Published in Am J Hum Genet on March 15, 2001
The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood (2005) 1.95
When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst (2010) 1.76
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am (2009) 1.31
Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. BMJ Case Rep (2012) 1.09
The molecular pathology of primary immunodeficiencies. J Mol Diagn (2004) 0.98
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. Semin Hematol (2011) 0.98
SBDS expression and localization at the mitotic spindle in human myeloid progenitors. PLoS One (2009) 0.92
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol (2011) 0.90
Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease. Hum Mol Genet (2009) 0.85
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. Eur J Pediatr (2013) 0.78
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child. Rev Bras Hematol Hemoter (2013) 0.75
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins. J Pediatr Genet (2016) 0.75
Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition? Clin Case Rep (2017) 0.75
Short stature: an ordinary sign for an unordinary diagnosis. Ital J Pediatr (2017) 0.75
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A (1984) 48.41
Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Faster sequential genetic linkage computations. Am J Hum Genet (1993) 18.83
A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet (1997) 12.94
Avoiding recomputation in linkage analysis. Hum Hered (1994) 8.39
A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci U S A (1996) 4.30
THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION. J Pediatr (1964) 4.12
Faster multipoint linkage analysis using Fourier transforms. J Comput Biol (1998) 3.87
An STS-based radiation hybrid map of the human genome. Genome Res (1997) 3.57
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS. Acta Paediatr (1964) 2.61
Shwachman's syndrome. A review of 21 cases. Arch Dis Child (1980) 2.32
Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch Dis Child (1967) 2.13
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet (1995) 1.99
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum Mol Genet (1999) 1.94
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet (1996) 1.93
Repetitive conundrums of centromere structure and function. Hum Mol Genet (1999) 1.81
Isochromosomes in neoplasia. Genes Chromosomes Cancer (1994) 1.64
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr (1999) 1.47
Spurious monosomy 7 in leukemia due to centromeric heteromorphism. Cancer Genet Cytogenet (2000) 1.45
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet (1998) 1.33
Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood (1995) 1.33
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology (1996) 1.25
Extreme reduction of chromosome-specific alpha-satellite array is unusually common in human chromosome 21. Genome Res (1999) 1.22
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. Helv Paediatr Acta (1969) 1.17
Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol (1996) 1.12
Physical map of the centromeric region of human chromosome 7: relationship between two distinct alpha satellite arrays. Nucleic Acids Res (1991) 1.08
A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet (1998) 1.04
The occurrence of leukemia in patients with the Shwachman syndrome. J Pediatr (1981) 1.00
Psychological characteristics of children with Shwachman syndrome. Arch Dis Child (1990) 0.97
Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients. Acta Paediatr Scand (1984) 0.92
Steatorrhea and pancreatic insufficiency in Shwachman syndrome. Gastroenterology (1982) 0.89
Syndrome of Shwachman and leukaemia. Scand J Haematol (1977) 0.88
Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome. Leukemia (1998) 0.84
Orthopaedic features of Shwachman syndrome. A report of two cases. J Bone Joint Surg Am (1994) 0.84
Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. Cancer Genet Cytogenet (2000) 0.83
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene. Clin Genet (1999) 0.82
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. Am J Med Genet (1999) 0.81
Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2). J Med Genet (1995) 0.81
Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia. Cancer Genet Cytogenet (1999) 0.81
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. Am J Hum Genet (2000) 0.80
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Detection, isolation, and continuous production of cytopathic retroviruses (HTLV-III) from patients with AIDS and pre-AIDS. Science (1984) 33.32
Frequent detection and isolation of cytopathic retroviruses (HTLV-III) from patients with AIDS and at risk for AIDS. Science (1984) 32.33
