Published in Genomics on April 01, 2001
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Expression quantitative trait loci detected in cell lines are often present in primary tissues. Hum Mol Genet (2009) 1.57
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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
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Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet (2001) 2.55
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet (2000) 2.38
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Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J Biol Chem (1999) 2.15
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X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res (1997) 2.06
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A (1998) 1.93
Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma. Nature (2000) 1.93
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet (1999) 1.87
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Data mining applied to linkage disequilibrium mapping. Am J Hum Genet (2000) 1.78
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A (1997) 1.77
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology (2000) 1.73
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics (1997) 1.70
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol (1999) 1.68
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int (2000) 1.65
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet (2000) 1.63
Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet (1998) 1.58
Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics (2000) 1.57
Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. Genomics (1999) 1.56
The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol (1992) 1.55
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet (1999) 1.55
p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. Proc Natl Acad Sci U S A (1999) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol (1999) 1.47
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
Patterns of matrix metalloproteinase and TIMP-1 expression in chronic and normally healing human cutaneous wounds. Br J Dermatol (1996) 1.44
DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience (2006) 1.42
Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. J Biol Chem (1996) 1.41
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics (1999) 1.40
Fine-needle aspiration biopsy allows early detection of acute rejection in children after renal transplantation. Transplantation (2001) 1.39
Phenylketonuria screening registry as a resource for population genetic studies. J Med Genet (2005) 1.38
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics (1997) 1.38
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Natural killer cell tolerance in mice with mosaic expression of major histocompatibility complex class I transgene. J Exp Med (1997) 1.38
Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. Arch Dis Child (1977) 1.37
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet (2001) 1.37
A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet (2001) 1.36
Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood (1998) 1.36
A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. J Med Genet (2003) 1.35
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett (1990) 1.35
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet (1992) 1.35
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics (1996) 1.33
A dominant gene for developmental dyslexia on chromosome 3. J Med Genet (2001) 1.33
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet (1994) 1.32
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics (2001) 1.30
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet (1999) 1.29
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Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet (2000) 1.29
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28
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Sequence analysis and chromosomal localization of human Cap Z. Conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families. J Biol Chem (1995) 1.27
Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability. Mol Cell Biol (2000) 1.27
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes (1999) 1.27
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet (2000) 1.27
Health-related quality of life after organ transplantation in childhood. Pediatr Transplant (1997) 1.26
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Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet (1997) 1.25
Elimination of S100B and renal function after cardiac surgery. J Cardiothorac Vasc Anesth (2000) 1.24
Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet (2004) 1.23
Gene mapping in isolated populations: new roles for old friends? Hum Hered (2000) 1.23
Autism spectrum disorder in the genetics clinic: a review. Clin Genet (2013) 1.22
Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. Genomics (1991) 1.21
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet (2000) 1.20
Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood (1997) 1.19
Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol (2000) 1.19
Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations. Oncogene (1999) 1.19