Published in Nephrol Dial Transplant on April 13, 2009
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Medullary sponge kidney and isolated hemihyperplasia. Indian J Nephrol (2014) 0.79
Hypokalemic paralysis associated with cystic disease of the kidney: case report. BMC Nephrol (2011) 0.75
MSK and dRTA: a puzzling association. Nephrol Dial Transplant (2010) 0.75
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. Cancer Res (2007) 3.19
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood (2013) 2.27
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet (2003) 2.25
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med (2014) 1.89
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation. Eur Heart J (2006) 1.82
XX males SRY negative: a confirmed cause of infertility. J Med Genet (2011) 1.75
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet (2006) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2010) 1.53
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation. Blood (2012) 1.48
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. J Med Genet (2007) 1.45
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. Genome Res (2003) 1.44
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case. Hum Pathol (2011) 1.40
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet (2010) 1.36
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat (2008) 1.34
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet (2008) 1.27
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet (2008) 1.20
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet (2008) 1.19
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. Gynecol Oncol (2002) 1.19
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur J Hum Genet (2006) 1.18
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet (2008) 1.16
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Hum Mutat (2007) 1.14
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod (2006) 1.14
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat (2007) 1.14
Reciprocal translocations: a trap for cytogenetists? Hum Genet (2005) 1.12
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. Blood (2011) 1.12
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet (2008) 1.11
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics (2009) 1.08
The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat (2012) 1.07
A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer (2009) 1.07
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis (2013) 1.06
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. Exp Hematol (2009) 1.06
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol (2009) 1.05
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. Cancer Biomark (2006) 1.04
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn (2011) 1.03
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. Hum Pathol (2011) 1.02
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Hum Genet (2010) 1.02
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers. Eur J Cancer (2005) 1.02
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet (2007) 1.01
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain (2013) 1.00
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet (2010) 1.00
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet (2012) 1.00
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome. Am J Kidney Dis (2007) 0.99
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet (2007) 0.99
Hand function in children with hemiplegic cerebral palsy: prospective follow-up and functional outcome in adolescence. Dev Med Child Neurol (2003) 0.99
Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet A (2003) 0.98
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum Mutat (2010) 0.97
The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A (2013) 0.97
Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet (2012) 0.97
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol (2012) 0.97
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A (2005) 0.97
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. Eur J Hum Genet (2012) 0.96
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat (2011) 0.96
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker. Blood (2009) 0.96
Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. Am J Gastroenterol (2005) 0.95
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet (2008) 0.95