High-resolution haplotype structure in the human genome. Nat Genet (2001) 20.51
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science (1998) 18.23
The role of mononuclear phagocytes in HTLV-III/LAV infection. Science (1986) 17.33
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet (2000) 15.19
A gene map of the human genome. Science (1996) 14.32
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
A physical map of 30,000 human genes. Science (1998) 12.43
Antibodies reactive with human T-lymphotropic retroviruses (HTLV-III) in the serum of patients with AIDS. Science (1984) 11.30
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet (2001) 11.12
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Replacement of insulin receptor tyrosine residues 1162 and 1163 compromises insulin-stimulated kinase activity and uptake of 2-deoxyglucose. Cell (1986) 8.87
The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell (1985) 7.45
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30
Trans-acting transcriptional regulation of human T-cell leukemia virus type III long terminal repeat. Science (1985) 6.51
Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature (1995) 6.16
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet (1993) 5.97
Serological analysis of a subgroup of human T-lymphotropic retroviruses (HTLV-III) associated with AIDS. Science (1984) 5.43
Genomic diversity of human T-lymphotropic virus type III (HTLV-III). Science (1985) 5.33
Genomic diversity of the acquired immune deficiency syndrome virus HTLV-III: different viruses exhibit greatest divergence in their envelope genes. Proc Natl Acad Sci U S A (1985) 5.10
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
Isolation of human T-cell leukemia virus in acquired immune deficiency syndrome (AIDS). Science (1983) 4.72
Isolation and transmission of human retrovirus (human t-cell leukemia virus). Science (1983) 4.67
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet (2000) 4.66
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65
Molecular cloning and characterization of the HTLV-III virus associated with AIDS. Nature (1984) 4.35
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol (2000) 4.10
Falls by elderly people at home: prevalence and associated factors. Age Ageing (1988) 3.92
Seroepidemiological studies of human T-lymphotropic retrovirus type III in acquired immunodeficiency syndrome. Lancet (1984) 3.77
Sequence of protein disulphide isomerase and implications of its relationship to thioredoxin. Nature (1985) 3.75
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell (1990) 3.70
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance. Cell (1991) 3.56
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet (2000) 3.52
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet (1996) 3.50
Epidermal Langerhans cells--a target for HTLV-III/LAV infection. J Invest Dermatol (1987) 3.41
MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines. Cancer Res (1997) 3.38
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet (1994) 3.38
The effect of intragenic recombination on the number of alleles in a finite population. Genetics (1978) 3.27
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet (2000) 3.17
Multi-ion pore behaviour in the CFTR chloride channel. Nature (1993) 3.14
Levels of customary physical activity among the old and the very old living at home. J Epidemiol Community Health (1988) 3.07
Transformation of human umbilical cord blood T cells by human T-cell leukemia/lymphoma virus. Proc Natl Acad Sci U S A (1983) 3.01
An open label study of the effects of rituximab in neuromyelitis optica. Neurology (2005) 2.99
Antibodies to HTLV-III in Swiss patients with AIDS and pre-AIDS and in groups at risk for AIDS. N Engl J Med (1985) 2.95
Structure and expression of tat-, rev-, and nef-specific transcripts of human immunodeficiency virus type 1 in infected lymphocytes and macrophages. J Virol (1990) 2.93
Virus isolation from and identification of HTLV-III/LAV-producing cells in brain tissue from a patient with AIDS. JAMA (1986) 2.86
Haplotype mapping and sequence analysis of the mouse Nramp gene predict susceptibility to infection with intracellular parasites. Genomics (1994) 2.80
Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc Natl Acad Sci U S A (1998) 2.80
Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome. Am J Hum Genet (1995) 2.77
HTLV-III/LAV viral antigens in lymph nodes of homosexual men with persistent generalized lymphadenopathy and AIDS. Am J Pathol (1986) 2.77
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet (2002) 2.77
