Published in Hum Mutat on January 01, 1998
Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion. J Mol Diagn (2009) 0.98
Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet (2007) 0.90
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. J Mol Diagn (2007) 0.80
Cystic fibrosis testing comes of age. J Mol Diagn (2009) 0.79
Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis. World J Clin Cases (2014) 0.75
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A (1990) 4.74
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 4.27
Crystal structure of the RNA-dependent RNA polymerase of hepatitis C virus. Proc Natl Acad Sci U S A (1999) 3.77
Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet (1992) 2.48
Glucocorticoid receptor alpha and beta in glucocorticoid dependent asthma. Am J Respir Crit Care Med (2000) 2.36
Clinical significance of Scedosporium apiospermum in patients with cystic fibrosis. Eur J Clin Microbiol Infect Dis (2000) 2.17
Specific binding sites in the alcR and alcA promoters of the ethanol regulon for the CREA repressor mediating carbon catabolite repression in Aspergillus nidulans. Mol Microbiol (1993) 2.13
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 2.07
Dengue virus type 1 nonstructural glycoprotein NS1 is secreted from mammalian cells as a soluble hexamer in a glycosylation-dependent fashion. J Virol (1999) 2.07
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta (1998) 1.81
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nat Genet (1995) 1.60
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59
Structure of the Sec7 domain of the Arf exchange factor ARNO. Nature (1998) 1.57
Crystal structure of enoyl-coenzyme A (CoA) hydratase at 2.5 angstroms resolution: a spiral fold defines the CoA-binding pocket. EMBO J (1996) 1.55
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet (1999) 1.53
Homogentisic acid determined in biological fluids by HPLC. Clin Chem (1989) 1.50
Cell cycle-dependent recruitment of HDAC-1 correlates with deacetylation of histone H4 on an Rb-E2F target promoter. EMBO Rep (2001) 1.47
Gene transfer to human rheumatoid synovial tissue engrafted in SCID mice. J Rheumatol (1997) 1.43
[Home chemotherapy for lung cancer: a five year retrospective study]. Rev Mal Respir (2003) 1.40
Production of elastase, exotoxin A, and alkaline protease in sputa during pulmonary exacerbation of cystic fibrosis in patients chronically infected by Pseudomonas aeruginosa. J Clin Microbiol (1995) 1.40
Environmental regulation of Bacillus subtilis sigma(D)-dependent gene expression. J Bacteriol (2000) 1.39
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet (2009) 1.38
Structural basis for human monoglyceride lipase inhibition. J Mol Biol (2009) 1.32
Chronic airway colonization by Penicillium emersonii in a patient with cystic fibrosis. Med Mycol (1999) 1.28
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat (2000) 1.27
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta (1993) 1.24
N-terminal arm exchange is observed in the 2.15 A crystal structure of oxidized nitrite reductase from Pseudomonas aeruginosa. Structure (1997) 1.14
Regulation of alcR, the positive regulatory gene of the ethanol utilization regulon of Aspergillus nidulans. Mol Microbiol (1987) 1.09
[Organization and computerization of a cell bank (proceedings)]. Ann Biol Clin (Paris) (1978) 1.07
Identification of the promoter region involved in the autoregulation of the transcriptional activator ALCR in Aspergillus nidulans. Mol Cell Biol (1992) 1.06
[Biological diagnosis of hereditary metabolic diseases. From selective screening to the mutant-cell bank]. Ann Biol Clin (Paris) (1988) 1.06
Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of skeletal muscle cytoarchitecture. Dev Biol (1999) 1.05
International Federation of Clinical Chemistry, Scientific Division Committee on Enzymes: approved recommendation on IFCC methods for the measurement of catalytic concentration of enzymes. Part 7. IFCC method for creatine kinase (ATP: creatine N-phosphotransferase, EC 2.7.3.2). Eur J Clin Chem Clin Biochem (1991) 1.05
Dystonin is essential for maintaining neuronal cytoskeleton organization. Mol Cell Neurosci (1998) 1.04
Antibody inhibition of the transcriptase activity of the rotavirus DLP: a structural view. J Mol Biol (2001) 1.03
Specific binding sites for the activator protein, ALCR, in the alcA promoter of the ethanol regulon of Aspergillus nidulans. J Biol Chem (1992) 1.01
[Total Condylar arthroplasty of the knee (author's transl)]. Chirurgie (1981) 1.01
Use of a synthetic peptide antigen to generate antisera reactive with a proteolytic processing site in native human proinsulin: demonstration of cleavage within clathrin-coated (pro)secretory vesicles. Proc Natl Acad Sci U S A (1987) 1.01
Partial splenectomy--worth the risk. Arch Dis Child (2003) 1.01
The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis (1987) 1.00
SHOX point mutations in dyschondrosteosis. J Med Genet (2001) 1.00
Imaging changes in the pancreas in cystic fibrosis: a retrospective evaluation of 55 cases seen over a period of 9 years. J Pediatr Gastroenterol Nutr (2000) 0.99
The crystal structures of TrkA and TrkB suggest key regions for achieving selective inhibition. J Mol Biol (2012) 0.99
