1.27

Social networks: we get by with (and in spite of) a little help from our friends. J Pers Soc Psychol (1987) 1.25

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am J Hum Genet (1993) 1.21

Bioimpedance-based identification of malnutrition using fuzzy logic. Physiol Meas (2008) 1.21

Nucleotide sequence of the gene, protein purification and characterization of the pSC101-encoded tetracycline resistance-gene-repressor. Gene (1984) 1.19

Effect of history of alcoholism or major depression on smoking cessation. Am J Psychiatry (1993) 1.18

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3. Genomics (1994) 1.18

Rapid in situ detection of PCR-amplified HIV-1 DNA. Diagn Mol Pathol (1992) 1.18

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Tamm-Horsfall proteinuria. Its relationship to prolonged nephrogram in infants and children and to renal failure following intravenous urography in adults with multiple myeloma. Radiology (1969) 1.16

Subjective image quality of digitally filtered radiographs acquired by the Dürr Vistascan system compared with conventional radiographs. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2006) 1.15

Structural and biochemical properties show ARL3-GDP as a distinct GTP binding protein. Structure (2000) 1.14

HIV-1 nucleic acids localize to the spermatogonia and their progeny. A study by polymerase chain reaction in situ hybridization. Am J Pathol (1994) 1.13

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie. J Med Genet (1993) 1.13

Raw versus relative scores in the assessment of coping strategies. J Behav Med (1987) 1.13

Healing of intrabony peri-implantitis defects following application of a nanocrystalline hydroxyapatite (Ostim) or a bovine-derived xenograft (Bio-Oss) in combination with a collagen membrane (Bio-Gide). A case series. J Clin Periodontol (2006) 1.10

Response to systemic HIV viral load suppression correlates with psychomotor speed performance. Neurology (2003) 1.10

In situ detection of PCR-amplified HIV-1 nucleic acids in lymph nodes and peripheral blood in patients with asymptomatic HIV-1 infection and advanced-stage AIDS. J Acquir Immune Defic Syndr (1994) 1.09

The Ways of Coping Checklist: Revision and Psychometric Properties. Multivariate Behav Res (1985) 1.08

Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene. Transl Psychiatry (2014) 1.07

Psychiatric disorders in spouse caregivers of care recipients with Alzheimer's disease and matched controls: a diathesis-stress model of psychopathology. J Abnorm Psychol (1995) 1.07

Immunohistochemical distribution of collagens types IV, V, and VI and of pro-collagens types I and III in human alveolar bone and dentine. J Histochem Cytochem (1986) 1.07

Universal WBC reduction. Transfusion (2000) 1.06

Observation of a charged charmoniumlike structure in e+ e- → π+ π- J/ψ at sqrt[s] = 4.26  GeV. Phys Rev Lett (2013) 1.05

Undulin, an extracellular matrix glycoprotein associated with collagen fibrils. J Biol Chem (1990) 1.04

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases. Prenat Diagn (1995) 1.03

Collagen VI regulates normal and transformed mesenchymal cell proliferation in vitro. Exp Cell Res (1996) 1.02

Life with too much polyprenol: polyprenol reductase deficiency. Mol Genet Metab (2011) 1.02

Cytologic and DNA-cytometric very early diagnosis of oral cancer. J Oral Pathol Med (2004) 1.02

A Drosophila muscle-specific gene related to the mouse quaking locus. Gene (1997) 1.02

Guided bone regeneration at dehiscence-type defects using biphasic hydroxyapatite + beta tricalcium phosphate (Bone Ceramic) or a collagen-coated natural bone mineral (BioOss Collagen): an immunohistochemical study in dogs. Int J Oral Maxillofac Surg (2007) 1.02

Melanotic neuroectodermal tumor of infancy. Oral Surg Oral Med Oral Pathol (1990) 1.01

Twin chorionicity and the risk of adverse perinatal outcome. Int J Gynaecol Obstet (2007) 1.01

Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12. Am J Hum Genet (1994) 1.00

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers. Hum Genet (1991) 1.00

Spinal muscular atrophy--clinical and genetic correlations. Neuromuscul Disord (1997) 1.00

Perfluorohexyloctane as a long-term vitreous tamponade in the experimental animal. Experimental perfluorohexyloctane substitution. Int Ophthalmol (1999) 0.99

Comparison of microarray preprocessing methods. Adv Exp Med Biol (2010) 0.99

In situ hybridization to detect Epstein-Barr virus DNA in oral tissues of HIV-infected patients. Virchows Arch A Pathol Anat Histopathol (1987) 0.99

Association of microbial community composition and activity with lead, chromium, and hydrocarbon contamination. Appl Environ Microbiol (2002) 0.99

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites. Eur J Hum Genet (1995) 0.98

Computed tomography angiography for the detection and characterization of intra-cranial aneurysms: current status. Clin Radiol (2005) 0.98

Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse. Eur J Hum Genet (1998) 0.98

A system for studying genetic changes in Candida albicans during infection. Fungal Genet Biol (2003) 0.98

CSF antiretroviral drug penetrance and the treatment of HIV-associated psychomotor slowing. Neurology (2001) 0.98

Fibronectin 1 protein expression in clear cell renal cell carcinoma. Oncol Lett (2012) 0.98

Hydrogen peroxide (H2O2) induces actin and some heat-shock proteins in Drosophila cells. Eur J Biochem (1988) 0.98

Green fluorescent protein/beta-galactosidase double reporters for visualizing Drosophila gene expression patterns. Dev Genet (1997) 0.97

Treatment of neonatal thrombus formation with recombinant tissue plasminogen activator: six years experience and review of the literature. Arch Dis Child Fetal Neonatal Ed (2001) 0.97

Odontogenic myxoma--characterisation of the extracellular matrix (ECM) of the tumour stroma. Eur J Cancer B Oral Oncol (1994) 0.97

The American Board of Radiology perspective on maintenance of certification: part IV--Practice quality improvement in diagnostic radiology. AJR Am J Roentgenol (2007) 0.97

First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. J Musculoskelet Neuronal Interact (2012) 0.96

Stimulation of nuclear export and inhibition of nuclear import by a Ran mutant deficient in binding to Ran-binding protein 1. J Biol Chem (2001) 0.96

Autogenous bone chips: influence of a new piezoelectric device (Piezosurgery) on chip morphology, cell viability and differentiation. J Clin Periodontol (2005) 0.95