Published in Clin Genet on June 01, 2004
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Genotype-phenotype correlation for pulmonary function in cystic fibrosis. Thorax (2005) 1.02
Assessing the Disease-Liability of Mutations in CFTR. Cold Spring Harb Perspect Med (2012) 0.96
Prevalence of bronchiectasis in asthma according to oral steroid requirement: influence of immunoglobulin levels. Biomed Res Int (2013) 0.83
Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population. World J Gastroenterol (2008) 0.82
Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study. Respir Res (2005) 0.82
Precision Genomic Medicine in Cystic Fibrosis. Clin Transl Sci (2015) 0.80
Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children. Pediatr Allergy Immunol Pulmonol (2013) 0.76
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. Eur J Hum Genet (2010) 0.75
Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3. Mol Med (2016) 0.75
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet (1998) 5.24
The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet (1994) 4.94
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet (2000) 4.63
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet (1997) 3.39
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet (2000) 2.93
Risk factors and response to antibiotic therapy in adults with bacteremic pneumonia caused by penicillin-resistant pneumococci. N Engl J Med (1987) 2.78
RNA secondary structure repression of a muscle-specific exon in HeLa cell nuclear extracts. Science (1991) 2.45
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet (2001) 2.24
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet (2000) 2.20
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. Nucleic Acids Res (1987) 2.16
Relationship between bacterial flora in sputum and functional impairment in patients with acute exacerbations of COPD. Study Group of Bacterial Infection in COPD. Chest (1999) 2.08
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet (1999) 2.05
Neurological assessment of high grade astrocytomas following high dose radiotherapy as sole treatment. Clin Oncol (R Coll Radiol) (1995) 2.04
The value of routine microbial investigation in ventilator-associated pneumonia. Am J Respir Crit Care Med (1997) 2.03
Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes. Anal Biochem (1995) 2.01
Effects of antibiotics on protected specimen brush sampling in ventilator-associated pneumonia. Eur Respir J (2002) 2.00
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology (1995) 1.97
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum Mol Genet (2000) 1.84
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet (2001) 1.78
Indirect cystic fibrosis carrier detection. Lancet (1987) 1.76
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell (2001) 1.75
Hyperproduction of alpha-toxin by Staphylococcus aureus results in paradoxically reduced virulence in experimental endocarditis: a host defense role for platelet microbicidal proteins. Infect Immun (1997) 1.72
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum Mol Genet (1995) 1.68
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. Genomics (1997) 1.68
Imipenem-cilastatin therapy in a child with meningitis caused by a multiply resistant pneumococcus. Pediatr Infect Dis J (1989) 1.67
Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J (1988) 1.67
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet (1999) 1.65
Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med (1994) 1.63
Risk factors for nosocomial Legionella pneumophila pneumonia. Am J Respir Crit Care Med (1994) 1.61
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum Mol Genet (1996) 1.60
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet (2003) 1.59
Detection of allergen composition and in vivo immunogenicity of depigmented allergoids of Betula alba. Clin Exp Allergy (2008) 1.56
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet (1997) 1.55
Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. Genomics (1999) 1.55
Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging. Brain Res Mol Brain Res (1997) 1.53
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat (2000) 1.49
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet (2000) 1.48
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod (2000) 1.47
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics (1991) 1.46
[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis]. Med Clin (Barc) (1997) 1.44
A patient with autistic disorder and a 20/22 chromosomal translocation. Dev Med Child Neurol (1998) 1.41
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet (1999) 1.41
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Res (2000) 1.40
[Intolerance to hydroxychloroquine marketed in Spain (Dolquine) in patients with autoimmune conditions]. Rev Clin Esp (2004) 1.40
[Consensus meeting on selective biopsy of the sentinel node in breast cancer. Spanish Society of Senology and Breast Disease]. Rev Esp Med Nucl (2007) 1.39
Experience with new DNA markers for the diagnosis of cystic fibrosis. N Engl J Med (1988) 1.37
Leishmania tropica in Morocco: infection in dogs. Trans R Soc Trop Med Hyg (1992) 1.37
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Hum Mol Genet (1993) 1.31
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet (1996) 1.31
Etiology, reasons for hospitalization, risk classes, and outcomes of community-acquired pneumonia in patients hospitalized on the basis of conventional admission criteria. Clin Infect Dis (2001) 1.30
Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells. Mol Cell Biol (1998) 1.30
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet (1993) 1.29
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet (1995) 1.29
[Leishmania tropica in Morocco. III--The vector of Phlebotomus sergenti. Apropos of 89 isolates]. Ann Parasitol Hum Comp (1991) 1.27
Intronic sequence with both negative and positive effects on the regulation of alternative transcripts of the chicken beta tropomyosin transcripts. Nucleic Acids Res (1992) 1.27
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol (1996) 1.24
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am J Hum Genet (1999) 1.23
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. J Med Genet (2005) 1.21
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet (1993) 1.21
Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psychiatry (2007) 1.19
Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment. Cereb Cortex (2003) 1.18
Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem (1993) 1.18
Prospective study of the usefulness of sputum Gram stain in the initial approach to community-acquired pneumonia requiring hospitalization. Clin Infect Dis (2000) 1.18
Usefulness of PCR and antigen latex agglutination test with samples obtained by transthoracic needle aspiration for diagnosis of pneumococcal pneumonia. J Clin Microbiol (1999) 1.17
Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res (2001) 1.17
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome Res (1999) 1.16
Reversible protein phosphorylation regulates circadian rhythms. Cold Spring Harb Symp Quant Biol (2007) 1.15
Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13). Hum Genet (1986) 1.14
[Leishmania tropica in Morocco. IV--Intrafocal enzyme diversity]. Ann Parasitol Hum Comp (1991) 1.14
Community-acquired pneumonia in chronic obstructive pulmonary disease: a Spanish multicenter study. Am J Respir Crit Care Med (1996) 1.14
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat (1999) 1.13
Protected bronchoalveolar lavage in the diagnosis of ventilator-associated pneumonia. Eur Respir J (1996) 1.13
Diagnostic potential of Western blot analysis of sera from dogs with leishmaniasis in endemic areas and significance of the pattern. Am J Trop Med Hyg (1998) 1.13
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet (2001) 1.13
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet (1995) 1.12
Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis. FEBS Lett (2000) 1.12
Leishmania infantum-specific IgG, IgG1 and IgG2 antibody responses in healthy and ill dogs from endemic areas. Evolution in the course of infection and after treatment. Vet Parasitol (2001) 1.11
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry (2009) 1.11
Influence of pneumococcal serotype group on outcome in adults with bacteraemic pneumonia. Eur Respir J (2010) 1.11
PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks. Oncogene (2001) 1.11
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics (2007) 1.11
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet (1993) 1.11
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene. Hum Genet (1994) 1.11
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet (2013) 1.10
Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity. Behav Neurosci (2004) 1.10
Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases. Biochem Biophys Res Commun (1999) 1.10
Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type. Mol Psychiatry (2003) 1.09
Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction. Neurobiol Dis (2004) 1.09
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet (1999) 1.08