Crystallization and preliminary X-Ray analysis of rotavirus protein VP6. J Virol (1998) 0.98
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. J Med Genet (2010) 0.98
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Eur J Pediatr (1993) 0.98
Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins. Genomics (1996) 0.97
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes (1996) 0.97
Mutation analysis in 600 French cystic fibrosis patients. J Med Genet (1994) 0.97
Protein engineering with monomeric triosephosphate isomerase (monoTIM): the modelling and structure verification of a seven-residue loop. Protein Eng (1997) 0.97
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. Hum Mutat (1996) 0.97
Storage metabolism in the Pacific oyster (Crassostrea gigas) in relation to summer mortalities and reproductive cycle (west coast of France). Comp Biochem Physiol B Biochem Mol Biol (2000) 0.96
Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice. Mol Cell Neurosci (1995) 0.96
Cloning and characterization of the neural isoforms of human dystonin. Genomics (1995) 0.96
Correct intron splicing generates a new type of a putative zinc-binding domain in a transcriptional activator of Aspergillus nidulans. FEBS Lett (1991) 0.96
Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn (1996) 0.96
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol (2010) 0.95
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Hum Genet (2013) 0.94
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet (2009) 0.93
The ethanol regulon in Aspergillus nidulans: characterization and sequence of the positive regulatory gene alcR. Gene (1988) 0.93
[Heterogeneity of glycogenosis type VI. Study of leukocyte phosphorylase activity in 2 families]. Arch Fr Pediatr (1972) 0.93
Cystic fibrosis and portal hypertension interest of partial splenectomy. Eur J Pediatr Surg (1993) 0.93
The use of peritoneoscopy in the detection of liver metastases. Cancer (1978) 0.93
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations. Hum Mol Genet (1993) 0.92
A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nat Genet (1994) 0.92
[Proteins of bronchial secretions in mucoviscidosis. Role of infection]. Bull Eur Physiopathol Respir (1984) 0.91
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. J Inherit Metab Dis (1993) 0.91
Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects. J Inherit Metab Dis (1999) 0.90
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). Am J Hum Genet (1993) 0.90
Transcriptional potencies of inhaled glucocorticoids. Am J Respir Crit Care Med (2000) 0.90
Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination. Development (1998) 0.90
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am J Hum Genet (1999) 0.89
Complexation of two proteic insect inhibitors to the active site of chymotrypsin suggests decoupled roles for binding and selectivity. J Biol Chem (2001) 0.89
First trimester prenatal diagnosis of glycogen storage disease type III. J Inherit Metab Dis (1989) 0.88
The crystal structure of human CskSH3: structural diversity near the RT-Src and n-Src loop. FEBS Lett (1994) 0.88
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation. J Inherit Metab Dis (1995) 0.88
Hunter syndrome: gene deletions and rearrangements. Hum Mutat (1993) 0.88
Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC. Clin Chim Acta (1990) 0.88
Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. Pediatr Res (1990) 0.87
Structured learning in teaching therapists social skills training: acquisition, maintenance, and impact on client outcome. J Consult Clin Psychol (1980) 0.87
Mucopolysaccharidosis type II--genotype/phenotype aspects. Acta Paediatr Suppl (2002) 0.87
Effects of ursodeoxycholic acid on liver function in patients with cystic fibrosis and chronic cholestasis. J Pediatr (1992) 0.87
[Our experience of 2 years oferythrocyte enzymology in pediatrics. Apropos of 250 cases]. Ann Biol Clin (Paris) (1968) 0.87
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am J Hum Genet (1992) 0.86
Improvement of cystic fibrosis airway mucus transportability by recombinant human DNase is related to changes in phospholipid profile. Am J Respir Crit Care Med (1998) 0.86
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet (1998) 0.86
Effects of five natural gonadotropin-releasing hormones on cell suspensions of marine bivalve gonad: stimulation of gonial DNA synthesis. Gen Comp Endocrinol (1999) 0.86
[Accidents caused by arteritis after fracture or tibial osteotomy]. Rev Chir Orthop Reparatrice Appar Mot (1987) 0.86
Pain after total hip arthroplasty: a psychiatric point of view. Int Orthop (2007) 0.86
Regulation of the aldehyde dehydrogenase gene (aldA) and its role in the control of the coinducer level necessary for induction of the ethanol utilization pathway in Aspergillus nidulans. J Biol Chem (2000) 0.86
[Chronic diarrhea due to pancreatic lipase deficiency]. Pediatrie (1970) 0.85
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone. Hum Genet (1999) 0.85
Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples. Clin Chim Acta (1993) 0.85
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient. Hum Mutat (1996) 0.85