The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

PubWeight™: 6.23‹?› | Rank: Top 1%

🔗 View Article (PMID 9988267)

Published in Nat Genet on February 01, 1999

Authors

N Draptchinskaia1, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson, D Tentler, N Mohandas, B Carlsson, N Dahl

Author Affiliations

1: Department of Genetics and Pathology, Uppsala University, Sweden.

Associated clinical trials:

Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia (ACE-011-DBA) | NCT01464164

A Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia (LeucineDBA) | NCT01362595

Articles citing this

(truncated to the top 100)

Dindel: accurate indel calls from short-read data. Genome Res (2010) 8.62

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature (2008) 8.38

Ribosomopathies: human disorders of ribosome dysfunction. Blood (2010) 4.43

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol (2008) 4.41

Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition. Mol Cell Biol (2004) 4.08

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet (2008) 4.02

Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol (2004) 3.99

Signaling to p53: ribosomal proteins find their way. Cancer Cell (2009) 3.84

MYC as a regulator of ribosome biogenesis and protein synthesis. Nat Rev Cancer (2010) 3.64

How common are extraribosomal functions of ribosomal proteins? Mol Cell (2009) 3.51

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet (2008) 3.29

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet (2006) 3.17

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood (2008) 3.05

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction. Nat Cell Biol (2009) 2.97

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. Nat Med (2009) 2.89

The many facets of H/ACA ribonucleoproteins. Chromosoma (2005) 2.89

Identification and analysis of over 2000 ribosomal protein pseudogenes in the human genome. Genome Res (2002) 2.88

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood (2010) 2.84

Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute. Development (2004) 2.54

Nucleolus, ribosomes, and cancer. Am J Pathol (2008) 2.53

Telomeres: a diagnosis at the end of the chromosomes. J Med Genet (2003) 2.52

The ribosomal protein genes and Minute loci of Drosophila melanogaster. Genome Biol (2007) 2.40

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood (2006) 2.22

Powering through ribosome assembly. RNA (2009) 2.19

Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood (2006) 2.16

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest (2012) 2.15

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet (2010) 2.05

The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Genome Res (2002) 2.03

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat (2010) 2.03

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia. Blood (2010) 1.88

Ribosomal protein S6 gene haploinsufficiency is associated with activation of a p53-dependent checkpoint during gastrulation. Mol Cell Biol (2006) 1.86

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol (2004) 1.85

Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response. Genes Dev (2005) 1.84

Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes. Br J Haematol (2008) 1.83

The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA (2008) 1.81

An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. Blood (2005) 1.81

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet (2009) 1.78

MDMX regulation of p53 response to ribosomal stress. EMBO J (2006) 1.77

Crosstalk between c-Myc and ribosome in ribosomal biogenesis and cancer. J Cell Biochem (2008) 1.77

When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst (2010) 1.76

Translational control in cancer etiology. Cold Spring Harb Perspect Biol (2013) 1.71

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat (2012) 1.64

Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations. Proc Natl Acad Sci U S A (2008) 1.63

L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. Blood (2012) 1.61

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. J Cell Biol (2010) 1.58

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57

Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood (2011) 1.57

The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev (2007) 1.56

Gene expression analysis of zebrafish melanocytes, iridophores, and retinal pigmented epithelium reveals indicators of biological function and developmental origin. PLoS One (2013) 1.54

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am (2009) 1.52

BMS1 is mutated in aplasia cutis congenita. PLoS Genet (2013) 1.50

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. PLoS Genet (2013) 1.50

Genomic architecture and inheritance of human ribosomal RNA gene clusters. Genome Res (2007) 1.48

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells (2006) 1.46

Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint. Genes Dev (2012) 1.44

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

The p53 tumor suppressor causes congenital malformations in Rpl24-deficient mice and promotes their survival. Mol Cell Biol (2009) 1.40

Translational control in cellular and developmental processes. Nat Rev Genet (2012) 1.39

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet (2013) 1.39

The cancerous translation apparatus. Curr Opin Genet Dev (2011) 1.38

5S ribosomal RNA is an essential component of a nascent ribosomal precursor complex that regulates the Hdm2-p53 checkpoint. Cell Rep (2013) 1.37

Loss of ribosomal protein L11 affects zebrafish embryonic development through a p53-dependent apoptotic response. PLoS One (2009) 1.36

The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes. Nat Rev Cancer (2012) 1.27

Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res (2007) 1.27

How I treat Diamond-Blackfan anemia. Blood (2010) 1.27

Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish. Dev Dyn (2009) 1.27

Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing. Nat Struct Mol Biol (2008) 1.26

Ribosomal protein gene knockdown causes developmental defects in zebrafish. PLoS One (2006) 1.24

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development. Development (2012) 1.22

Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. Curr Opin Pediatr (2010) 1.22

Ribosomal protein S14 unties the MDM2-p53 loop upon ribosomal stress. Oncogene (2012) 1.19

Structural consequences of nucleophosmin mutations in acute myeloid leukemia. J Biol Chem (2008) 1.18

The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA. Nucleic Acids Res (2010) 1.17

The p53 pathway in hematopoiesis: lessons from mouse models, implications for humans. Blood (2012) 1.16

Degradation of mRNAs that lack a stop codon: a decade of nonstop progress. Wiley Interdiscip Rev RNA (2012) 1.16

Silencing of ribosomal protein S9 elicits a multitude of cellular responses inhibiting the growth of cancer cells subsequent to p53 activation. PLoS One (2010) 1.16

Eukaryotic protein synthesis inhibitors identified by comparison of cytotoxicity profiles. RNA (2004) 1.15

Nucleolar adaptation in human cancer. Cancer Invest (2005) 1.13

Mitochondria: impaired mitochondrial translation in human disease. Int J Biochem Cell Biol (2014) 1.13

Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. Cell Death Dis (2012) 1.12

Control of hematopoietic stem cell emergence by antagonistic functions of ribosomal protein paralogs. Dev Cell (2013) 1.11

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation. Exp Hematol (2011) 1.11

Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects. Br J Haematol (2010) 1.10

The other lives of ribosomal proteins. Hum Genomics (2010) 1.10

Inherited bone marrow failure syndromes. Haematologica (2010) 1.09

p53-independent apoptosis limits DNA damage-induced aneuploidy. Genetics (2009) 1.09

Pathogenesis of the erythroid failure in Diamond Blackfan anaemia. Br J Haematol (2009) 1.08

Genetic analysis of RpL38 and RpL5, two minute genes located in the centric heterochromatin of chromosome 2 of Drosophila melanogaster. Genetics (2004) 1.08

Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. Blood (2011) 1.08

Genomic characterization of the inherited bone marrow failure syndromes. Semin Hematol (2013) 1.07

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. Haematologica (2010) 1.07

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. Semin Hematol (2011) 1.06

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome. Blood (2011) 1.05

Molecular dissection of the 5q deletion in myelodysplastic syndrome. Semin Oncol (2011) 1.05

Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. Eur J Hum Genet (2013) 1.05

Ribosome defects in disorders of erythropoiesis. Int J Hematol (2011) 1.03

Potential therapeutic targets for chordoma: PI3K/AKT/TSC1/TSC2/mTOR pathway. Br J Cancer (2009) 1.03

Musashi2 sustains the mixed-lineage leukemia-driven stem cell regulatory program. J Clin Invest (2015) 1.03

Feedback regulation of c-Myc by ribosomal protein L11. Cell Cycle (2007) 1.02

Articles by these authors

Comparison of the ligand binding specificity and transcript tissue distribution of estrogen receptors alpha and beta. Endocrinology (1997) 10.08

Interaction of estrogenic chemicals and phytoestrogens with estrogen receptor beta. Endocrinology (1998) 9.57

Photoinhibition of Photosystem II. Inactivation, protein damage and turnover. Biochim Biophys Acta (1993) 8.52

Measurement of the elastic modulus for red cell membrane using a fluid mechanical technique. Biophys J (1973) 6.41

Effects of controlled-release metoprolol on total mortality, hospitalizations, and well-being in patients with heart failure: the Metoprolol CR/XL Randomized Intervention Trial in congestive heart failure (MERIT-HF). MERIT-HF Study Group. JAMA (2000) 5.49

Cell separation on antigen-coated columns. Elimination of high rate antibody-forming cells and immunological memory cells. J Exp Med (1969) 5.38

Long-term ACE-inhibitor therapy in patients with heart failure or left-ventricular dysfunction: a systematic overview of data from individual patients. ACE-Inhibitor Myocardial Infarction Collaborative Group. Lancet (2000) 5.00

Uniaxial loading of the red-cell membrane. J Biomech (1972) 4.70

Evidence for thymus-independent humoral antibody production in mice against polyvinylpyrrolidone and E. coli lipopolysaccharide. Cell Immunol (1971) 4.69

Too much of a good thing: light can be bad for photosynthesis. Trends Biochem Sci (1992) 4.55

