Published in BMC Med Genet on June 17, 2010
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Distinct membrane compartmentalization and signaling of ephrin-A5 and ephrin-B1. Biochem Biophys Res Commun (2008) 0.80
Ephrin-B1 promotes dendrite outgrowth on cerebellar granule neurons. Mol Cell Neurosci (2002) 0.80
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A (2008) 2.17
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Dent Disease with mutations in OCRL1. Am J Hum Genet (2004) 1.81
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet (2012) 1.74
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
Kawasaki disease misdiagnosed as acute pyelonephritis. Pediatr Nephrol (2003) 1.47
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril (2010) 1.44
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol (2007) 1.35
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol (2008) 1.24
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet (2009) 1.23
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am J Hum Genet (2012) 1.21
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A (2014) 1.20
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat (2008) 1.18
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant (2008) 1.16
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Mol Genet Metab (2005) 1.14
Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr (2009) 1.09
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int (2011) 1.07
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab (2014) 1.05
Atypical presentation of distal renal tubular acidosis in two siblings. Pediatr Nephrol (2008) 1.04
Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis (2006) 1.04
Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review. Hum Pathol (2008) 1.03
Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. Oncol Rep (2007) 1.01
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant (2007) 1.00
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Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Hum Mol Genet (2013) 0.99
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet (2008) 0.98
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Res (2010) 0.97
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol (2005) 0.96
Nephropathic cystinosis--a gap between developing and developed nations. N Engl J Med (2014) 0.95
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol (2007) 0.94
Long-acting pegylated human GH in children with GH deficiency: a single-dose, dose-escalation trial investigating safety, tolerability, pharmacokinetics and pharmacodynamics. Eur J Endocrinol (2011) 0.93
Clinical and functional characterization of URAT1 variants. PLoS One (2011) 0.92
The importance of rare diseases: from the gene to society. Arch Dis Child (2010) 0.91
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis (2006) 0.90
Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction. Nephrol Dial Transplant (2009) 0.90
Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts. J Cyst Fibros (2004) 0.89
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol (2012) 0.89
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. Eur J Hum Genet (2013) 0.89
Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease. Virchows Arch (2005) 0.87
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Sex Dev (2010) 0.87
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet (2010) 0.87
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. Am J Med Genet A (2006) 0.87
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet (2012) 0.86
Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat (2004) 0.86
Quantitative methods for the analysis of CFTR transcripts/splicing variants. J Cyst Fibros (2004) 0.86
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet (2013) 0.85
Loss of heterozygosity on chromosome 5p13-12 predicts adverse prognosis in advanced bladder cancer independent of tumor stage and grade. J Urol (2002) 0.85
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics (2003) 0.85
Late diagnosis of primary hyperoxaluria after failed kidney transplantation. Int Urol Nephrol (2009) 0.84
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet (2015) 0.84
INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling. Cancer Cell Int (2009) 0.84
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. Horm Res Paediatr (2014) 0.83
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer (2006) 0.83
Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer. Oncogene (2005) 0.83
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. Am J Med Genet A (2010) 0.83
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol (2014) 0.83
Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk. Fertil Steril (2013) 0.82
Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells. Stem Cells Dev (2011) 0.82
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol (2009) 0.82
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Am J Med Genet A (2013) 0.82
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. Eur J Med Genet (2008) 0.82
Dispermic chimerism identified during blood group determination and HLA typing. Transfusion (2006) 0.82
Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib. Haematologica (2004) 0.81
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol (2008) 0.81
A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response. J Genet (2009) 0.81
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3). Sex Dev (2015) 0.81
Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res (2005) 0.81
Friedreich ataxia (FA) associated with diabetes mellitus type 1 and hyperthrophic cardiomyopathy. Bosn J Basic Med Sci (2009) 0.80
Molecular characterization of cystinuria in south-eastern European countries. Urolithiasis (2012) 0.80
Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium. Exp Biol Med (Maywood) (2005) 0.80
Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. Nephron Physiol (2014) 0.80
Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review. Hum Pathol (2011) 0.80
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. Prenat Diagn (2008) 0.80
Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer. Arch Dermatol Res (2004) 0.80
Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet (2013) 0.79
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes. J Genet (2011) 0.79
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. Am J Med Genet A (2007) 0.79
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. Am J Med Genet A (2004) 0.79
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet (2009) 0.79
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome. Prenat Diagn (2004) 0.78
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy. Prostate (2004) 0.78
Aseptic necrosis of both tali in a child with steroid-dependent nephrotic syndrome. Nephrol Dial Transplant (2006) 0.78
McCune-Albright syndrome (MAS): early and extensive bone fibrous dysplasia involvement and "mistaken identity" oophorectomy. J Pediatr Endocrinol Metab (2010) 0.78
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). Indian J Hum Genet (2011) 0.78
Game-based peripheral biofeedback for stress assessment in children. Pediatr Int (2009) 0.78
Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol (2011) 0.78
Obesity in childhood and adolescence, genetic factors. Prilozi (2013) 0.78
Vesicoureteral reflux and idiopathic hypercalciuria: an association by chance? Nephrol Dial Transplant (2004) 0.78