Published in Hum Genet on December 01, 1992
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet (1999) 0.80
Cytogenetic and molecular findings in patients with Turner's syndrome stigmata. J Med Genet (1995) 0.77
RNA editing in brain controls a determinant of ion flow in glutamate-gated channels. Cell (1991) 6.97
RNA editing of AMPA receptor subunit GluR-B: a base-paired intron-exon structure determines position and efficiency. Cell (1993) 5.62
Evidence for crossing-over between avian tumor viruses based on analysis of viral RNAs. Proc Natl Acad Sci U S A (1974) 4.40
Human immunodeficiency viruses. Science (1986) 4.34
Molecular diagnosis of bacterial endocarditis by broad-range PCR amplification and direct sequencing. J Clin Microbiol (1997) 4.20
Flip and flop: a cell-specific functional switch in glutamate-operated channels of the CNS. Science (1990) 3.53
Multiple promoters direct tissue-specific expression of the rat BDNF gene. Neuron (1993) 3.44
Lutropin-choriogonadotropin receptor: an unusual member of the G protein-coupled receptor family. Science (1989) 3.03
Caco-2 monolayers in experimental and theoretical predictions of drug transport. Adv Drug Deliv Rev (2001) 3.00
Angiographic follow-up after placement of a self-expanding coronary-artery stent. N Engl J Med (1991) 2.97
Conscious sedation for gastroscopy: patient tolerance and cardiorespiratory parameters. Gastroenterology (1995) 2.91
Structural and functional basis for GABAA receptor heterogeneity. Nature (1988) 2.65
T-cell lines producing antigen-specific suppressor factor. Nature (1978) 2.63
Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes. Nat Genet (2000) 2.62
Magnetic resonance imaging of atherosclerotic plaque with ultrasmall superparamagnetic particles of iron oxide in hyperlipidemic rabbits. Circulation (2001) 2.55
Cerebellar GABAA receptor selective for a behavioural alcohol antagonist. Nature (1990) 2.50
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Two novel GABAA receptor subunits exist in distinct neuronal subpopulations. Neuron (1989) 2.38
Recent discoveries of Dryopithecus shed new light on evolution of great apes. Nature (1993) 2.31
GABAA receptor beta subunit heterogeneity: functional expression of cloned cDNAs. EMBO J (1989) 2.05
A Dryopithecus skeleton and the origins of great-ape locomotion. Nature (1996) 1.96
Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet (2004) 1.95
Testing of individual blood donations for HCV RNA reduces the residual risk of transfusion-transmitted HCV infection. Transfusion (2000) 1.85
Multicenter trial of neo-adjuvant chemotherapy followed by extrapleural pneumonectomy in malignant pleural mesothelioma. Ann Oncol (2007) 1.85
Nonlinear analysis of heart rate and respiratory dynamics. IEEE Eng Med Biol Mag (1997) 1.75
Sedation and analgesia for colonoscopy: patient tolerance, pain, and cardiorespiratory parameters. Gastrointest Endosc (1997) 1.74
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
T-lymphocyte activation: the role of protein kinase C and the bifurcating inositol phospholipid signal transduction pathway. Immunol Rev (1987) 1.60
Glucose and tolbutamide induce apoptosis in pancreatic beta-cells. A process dependent on intracellular Ca2+ concentration. J Biol Chem (1998) 1.57
Cytokine-mediated Bax deficiency and consequent delayed neutrophil apoptosis: a general mechanism to accumulate effector cells in inflammation. Proc Natl Acad Sci U S A (1999) 1.56
Paravalvular leakage after mitral valve replacement: improved long-term survival with aggressive surgery? Eur J Cardiothorac Surg (2000) 1.55
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
VATS resection of an oesophageal leiomyoma in a patient with neurofibromatosis Recklinghausen. Eur J Cardiothorac Surg (1997) 1.52
Menarche 1990 in Stockholm schoolgirls. Acta Paediatr Scand (1991) 1.49
Endomyocardial biopsy in cardiac transplant recipients using the femoral venous approach. Am J Cardiol (1990) 1.46
Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures. Prenat Diagn (1998) 1.44
Endoluminal stenting of narrowed saphenous vein grafts: long-term clinical and angiographic follow-up. Cathet Cardiovasc Diagn (1994) 1.44
Small-cell lung cancer is characterized by a high incidence of deletions on chromosomes 3p, 4q, 5q, 10q, 13q and 17p. Br J Cancer (1997) 1.44
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
Muscle and myocutaneous flaps in reconstructive surgery of thoracic defects. Heart Lung Circ (2004) 1.42
Prognosis of medically treated patients referred for cardiac transplantation. Int J Cardiol (1998) 1.38
Pharmacological characterization of stably transfected Na+/H+ antiporter isoforms using amiloride analogs and a new inhibitor exhibiting anti-ischemic properties. Mol Pharmacol (1993) 1.38
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Ann Genet (1992) 1.38
New approach to patency and flow assessment after left internal thoracic artery hypoperfusion syndrome with additional saphenous vein graft to the left anterior descending artery with phase-contrast magnetic resonance angiography. J Thorac Cardiovasc Surg (1997) 1.38
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet (1982) 1.37
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet (2001) 1.34
Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+). Humangenetik (1973) 1.30