Evidence for a receptor recognizing antigen complexed immunoglobulin on the surface of activated mouse thymus lymphocytes. Scand J Immunol (1972) 4.50

Urban air pollution and lung cancer in Stockholm. Epidemiology (2000) 4.50

The Logistic Organ Dysfunction system. A new way to assess organ dysfunction in the intensive care unit. ICU Scoring Group. JAMA (1996) 4.30

A new prognostic classification of chronic lymphocytic leukemia derived from a multivariate survival analysis. Cancer (1981) 4.25

Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease. Science (1997) 4.25

Mortality Probability Models (MPM II) based on an international cohort of intensive care unit patients. JAMA (1993) 4.06

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67

Molecular maps of red cell deformation: hidden elasticity and in situ connectivity. Science (1994) 3.66

Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons. Cancer Causes Control (1997) 3.60

Cloned pigs produced by nuclear transfer from adult somatic cells. Nature (2000) 3.51

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet (1998) 3.33

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24

Lateral heterogeneity in the distribution of chlorophyll-protein complexes of the thylakoid membranes of spinach chloroplasts. Biochim Biophys Acta (1980) 3.23

Molecular cloning of protein 4.1, a major structural element of the human erythrocyte membrane skeleton. Proc Natl Acad Sci U S A (1986) 3.22

Evidence for a small pool of immunocompetent cells in the mouse thymus. Exp Cell Res (1969) 3.17

Engraftment of allogeneic hematopoietic progenitor cells with purine analog-containing chemotherapy: harnessing graft-versus-leukemia without myeloablative therapy. Blood (1997) 3.14

Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr (1997) 3.14

Transplant-lite: induction of graft-versus-malignancy using fludarabine-based nonablative chemotherapy and allogeneic blood progenitor-cell transplantation as treatment for lymphoid malignancies. J Clin Oncol (1998) 3.06

Starch granules: structure and biosynthesis. Int J Biol Macromol (1998) 2.83

Identification of an active disaccharide unit of a glycoconjugate receptor for pneumococci attaching to human pharyngeal epithelial cells. J Exp Med (1983) 2.80

Antibody-forming cells in human colostrum after oral immunisation. Nature (1975) 2.76

Studies on the regulation of avidity at the level of the single antibody-forming cell. The effect of antigen dose and time after immunization. J Exp Med (1970) 2.74

Using geographic information systems to assess individual historical exposure to air pollution from traffic and house heating in Stockholm. Environ Health Perspect (2001) 2.73

Myelodysplastic syndromes in childhood: report of 49 patients from a French multicentre study. French Society of Paediatric Haematology and Immunology. Br J Haematol (1996) 2.69

Helicobacter pylori infection: independent risk indicator of gastric adenocarcinoma. Gastroenterology (1993) 2.64

Serum cystatin C, determined by a rapid, automated particle-enhanced turbidimetric method, is a better marker than serum creatinine for glomerular filtration rate. Clin Chem (1994) 2.62

Customized probability models for early severe sepsis in adult intensive care patients. Intensive Care Unit Scoring Group. JAMA (1995) 2.61

Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci U S A (2007) 2.56

Differential response of estrogen receptor alpha and estrogen receptor beta to partial estrogen agonists/antagonists. Mol Pharmacol (1998) 2.55

Smoking tobacco, oral snuff, and alcohol in the etiology of squamous cell carcinoma of the head and neck: a population-based case-referent study in Sweden. Cancer (1998) 2.51

Feasibility of a nurse-monitored, outpatient-care programme for elderly patients with moderate-to-severe, chronic heart failure. Eur Heart J (1998) 2.49

The disabilities of the arm, shoulder and hand (DASH) outcome questionnaire: reliability and validity of the Swedish version evaluated in 176 patients. Acta Orthop Scand (2000) 2.45

Characteristics of the immunocompetent cells in the mouse thymus: cell population changes during cortisone-induced atrophy and subsequent regeneration. Cell Immunol (1970) 2.44

Ventricular long-axis function is of major importance for long-term survival in patients with heart failure. Heart (2007) 2.41

The associations between immigrant status and risk-behavior patterns in Latino adolescents. J Adolesc Health (1995) 2.36

Low IGF-I suppresses VEGF-survival signaling in retinal endothelial cells: direct correlation with clinical retinopathy of prematurity. Proc Natl Acad Sci U S A (2001) 2.35