The virus of Japanese adult T-cell leukaemia is a member of the human T-cell leukaemia virus group. Nature (1982) 2.75
Parents' beliefs about vaccination: the continuing propagation of false contraindications. BMJ (1989) 2.71
Suramin protection of T cells in vitro against infectivity and cytopathic effect of HTLV-III. Science (1984) 2.70
Psychological markers in the detection of autism in infancy in a large population. Br J Psychiatry (1996) 2.64
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet (1989) 2.56
Anxiety caused by a short-life hypnotic. Br Med J (Clin Res Ed) (1982) 2.51
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet (2001) 2.50
Mechanisms of contrast agent destruction. IEEE Trans Ultrason Ferroelectr Freq Control (2001) 2.48
The hospital admissions study in England: are there alternatives to emergency hospital admission? J Epidemiol Community Health (1995) 2.46
An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet (2000) 2.36
Cellular localization of simian immunodeficiency virus in lymphoid tissues. I. Immunohistochemistry and electron microscopy. Am J Pathol (1989) 2.33
ATPase activity of the cystic fibrosis transmembrane conductance regulator. J Biol Chem (1996) 2.33
Overfeeding rapidly induces leptin and insulin resistance. Diabetes (2001) 2.32
Comparative advantage of 3-day food records over 24-hour recall and 5-day food frequency validated by observation of 9- and 10-year-old girls. J Am Diet Assoc (1994) 2.30
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet (1996) 2.29
T4 positive human neoplastic cell lines susceptible to and permissive for HTLV-III. Lancet (1984) 2.28
Radiation hybrid mapping of the zebrafish genome. Proc Natl Acad Sci U S A (1999) 2.27
A prospective longitudinal study of social, psychological and obstetric factors in pregnancy: response rates and demographic characteristics of the 8556 respondents. Br J Obstet Gynaecol (1989) 2.27
Permeability of wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels to polyatomic anions. J Gen Physiol (1997) 2.26
Isolation of infectious human T-cell leukemia/lymphotropic virus type III (HTLV-III) from patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex (ARC) and from healthy carriers: a study of risk groups and tissue sources. Proc Natl Acad Sci U S A (1985) 2.26
A map of 75 human ribosomal protein genes. Genome Res (1998) 2.15
The Drosophila esc and E(z) proteins are direct partners in polycomb group-mediated repression. Mol Cell Biol (1998) 2.10
Analysis of the apoptotic and therapeutic activities of histone deacetylase inhibitors by using a mouse model of B cell lymphoma. Proc Natl Acad Sci U S A (2007) 2.10
Inhibition of human immunodeficiency virus (HIV-1/HTLV-IIIBa-L) replication in fresh and cultured human peripheral blood monocytes/macrophages by azidothymidine and related 2',3'-dideoxynucleosides. J Exp Med (1988) 2.08
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 2.07
Socioeconomic inequalities in cancer survival in England after the NHS cancer plan. Br J Cancer (2010) 2.07
A Drosophila ESC-E(Z) protein complex is distinct from other polycomb group complexes and contains covalently modified ESC. Mol Cell Biol (2000) 2.05
Atrial natriuretic factor in experimental cirrhosis in rats. Gastroenterology (1992) 2.03
A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting. Proc Natl Acad Sci U S A (1989) 2.02
Monoclonal antibodies specific for p24, the major core protein of human T-cell leukemia virus type III. Proc Natl Acad Sci U S A (1985) 2.00
Risk of human immunodeficiency virus (HIV-1) infection among laboratory workers. Science (1988) 1.97
FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet (1998) 1.96
Ethics approval for research in medical education. Med Educ (2001) 1.96
Characterization of short tandem repeats from thirty-one human telomeres. Genome Res (1997) 1.96
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
Chronic hepatitis C with normal aminotransferase levels: a clinical histologic study. Am J Gastroenterol (1997) 1.91
Critical roles of kisspeptins in female puberty and preovulatory gonadotropin surges as revealed by a novel antagonist. Endocrinology (2009) 1.91
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet (1998) 1.88
Spectrum of human T-cell lymphotropic virus type III infection in children. Recognition of symptomatic, asymptomatic, and seronegative patients. JAMA (1986) 1.87
Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11. Nature (1988) 1.84
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol (1997) 1.79
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78
Improving prevention systems in primary care practices: the Health Education and Research Trial (HEART) J Fam Pract (2000) 1.78