Published in Clin Genet on December 13, 2011
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis (2012) 0.81
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PLoS One (2015) 0.79
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PLoS One (2013) 0.76
Breast tumor cell lines from pleural effusions. J Natl Cancer Inst (1974) 5.39
Long-term human breast carcinoma cell lines of metastatic origin: preliminary characterization. In Vitro (1978) 4.67
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
The Clinical Global Impression-Schizophrenia scale: a simple instrument to measure the diversity of symptoms present in schizophrenia. Acta Psychiatr Scand Suppl (2003) 2.63
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) 2.05
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. Am J Hum Genet (1989) 1.97
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer (2004) 1.73
Structure and polymorphism in lipid-water systems, and their possible biological implications. Ann N Y Acad Sci (1966) 1.71
Structure of the cubic phases of lipid-water systems. Nature (1968) 1.67
A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn (1984) 1.67
Segregation analysis of balanced pericentric inversions in pedigree data. Clin Genet (1986) 1.65
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
[Structure and polymorphism of lipids: x-ray diffraction study of the system formed from beef heart mitochondria lipids and water]. J Mol Biol (1967) 1.51
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
Distinct muscle imaging patterns in myofibrillar myopathies. Neurology (2008) 1.41
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
[Pain management in elderly people in primary care (ADA Study)]. Rev Clin Esp (2007) 1.38
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet (1998) 1.36
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat (2001) 1.36
Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet (1999) 1.31
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet (2003) 1.31
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet (2006) 1.27
Impact of CYP2D6 polymorphisms in tamoxifen adjuvant breast cancer treatment. Breast Cancer Res Treat (2009) 1.25
A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord (2008) 1.20
The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet (1985) 1.19
Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer (2008) 1.19
Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord (2006) 1.17
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22). Nucleic Acids Res (1983) 1.17
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics (1997) 1.16
A genotype-directed phase I-IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer. Br J Cancer (2011) 1.15
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy? Cancer Chemother Pharmacol (2005) 1.13
Molecular characterization of acute myeloblastic leukemia according to the new WHO classification: a different distribution in Central-West Spain. Haematologica (2001) 1.12
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet (1997) 1.10
Overexpression of TMPRSS4 in non-small cell lung cancer is associated with poor prognosis in patients with squamous histology. Br J Cancer (2011) 1.09
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. Clin Genet (2005) 1.09
Meiotic drive at the myotonic dystrophy locus. J Med Genet (1994) 1.08
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 1.07
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet (1995) 1.07
ATP-dependent potassium channel blockade strengthens microglial neuroprotection after hypoxia-ischemia in rats. Exp Neurol (2012) 1.06
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet (2007) 1.05
Thickness measurements of single walled dimyristoyl phosphatidylcholine vesicles by neutron scattering. Chem Phys Lipids (1990) 1.04
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. J Med Genet (2003) 1.04
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci U S A (1982) 1.02
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet (1995) 1.02
Use of gel chromatography for determination of size and molecular weight of proteins: further caution. Anal Biochem (1980) 1.01
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
Lipid polymorphism: a correction. The structure of the cubic phase of extinction symbol Fd-- consists of two types of disjointed reverse micelles embedded in a three-dimensional hydrocarbon matrix. Biochemistry (1992) 0.99
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet (2001) 0.98
Sex-related difference in intergenerational expansion of myotonic dystrophy gene. Lancet (1993) 0.98
Partial dehydration of phosphatidylethanolamine phosphate groups during hexagonal phase formation, as seen by i.r. spectroscopy. Biochem J (1992) 0.97
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet (2000) 0.97
Diacylglycerol and the promotion of lamellar-hexagonal and lamellar-isotropic phase transitions in lipids: implications for membrane fusion. Biophys J (1996) 0.97
In vivo and in vitro effects of (p)ppGpp on the sigma(54) promoter Pu of the TOL plasmid of Pseudomonas putida. J Bacteriol (2000) 0.97
Seroprevalence of Echinococcus granulosus infection in a Uruguayan rural human population. Trans R Soc Trop Med Hyg (1992) 0.97
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet (1988) 0.97
Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br J Cancer (1999) 0.96
Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Neurology (2004) 0.96
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology (2000) 0.95
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol (2005) 0.95
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet (2000) 0.94
Osmotic strength blocks sporulation at stage II by impeding activation of early sigma factors in Bacillus subtilis. Curr Microbiol (1998) 0.94
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology (2004) 0.94
Transforming growth factor-alpha immunoreactivity in the developing and adult brain. Neuroscience (1995) 0.94
Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology (2007) 0.93
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat (2001) 0.92
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Eur J Hum Genet (1999) 0.91
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet (2008) 0.91
Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology (2001) 0.91
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. Eur J Neurol (2010) 0.91
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet (1993) 0.90
Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors. Cancer (2001) 0.90
BRCA2 germ-line mutations in Spanish male breast cancer patients. Ann Oncol (2000) 0.90
Biochemical and biophysical studies of Bacillus subtilis envelopes under hyperosmotic stress. Int J Food Microbiol (2000) 0.90
Expansion of the myotonic dystrophy gene in Italian and Spanish patients. J Med Genet (1992) 0.90
The 3' ends of the deletions of Spanish delta beta zero-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. Blood (1987) 0.90
Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics. J Med Genet (2003) 0.90
The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1). Hum Genet (1986) 0.90
DMD carrier detection in a female with mosaic Turner's syndrome. J Med Genet (1991) 0.90
Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet (1998) 0.89
Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European Collaborative Prenatal Diagnosis Centres. Prenat Diagn (1986) 0.89
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations. Hum Genet (1989) 0.89
Tissue activity and cellular localization of human semicarbazide-sensitive amine oxidase. J Histochem Cytochem (2001) 0.89
Transforming growth factor-alpha (TGF-alpha) and epidermal growth factor-receptor (EGF-R) immunoreactivity in normal and pathologic brain. Prog Neurobiol (1996) 0.88
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet (2010) 0.88
Initial bacterial colonization in patients admitted to a respiratory intensive care unit: bacteriological pattern and risk factors. Respiration (2001) 0.88
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenomics J (2012) 0.87
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet (1994) 0.87
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats. Am J Med Genet (1996) 0.87
In vivo neuroprotective adaptation of the glutamate/glutamine cycle to neuronal death. Hippocampus (2004) 0.87
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. J Proteomics (2013) 0.87
[Interest in the study of genetic variants of the promoter region of the UGT1A1 gene in neonatal jaundice]. An Esp Pediatr (2002) 0.86
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene. Haemophilia (2008) 0.86