Adhesion of Streptococcus pneumoniae to human pharyngeal epithelial cells in vitro: differences in adhesive capacity among strains isolated from subjects with otitis media, septicemia, or meningitis or from healthy carriers. Infect Immun (1981) 2.33

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet (1997) 2.33

Analysis of factors regulating erythrocyte deformability. J Clin Invest (1980) 2.29

Target-effector interaction in the natural killer (NK) cell system. II. The isolation of NK cells and studies on the mechanism of killing. J Immunol (1978) 2.29

Expression of messenger RNAs for platelet-derived growth factor and transforming growth factor-alpha and their receptors in human malignant glioma cell lines. Cancer Res (1988) 2.28

Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. J Clin Invest (1981) 2.27

Waxy Chlamydomonas reinhardtii: monocellular algal mutants defective in amylose biosynthesis and granule-bound starch synthase activity accumulate a structurally modified amylopectin. J Bacteriol (1992) 2.26

Anti-HERG activity and the risk of drug-induced arrhythmias and sudden death. Eur Heart J (2005) 2.24

Association of rheumatoid arthritis with a dominant DR1/Dw4/Dw14 sequence motif, but not with T cell receptor beta chain gene alleles or haplotypes. Arthritis Rheum (1991) 2.20

Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21. Nat Genet (1997) 2.20

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20

The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A (1990) 2.19

Large-scale concatenation cDNA sequencing. Genome Res (1997) 2.18

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res (1999) 2.16

A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. Br J Haematol (1975) 2.15

Fetal platelet counts in thrombocytopenic pregnancy. Lancet (1990) 2.13

Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome. Prenat Diagn (1993) 2.11

The thylakoid FtsH protease plays a role in the light-induced turnover of the photosystem II D1 protein. Plant Cell (2000) 2.10

Reversible and irreversible intermediates during photoinhibition of photosystem II: stable reduced QA species promote chlorophyll triplet formation. Proc Natl Acad Sci U S A (1992) 2.08

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood (1999) 2.07

Critical role of inducible nitric oxide synthase in degeneration of retinal capillaries in mice with streptozotocin-induced diabetes. Diabetologia (2007) 2.06

Incidence and pathogenesis of clinical relapse after herpes simplex encephalitis in adults. J Neurol (2005) 2.04

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02

Evidence for a small pool of immunocompetent cells in the mouse thymus. Its role in the humoral antibody response against sheep erythrocytes, bovine serum albumin, ovalbumin and the NIP determinant. Cell Immunol (1970) 2.00

Multiple marker screening for Down syndrome--whom should we screen? J Am Board Fam Pract (1999) 2.00

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics (1991) 1.99

A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure. Eur Heart J (2000) 1.96

Studies at the cellular level of the 19S immune response. Acta Pathol Microbiol Scand (1966) 1.93

Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. Blood (1991) 1.92

The malaria-infected red blood cell: structural and functional changes. Adv Parasitol (2001) 1.91

Nasopharyngeal colonization during the first year of life. J Infect Dis (1992) 1.89

The dynamic photosynthetic membrane and regulation of solar energy conversion. Trends Biochem Sci (1988) 1.88

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88

The topology of a membrane protein: the orientation of the 32 kd Qb-binding chloroplast thylakoid membrane protein. Cell (1986) 1.88

Ochratoxin A as the cause of spontaneous nephropathy in fattening pigs. Appl Environ Microbiol (1978) 1.86

Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell (1996) 1.85

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet (1994) 1.84

Angiotensin II levels, hemodynamics, and sympathoadrenal function after low-dose captopril in heart failure. Am J Med (1984) 1.83

Leghemoglobin biosynthesis in soybean root nodules. Characterization of the nascent and released peptides and the relative rate of synthesis of the major leghemoglobins. Biochemistry (1979) 1.83

Randomized trial of high-dose chemotherapy and blood cell autografts for high-risk primary breast carcinoma. J Natl Cancer Inst (2000) 1.81

Scandinavian glutamine trial: a pragmatic multi-centre randomised clinical trial of intensive care unit patients. Acta Anaesthesiol Scand (2011) 1.81

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet (1998) 1.78

Proarrhythmic effects of the class III agent almokalant: importance of infusion rate, QT dispersion, and early afterdepolarisations. Cardiovasc Res (1993) 1.78

Impact of high-dose chemotherapy on peripheral T-cell lymphomas. J Clin Oncol (2001) 1.76

Amylose is synthesized in vitro by extension of and cleavage from amylopectin. J Biol Chem (1998) 1.74

Protective factors in milk and the development of the immune system. Pediatrics (1985) 1.73