Published in Am J Hum Genet on March 01, 1992
The Regulation of Steroid Action by Sulfation and Desulfation. Endocr Rev (2015) 0.92
A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet (2017) 0.78
Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences. Mol Cytogenet (2015) 0.77
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry (1979) 180.95
Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol (1987) 58.68
Production of single-stranded plasmid DNA. Methods Enzymol (1987) 39.38
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A (1988) 6.46
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A (1989) 2.97
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell (1987) 1.99
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. Proc Natl Acad Sci U S A (1989) 1.50
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. J Biol Chem (1989) 1.42
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell (1988) 1.36
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. Genomics (1990) 1.19
Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.18
Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. Biochem Biophys Res Commun (1987) 1.14
Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in a heteroduplex between DNA strands with multiple differences. Nucleic Acids Res (1989) 1.13
Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci U S A (1989) 1.10
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics (1989) 1.09
Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning. J Bacteriol (1991) 1.04
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. Am J Hum Genet (1991) 0.97
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Hum Genet (1985) 0.86
Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency). Hum Genet (1988) 0.83
Human placental steroid sulphatase--purification and monospecific antibody production in rabbits. J Inherit Metab Dis (1984) 0.82
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. J Inherit Metab Dis (1987) 0.77
Purified hematopoietic stem cells can differentiate into hepatocytes in vivo. Nat Med (2000) 11.35
A cis-acting element from the Epstein-Barr viral genome that permits stable replication of recombinant plasmids in latently infected cells. Proc Natl Acad Sci U S A (1984) 10.91
The tripartite motif family identifies cell compartments. EMBO J (2001) 9.64
Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell (2001) 8.99
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature (1991) 8.22
A vector that replicates as a plasmid and can be efficiently selected in B-lymphoblasts transformed by Epstein-Barr virus. Mol Cell Biol (1985) 7.66
A putative origin of replication of plasmids derived from Epstein-Barr virus is composed of two cis-acting components. Mol Cell Biol (1985) 6.44
Proteasomal proteomics: identification of nucleotide-sensitive proteasome-interacting proteins by mass spectrometric analysis of affinity-purified proteasomes. Mol Biol Cell (2000) 5.19
Assembly and aggregation properties of synthetic Alzheimer's A4/beta amyloid peptide analogs. J Biol Chem (1992) 4.66
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nat Genet (1996) 4.00
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature (1991) 3.59
Characterization of a murine gene expressed from the inactive X chromosome. Nature (1991) 3.21
Serial transplantation reveals the stem-cell-like regenerative potential of adult mouse hepatocytes. Am J Pathol (1997) 3.15
Proliferation, but not growth, blocked by conditional deletion of 40S ribosomal protein S6. Science (2000) 3.07
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
The demand for neonatal intensive care. BMJ (1989) 2.94
Replication from oriP of Epstein-Barr virus requires human ORC and is inhibited by geminin. Cell (2001) 2.81
Localization of the X inactivation centre on the human X chromosome in Xq13. Nature (1991) 2.48
Social and economic factors in the choice of lung cancer treatment. A population-based study in two rural states. N Engl J Med (1988) 2.33
DNA replication is required To elicit cellular responses to psoralen-induced DNA interstrand cross-links. Mol Cell Biol (2000) 2.33
Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell (2001) 2.33
Cost of neonatal care across a regional health authority. J Public Health Med (1992) 2.33
PCR test for cystic fibrosis deletion. Nature (1990) 2.26
Alendronate increases bone strength by increasing the mean degree of mineralization of bone tissue in osteoporotic women. Bone (2000) 2.24
Comparison of voriconazole (UK-109,496) and itraconazole in prevention and treatment of Aspergillus fumigatus endocarditis in guinea pigs. Antimicrob Agents Chemother (1997) 2.18
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nat Genet (1996) 2.13
Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nat Genet (1995) 2.10
Lies, damned lies, and waiting lists. BMJ (1991) 2.10
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet (2000) 2.08
Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood (1996) 1.99
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet (1995) 1.95
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell (1995) 1.95
Alendronate increases degree and uniformity of mineralization in cancellous bone and decreases the porosity in cortical bone of osteoporotic women. Bone (2001) 1.94
