Published in Genes Chromosomes Cancer on July 01, 1997
Mixed germ cell sex cord-stromal tumors of the testis and ovary. Morphological, immunohistochemical, and molecular genetic study of seven cases. Virchows Arch (2006) 1.67
Promoter hypermethylation of MGMT, CDH1, RAR-beta and SYK tumour suppressor genes in granulosa cell tumours (GCTs) of ovarian origin. Br J Cancer (2004) 0.85
Spontaneous transformation of human granulosa cell tumours into an aggressive phenotype: a metastasis model cell line. BMC Cancer (2008) 0.81
Unclassified mixed germ cell-sex cord-stromal tumor with multiple malignant cellular elements in a young woman: a case report and review of the literature. Int J Clin Exp Pathol (2014) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet (1998) 7.68
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat (2000) 3.87
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet (2001) 3.82
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. J Med Genet (1992) 3.80
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet (2006) 3.70
Gain of chromosome arm 17q and adverse outcome in patients with neuroblastoma. N Engl J Med (1999) 3.03
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma. N Engl J Med (1996) 2.66
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med (2010) 2.55
The molecular genetics of Marfan syndrome and related disorders. J Med Genet (2006) 2.45
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med (2001) 2.34
Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol Psychiatry (2013) 2.25
Quality assessment of genetic markers used for therapy stratification. J Clin Oncol (2003) 1.92
MYCN/c-MYC-induced microRNAs repress coding gene networks associated with poor outcome in MYCN/c-MYC-activated tumors. Oncogene (2009) 1.90
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Octapeptide repeat insertions in the prion protein gene and early onset dementia. J Neurol Neurosurg Psychiatry (2004) 1.87
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.73
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord (2003) 1.70
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat (2004) 1.57
Immune reactions in benign and malignant melanocytic lesions: lessons for immunotherapy. Pigment Cell Melanoma Res (2010) 1.54
Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. Genes Dev (2001) 1.54
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genet Med (2001) 1.50
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. Mol Psychiatry (2002) 1.46
The neurotoxicity and safety of treatment with cefepime in patients with renal failure. Nephrol Dial Transplant (2008) 1.46
Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. Hum Mol Genet (1995) 1.45
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet (2008) 1.45
An integrative genomics screen uncovers ncRNA T-UCR functions in neuroblastoma tumours. Oncogene (2010) 1.43
Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome. Am J Med Genet A (2010) 1.43
Tropisetron in the prevention of nausea and vomiting in 131 children receiving cytotoxic chemotherapy. Med Pediatr Oncol (1995) 1.41
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet (2008) 1.41
Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders. Clin Exp Dermatol (1988) 1.38
Characteristic pattern of chromosomal gains and losses in Merkel cell carcinoma detected by comparative genomic hybridization. Cancer Res (1998) 1.35
Dominantly inherited cleft lip and palate. J Med Genet (1989) 1.35
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet (1998) 1.33
1;17 translocations and other chromosome 17 rearrangements in human primary neuroblastoma tumors and cell lines. Genes Chromosomes Cancer (1994) 1.31
Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol (1994) 1.25
Long-term results of three randomized trials (58831, 58832, 58881) in childhood acute lymphoblastic leukemia: a CLCG-EORTC report. Children Leukemia Cooperative Group. Leukemia (2000) 1.25
Pathogenesis of Paget's disease: epidermal heregulin-alpha, motility factor, and the HER receptor family. J Natl Cancer Inst (2000) 1.24
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics (1998) 1.24
Multicentre analysis of patterns of DNA gains and losses in 204 neuroblastoma tumors: how many genetic subgroups are there? Med Pediatr Oncol (2001) 1.23
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Hum Mutat (2003) 1.20
Genetic heterogeneity of neuroblastoma studied by comparative genomic hybridization. Genes Chromosomes Cancer (1998) 1.19
A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias. Leukemia (2005) 1.18
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet (2005) 1.18
Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet (1998) 1.17
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet (2000) 1.16
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet (1992) 1.16
Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. J Neurol Neurosurg Psychiatry (2003) 1.15
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet (2005) 1.15
Deletion mapping in neuroblastoma cell lines suggests two distinct tumor suppressor genes in the 1p35-36 region, only one of which is associated with N-myc amplification. Oncogene (1995) 1.13
Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. Hum Genet (1988) 1.13
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet (2006) 1.12
Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma reveals high frequency of 11q deletion in tumors lacking MYCN amplification. Int J Cancer (2001) 1.10
The question of heterogeneity in Marfan syndrome. Nat Genet (1995) 1.10
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet (2007) 1.09
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain (2001) 1.08
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Hum Mol Genet (2000) 1.08
1p36: every subband a suppressor? Eur J Cancer (1995) 1.05
The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. Am J Hum Genet (1999) 1.05
Treatment of localised resectable neuroblastoma. Results of the LNESG1 study by the SIOP Europe Neuroblastoma Group. Br J Cancer (2008) 1.05
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. J Med Genet (1991) 1.03
Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia. Genes Chromosomes Cancer (2001) 1.03
The genetic basis of the joint hypermobility syndromes. Rheumatology (Oxford) (2006) 1.03
Oral manifestations of patients with Marfan syndrome: a case-control study. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2002) 1.02
Malignant melanoma of the soft parts (clear-cell sarcoma): confirmation of EWS and ATF-1 gene fusion caused by a t(12;22) translocation. Mod Pathol (1997) 1.02
Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis. Am J Pathol (1996) 1.02
Ultradeformable cationic liposomes for delivery of small interfering RNA (siRNA) into human primary melanocytes. J Control Release (2008) 1.02
Cutaneous short-interfering RNA therapy. Expert Opin Drug Deliv (2009) 1.00
Mutation analysis of P73 and TP53 in Merkel cell carcinoma. Br J Cancer (2000) 1.00
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum Genet (1998) 0.99
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. J Appl Genet (2009) 0.99
Molecular nosology of heritable disorders of connective tissue. Am J Med Genet (1992) 0.98
The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation. J Med Genet (2004) 0.98
The new Ghent criteria for Marfan syndrome: what do they change? Clin Genet (2011) 0.98
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet (2000) 0.97
Expression of the MDR1 gene product P-glycoprotein in childhood neuroblastoma. Cancer (1997) 0.97
Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCRbeta locus rearrangements and putative new T-cell oncogenes. Leukemia (2006) 0.96
Growth stimulatory angiotensin II type-1 receptor is upregulated in breast hyperplasia and in situ carcinoma but not in invasive carcinoma. Histochem Cell Biol (2001) 0.95
Triple colour fluorescent in-situ hybridization for chromosomes X,Y and 1 on spare human embryos. Hum Reprod (1997) 0.95
Analysis of 1;17 translocation breakpoints in neuroblastoma: implications for mapping of neuroblastoma genes. Eur J Cancer (1997) 0.94
Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines. Genes Chromosomes Cancer (2001) 0.94
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. Hum Genet (1992) 0.93