Syntaxin 1 interacts with the L(D) subtype of voltage-gated Ca(2+) channels in pancreatic beta cells. Proc Natl Acad Sci U S A (1999) 1.29
Coronary angioplasty versus left internal mammary artery grafting for isolated proximal left anterior descending artery stenosis. Lancet (1994) 1.27
Isolation and subfractionation of human peripheral blood mononuclear cells (PBMC) by density gradient centrifugation on Percoll. Immunobiology (1984) 1.26
RanBP3 contains an unusual nuclear localization signal that is imported preferentially by importin-alpha3. Mol Cell Biol (1999) 1.26
Expression of CD26 (dipeptidyl peptidase IV) on resting and activated human T-lymphocytes. Scand J Immunol (1991) 1.26
Functional and biochemical analysis of angiotensin II-forming pathways in the human heart. Circ Res (1997) 1.25
Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet (1980) 1.24
The acute lymphoblastic leukaemia cell line SEM with t(4;11) chromosomal rearrangement is biphenotypic and responsive to interleukin-7. Br J Haematol (1994) 1.24
Effect of exercise training on myocardial remodeling in patients with reduced left ventricular function after myocardial infarction: application of magnetic resonance imaging. Circulation (1997) 1.23
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. Z Kinderheilkd (1971) 1.22
Anti-C5a receptor antibodies. Characterization of neutralizing antibodies specific for a peptide, C5aR-(9-29), derived from the predicted amino-terminal sequence of the human C5a receptor. J Immunol (1993) 1.21
Molecular background of Rh D-positive, D-negative, D(el) and weak D phenotypes in Chinese. Vox Sang (2002) 1.21
A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet (1999) 1.20
Effect of high intensity exercise training on central hemodynamic responses to exercise in men with reduced left ventricular function. J Am Coll Cardiol (1997) 1.20
Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet (1992) 1.19
Parallel changes in nuclear and cytosolic calcium in mouse pancreatic beta-cells. Biochem J (1997) 1.19
The oto-onycho-peroneal syndrome. A probably new genetic entity. Eur J Pediatr (1982) 1.18
Brain-derived neurotrophic factor expression in vivo is under the control of neuron-restrictive silencer element. J Biol Chem (1999) 1.17
A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet (1992) 1.14
Genotyping of the human platelet antigen systems 1 through 5 by multiplex polymerase chain reaction and ligation-based typing. Transfusion (1996) 1.13
Na(+)/H(+) exchange inhibition with HOE642 improves postischemic recovery due to attenuation of Ca(2+) overload and prolonged acidosis on reperfusion. Circulation (2000) 1.12
What to call the AIDS virus? Nature (1986) 1.11
Sequence and expression of a novel GABAA receptor alpha subunit. FEBS Lett (1989) 1.10
Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Hum Genet (1990) 1.10
Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res (2007) 1.09
Aneurysm of the superior mediastinal veins. J Vasc Surg (1995) 1.09
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet (1977) 1.08
[The oro-facial-digital syndrome. Symptoms and prognosis]. Z Kinderheilkd (1972) 1.08
Short-term regulation of insulin gene transcription by glucose. Proc Natl Acad Sci U S A (1998) 1.07
Temporal study of the activity of matrix metalloproteinases and their endogenous inhibitors during wound healing. J Cell Biochem (1996) 1.06
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. Am J Med Genet (1983) 1.06
Application of RHD and RHCE genotyping for correct blood group determination in chronically transfused patients. Transfusion (1999) 1.06
[Observations on the problem of sex-linked recessive mental retardation]. Arch Psychiatr Nervenkr (1970) (1969) 1.06
G protein-coupled receptors regulate Na+,K+-ATPase activity and endocytosis by modulating the recruitment of adaptor protein 2 and clathrin. Proc Natl Acad Sci U S A (2000) 1.05
Protein kinase C modulates the insulin secretory process by maintaining a proper function of the beta-cell voltage-activated Ca2+ channels. J Biol Chem (1994) 1.05
Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn (2001) 1.04
Atelosteogenesis. Am J Med Genet (1982) 1.04
Possible antidepressive effects of opioids: action of buprenorphine. Ann N Y Acad Sci (1982) 1.04
Up-regulation of endothelin-B receptors in atherosclerotic human coronary arteries. J Cardiovasc Pharmacol (1996) 1.03
[Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)]. Helv Paediatr Acta (1967) 1.02
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet (1987) 1.02
A family with Huntington disease and reciprocal translocation 4;5. Am J Hum Genet (1986) 1.02
Identification and characterization of the effector region within human C5a responsible for stimulation of IL-6 synthesis. J Immunol (1992) 1.01
Frequency and causes of refractoriness in multiply transfused patients. Ann Hematol (1997) 1.01
Apoptosis induced by ischemia and reperfusion in experimental lung transplantation. Ann Thorac Surg (2000) 1.01
Aortobronchial and aortoesophageal fistulae as risk factors in surgery of descending thoracic aortic aneurysms. Eur J Cardiothorac Surg (1997) 1.01
Identification of cloned Y chromosomal DNA sequences from a lampbrush loop of Drosophila hydei. Proc Natl Acad Sci U S A (1982) 1.01
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet (2000) 1.00
A familial mutation in the testis-determining gene SRY shared by both sexes. Hum Genet (1992) 1.00