Are conceptions of motion based on a naive theory or on prototypes? Cognition (1988) 1.93
Transcriptomes of the major human pancreatic cell types. Diabetologia (2011) 1.90
Cytosine arabinoside with daunorubicin or adriamycin for therapy of acute myelocytic leukemia: a CALGB study. Blood (1982) 1.79
The repopulation potential of hepatocyte populations differing in size and prior mitotic expansion. Am J Pathol (1999) 1.74
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet (2000) 1.73
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet (1999) 1.65
Therapeutic equivalence of alendronate 70 mg once-weekly and alendronate 10 mg daily in the treatment of osteoporosis. Alendronate Once-Weekly Study Group. Aging (Milano) (2000) 1.59
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med (1992) 1.58
Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet (1999) 1.56
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet (1999) 1.50
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Am J Med Genet (1996) 1.49
Improved engraftment of human spleen cells in NOD/LtSz-scid/scid mice as compared with C.B-17-scid/scid mice. Am J Pathol (1995) 1.49
The 4N cell cycle delay in Fanconi anemia reflects growth arrest in late S phase. Mol Genet Metab (2001) 1.46
Changes in the hepatic perfusion index during the development of experimental hepatic tumours. Br J Surg (1989) 1.45
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology (2000) 1.45
Use of computed tomography to investigate cheek tooth abnormalities in chinchillas (Chinchilla laniger) J Small Anim Pract (1998) 1.44
Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet (1993) 1.43
Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nat Genet (1995) 1.43
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet (1993) 1.42
Effect of estradiol on human breast cancer cells in culture. Cancer Res (1983) 1.41
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet (2005) 1.40
Octreotide inhibits the growth and development of three types of experimental liver metastases. Br J Surg (1995) 1.40
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet (1994) 1.40
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet (2000) 1.39
Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development. Mech Dev (1999) 1.39
Vertebral and carotid artery dissection following chiropractic cervical manipulation. Neurosurg Rev (1999) 1.38
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet (2000) 1.38
Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet (1993) 1.37
WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Hum Mol Genet (2001) 1.37
Molecular biology of Fanconi anemia: implications for diagnosis and therapy. Blood (1997) 1.35
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet (1994) 1.35
EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet (1999) 1.32
Referral of lung cancer patients to university hospital cancer centers. A population-based study in two rural states. Cancer (1988) 1.32
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet (1999) 1.29
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci U S A (1996) 1.28
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet (2001) 1.28
Cyclin-dependent kinase activation and S-phase induction of the cyclin B1 gene are linked through the CCAAT elements. Cell Growth Differ (1997) 1.28
Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proc Natl Acad Sci U S A (1997) 1.28
Inactivation of the Fanconi anemia group C gene augments interferon-gamma-induced apoptotic responses in hematopoietic cells. Blood (1997) 1.27
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Hum Mol Genet (1995) 1.27
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am J Hum Genet (1999) 1.26
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? Oncogene (2000) 1.26
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet (1998) 1.25
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. EMBO J (1997) 1.25
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet (2004) 1.25
The sulfatase gene family. Curr Opin Genet Dev (1997) 1.25
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc Natl Acad Sci U S A (1999) 1.24
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet (1996) 1.24
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics (1998) 1.23
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol (1999) 1.23
Bone marrow transplantation in apolipoprotein E-deficient mice. Effect of ApoE gene dosage on serum lipid concentrations, (beta)VLDL catabolism, and atherosclerosis. Arterioscler Thromb Vasc Biol (1997) 1.22
MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Hum Mol Genet (1999) 1.22
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet (1999) 1.22
The frequency of long-term remission in patients with acute myelogenous leukaemia treated with conventional maintenance chemotherapy: a study of 760 patients with a minimal follow-up time of 6 years. Br J Haematol (1989) 1.21
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet (1996) 1.21
Immortalization of four new Fanconi anemia fibroblast cell lines by an improved procedure. Somat Cell Mol Genet (1996) 1.20
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet (1990) 1.19
Effects of high-dose IgG on survival of surgical patients with sepsis scores of 20 or greater. Arch Surg (1991) 1.19