Published in Am J Med Genet A on August 01, 2007
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med (2012) 0.90
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. Cell Death Differ (2016) 0.75
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet (2017) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet (2006) 5.59
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
Sarcoma derived from cultured mesenchymal stem cells. Stem Cells (2006) 3.40
Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations. Science (2011) 3.29
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Osteosarcoma originates from mesenchymal stem cells in consequence of aneuploidization and genomic loss of Cdkn2. J Pathol (2009) 1.96
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study. J Pathol (2010) 1.91
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene. Cancer Genet Cytogenet (2004) 1.77
The carcinoma-stromal ratio of colon carcinoma is an independent factor for survival compared to lymph node status and tumor stage. Cell Oncol (2007) 1.61
Loss of p53 partially rescues embryonic development of Palb2 knockout mice but does not foster haploinsufficiency of Palb2 in tumour suppression. J Pathol (2011) 1.61
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Oncogenomic analysis of mycosis fungoides reveals major differences with Sezary syndrome. Blood (2008) 1.56
Novel and highly recurrent chromosomal alterations in Sézary syndrome. Cancer Res (2008) 1.51
Cutaneous anaplastic large cell lymphoma and peripheral T-cell lymphoma NOS show distinct chromosomal alterations and differential expression of chemokine receptors and apoptosis regulators. J Invest Dermatol (2009) 1.48
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A (2006) 1.40
Real-time monitoring of rolling-circle amplification using a modified molecular beacon design. Nucleic Acids Res (2002) 1.39
The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions. J Natl Cancer Inst (2007) 1.37
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A (2007) 1.31
Feeder-free derivation of induced pluripotent stem cells from human immature dental pulp stem cells. Cell Transplant (2011) 1.30
Insights from genomic microarrays into structural chromosome rearrangements. Am J Med Genet A (2005) 1.29
Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells. J Craniofac Surg (2008) 1.28
Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res (2012) 1.24
Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer. BMC Genomics (2007) 1.24
Genome-wide analysis of Ollier disease: Is it all in the genes? Orphanet J Rare Dis (2011) 1.24
Presence of a high amount of stroma and downregulation of SMAD4 predict for worse survival for stage I-II colon cancer patients. Cell Oncol (2009) 1.23
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med (2007) 1.21
Corneal reconstruction with tissue-engineered cell sheets composed of human immature dental pulp stem cells. Invest Ophthalmol Vis Sci (2009) 1.20
LSAMP, a novel candidate tumor suppressor gene in human osteosarcomas, identified by array comparative genomic hybridization. Genes Chromosomes Cancer (2009) 1.18
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet (2007) 1.18
In vitro differentiation of male mouse embryonic stem cells into both presumptive sperm cells and oocytes. Cloning Stem Cells (2007) 1.18
No genomic aberrations in Langerhans cell histiocytosis as assessed by diverse molecular technologies. Genes Chromosomes Cancer (2009) 1.18
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet (2006) 1.14
Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma. Am J Surg Pathol (2015) 1.13
Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. J Clin Oncol (2005) 1.12
Array comparative genomic hybridization with cyanin cis-platinum-labeled DNAs. Biotechniques (2004) 1.09
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. Am J Pathol (2010) 1.08
Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A (2007) 1.08
A common single-nucleotide variant in T is strongly associated with chordoma. Nat Genet (2012) 1.07
Anti-EGFR antibody cetuximab enhances the cytolytic activity of natural killer cells toward osteosarcoma. Clin Cancer Res (2011) 1.07
Germline copy number variations and cancer predisposition. Future Oncol (2012) 1.07
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell (2013) 1.06
Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGH. Nucleic Acids Res (2004) 1.05
Long-term culture of primary human lymphoblastic leukemia cells in the absence of serum or hematopoietic growth factors. Exp Hematol (2009) 1.02
Chromosomal instability in MYH- and APC-mutant adenomatous polyps. Cancer Res (2006) 1.02
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur J Med Genet (2011) 1.01
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. Am J Med Genet A (2011) 1.00
Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype. Mod Pathol (2004) 1.00
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A (2006) 1.00
Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. Am J Pathol (2009) 1.00
Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. Am J Med Genet A (2003) 0.99
Chemotherapy-resistant osteosarcoma is highly susceptible to IL-15-activated allogeneic and autologous NK cells. Cancer Immunol Immunother (2011) 0.99
Scaling-up of dental pulp stem cells isolated from multiple niches. PLoS One (2012) 0.98
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis (2013) 0.98
Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1. Int J Oncol (2011) 0.97
Clinical characteristics of a sample of patients with cat eye syndrome. Rev Assoc Med Bras (2010) 0.96
Evaluation of high-resolution microarray platforms for genomic profiling of bone tumours. BMC Res Notes (2010) 0.96
Waardenburg syndrome: clinical differentiation between types I and II. Am J Med Genet A (2003) 0.96
Expression analysis of candidate breast tumour suppressor genes on chromosome 16q. Breast Cancer Res (2005) 0.96
Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix. J Cell Mol Med (2009) 0.96
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med (2007) 0.95
Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation. Mutat Res (2005) 0.95
Genetic characterization of mesenchymal, clear cell, and dedifferentiated chondrosarcoma. Genes Chromosomes Cancer (2012) 0.95
Malignant fibrous histiocytoma and fibrosarcoma of bone: a re-assessment in the light of currently employed morphological, immunohistochemical and molecular approaches. Virchows Arch (2012) 0.95
Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids. PLoS One (2011) 0.94
Disruption of Drosophila Rad50 causes pupal lethality, the accumulation of DNA double-strand breaks and the induction of apoptosis in third instar larvae. DNA Repair (Amst) (2004) 0.94
Crotamine mediates gene delivery into cells through the binding to heparan sulfate proteoglycans. J Biol Chem (2007) 0.94
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia (2010) 0.93
New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients. Tissue Eng Part A (2009) 0.93
Small deletions but not methylation underlie CDKN2A/p16 loss of expression in conventional osteosarcoma. Genes Chromosomes Cancer (2010) 0.93
Properties of cell penetrating peptides (CPPs). IUBMB Life (2006) 0.93
Human dental pulp cells: a new source of cell therapy in a mouse model of compressive spinal cord injury. J Neurotrauma (2011) 0.91