Published in Hum Mol Genet on April 01, 1992
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The molecular basis of genetic dominance. J Med Genet (1994) 2.39
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet (2002) 2.33
Imprinting in Albright's hereditary osteodystrophy. J Med Genet (1993) 2.30
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet (2001) 2.28
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Hereditary paraganglioma targets diverse paraganglia. J Med Genet (2002) 1.57
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Familial pheochromocytomas and paragangliomas. Mol Cell Endocrinol (2013) 0.83
Mutations of the SDHB and SDHD genes. Fam Cancer (2005) 0.80
Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. Am J Hum Genet (1998) 0.79
Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast. Antioxid Redox Signal (2015) 0.76
Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation. Head Neck (2009) 0.75
Genetic analysis for early diagnosis of otorhinolaryngeal diseases. GMS Curr Top Otorhinolaryngol Head Neck Surg (2010) 0.75
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Clinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation. Insights Imaging (2011) 0.75
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Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet (1994) 10.35
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science (2000) 8.64
Perspectives of identity by descent (IBD) mapping in founder populations. Clin Exp Allergy (1995) 8.16
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med (1996) 7.66
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Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med (1995) 6.73
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12
Micrometastases and survival in stage II colorectal cancer. N Engl J Med (1998) 5.11
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A (1997) 4.73
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet (1992) 3.76
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68
Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet (1995) 3.61
A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58
A new method to detect apoptosis in paraffin sections: in situ end-labeling of fragmented DNA. J Histochem Cytochem (1993) 3.41
KRAS codon 12 mutations occur very frequently in pancreatic adenocarcinomas. Nucleic Acids Res (1988) 3.31
Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. Am J Hum Genet (1999) 3.16
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron (2005) 2.82
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77
E-cadherin transcriptional downregulation by promoter methylation but not mutation is related to epithelial-to-mesenchymal transition in breast cancer cell lines. Br J Cancer (2006) 2.74
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology (2005) 2.69
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet (1990) 2.60
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology (2007) 2.51
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet (1989) 2.44
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J (1988) 2.44
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature (1993) 2.36
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet (1997) 2.27
Immunoglobulin containing cells in inflammatory bowel disease of the colon: a morphometric and immunohistochemical study. Gut (1980) 2.24
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett (2000) 2.24
FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet (1999) 2.23
The X chromosome shows less genetic variation at restriction sites than the autosomes. Am J Hum Genet (1986) 2.22
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet (1994) 2.19
Simultaneous loss of E-cadherin and catenins in invasive lobular breast cancer and lobular carcinoma in situ. J Pathol (1997) 2.15
Distinct genetic forms of frontotemporal dementia. Neurology (2008) 2.15
Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol (1992) 2.14
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet (1989) 2.11
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet (1995) 2.11
Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet (1993) 2.10
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
E-cadherin inactivation in lobular carcinoma in situ of the breast: an early event in tumorigenesis. Br J Cancer (1997) 2.02
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet (1997) 2.01
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet (1993) 2.01
The fragile X syndrome. J Med Genet (1998) 2.00
Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med (1994) 1.97
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
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Meta-analyses of genetic studies on major depressive disorder. Mol Psychiatry (2007) 1.93
ACE polymorphisms. Circ Res (2006) 1.92
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet (1984) 1.90
Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21. Cytogenet Cell Genet (1986) 1.90
Deletion loop mutagenesis: a novel method for the construction of point mutations using deletion mutants. Nucleic Acids Res (1982) 1.90
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet (1999) 1.87
An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms. Proc Natl Acad Sci U S A (1993) 1.83
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet (2001) 1.83
The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24. Hum Genet (1985) 1.82
Molecular genetic characterization of both components of a dedifferentiated chondrosarcoma, with implications for its histogenesis. J Pathol (1999) 1.81
Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q. Oncogene (1991) 1.81
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome. Epilepsia (2000) 1.80
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet (1987) 1.77
PCR artifacts in LOH and MSI analysis of microdissected tumor cells. Hum Pathol (2000) 1.77
Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet (1996) 1.76
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet (1999) 1.76
Familial aggregation in frontotemporal dementia. Neurology (1998) 1.76
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet (2001) 1.76
A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. Diabetes (2001) 1.76
Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet (1997) 1.74
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp Cell Res (2000) 1.73
Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals. Blood (1995) 1.71
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet (2001) 1.71
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet (1999) 1.70
CGG repeat in the FMR1 gene: size matters. Clin Genet (2011) 1.68
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet (1994) 1.68
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes. Cancer Res (1988) 1.67
Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population. Am J Med Genet (1996) 1.65
Sequence heterogeneity within the human alphoid repetitive DNA family. Nucleic Acids Res (1986) 1.65
DNA ploidy and survival in breast cancer patients. Cytometry (1987) 1.65
Estimation of growth rate in patients with head and neck paragangliomas influences the treatment proposal. Cancer (2000) 1.64