Published in Hum Genet on May 19, 1976
Report of a new case and clinical delineation of mosaic trisomy 9 syndrome. J Med Genet (1982) 1.71
An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies. J Med Genet (1977) 1.30
Complete trisomy 9 in two liveborn infants. J Med Genet (1981) 0.84
A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report. Mol Med Rep (2015) 0.82
Complex cardiac malformation in a case of trisomy 9. J Med Genet (1985) 0.79
Trisomy 9p due to unusual maternal translocation (3;9). J Med Genet (1984) 0.75
Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity (1995) 10.59
Open access echocardiography in management of heart failure in the community. BMJ (1995) 7.83
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science (1991) 5.99
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture. Am J Hum Genet (1979) 5.18
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91
Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science (1977) 4.59
Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics. Am J Hum Genet (1979) 4.10
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet (2001) 3.83
Safety of transesophageal echocardiography. A multicenter survey of 10,419 examinations. Circulation (1991) 3.70
Primary amoebic meningo-encephalitis. An appraisal of present knowledge. Trans R Soc Trop Med Hyg (1972) 3.68
Dynamic mutations: a new class of mutations causing human disease. Cell (1992) 3.63
Value of the electrocardiogram in identifying heart failure due to left ventricular systolic dysfunction. BMJ (1996) 3.59
Brief report: fulminating fat embolism syndrome caused by paradoxical embolism through a patent foramen ovale. N Engl J Med (1993) 3.55
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
Cysteamine, methionine, and penicillamine in the treatment of paracetamol poisoning. Lancet (1976) 3.41
Acute pyogenic meningitis probably due to Acanthamoeba sp.: a preliminary report. Br Med J (1965) 3.37
Regional strain and strain rate measurements by cardiac ultrasound: principles, implementation and limitations. Eur J Echocardiogr (2000) 3.36
Incidence and origin of "null" alleles in the (AC)n microsatellite markers. Am J Hum Genet (1993) 3.18
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (1995) 3.15
Description of a Naegleria sp. isolated from two cases of primary amoebic meningo-encephalitis, and of the experimental pathological changes induced by it. J Pathol (1970) 2.96
CD30 antigen, a marker for Hodgkin's lymphoma, is a receptor whose ligand defines an emerging family of cytokines with homology to TNF. Cell (1993) 2.73
Fc alpha/mu receptor mediates endocytosis of IgM-coated microbes. Nat Immunol (2000) 2.66
Acute Intussusception in Infancy and Childhood: A Review of Sixty-Four Cases. Ann Surg (1932) 2.63
DNAM-1, a novel adhesion molecule involved in the cytolytic function of T lymphocytes. Immunity (1996) 2.56
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Unnecessary x ray examinations. BMJ (1989) 2.37
Simple repeat DNA is not replicated simply. Nat Genet (1994) 2.37
Respiration of Cucumber Fruits Associated with Physiological Injury at Chilling Temperatures. Plant Physiol (1956) 2.28
Sensitivity to amphotericin B of a Naegleria sp. isolated from a case of primary amoebic meningoencephalitis. J Clin Pathol (1969) 2.12
X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. Hum Genet (1979) 2.12
Ventricular septal defects. Two dimensional echocardiographic and morphological correlations. Br Heart J (1982) 2.11
Diagnosis of heart tumours by transoesophageal echocardiography: a multicentre study in 154 patients. European Cooperative Study Group. Eur Heart J (1993) 2.10
Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X. Hum Genet (1989) 2.10
Dynamic mutation: possible mechanisms and significance in human disease. Trends Biochem Sci (1997) 2.04
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.01
Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16. Genomics (1992) 2.00
Non-invasive diagnosis of coronary artery disease by quantitative stress echocardiography: optimal diagnostic models using off-line tissue Doppler in the MYDISE study. Eur Heart J (2003) 1.99
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers. Am J Hum Genet (1991) 1.95
Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet (1992) 1.91
Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression. Am J Hum Genet (1980) 1.88
bcl-w, a novel member of the bcl-2 family, promotes cell survival. Oncogene (1996) 1.87
Muc13, a novel human cell surface mucin expressed by epithelial and hemopoietic cells. J Biol Chem (2001) 1.86
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet (1995) 1.86
Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. Proc Natl Acad Sci U S A (1999) 1.86
LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes. Immunity (1997) 1.85
Policy for prevention of Asian rickets in Britain: a preliminary assessment of the Glasgow rickets campaign. Br Med J (Clin Res Ed) (1981) 1.83
Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet (1989) 1.79
Explanation for exclusive maternal origin for congenital form of myotonic dystrophy. Lancet (1993) 1.72
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet (1991) 1.71
Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol (1999) 1.70
Mapping the short arm of human chromosome 16. Genomics (1989) 1.69
Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology (2003) 1.67
Primary amoebic meningo-encephalitis: clinical, pathological and epidemiological features of six fatal cases. J Pathol Bacteriol (1968) 1.67
The detection of fat embolism by transoesophageal echocardiography during reamed intramedullary nailing. A study of 24 patients with femoral and tibial fractures. J Bone Joint Surg Br (1993) 1.66
Anatomical basis of cross sectional echocardiography. Br Heart J (1983) 1.63
Down's syndrome in South Australia. Med J Aust (1979) 1.63
The CD39 lymphoid cell activation antigen. Molecular cloning and structural characterization. J Immunol (1994) 1.63
Diagnosis of atrial situs by transesophageal echocardiography. J Am Coll Cardiol (1990) 1.62
Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim. Mamm Genome (2001) 1.62
Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet (1996) 1.61
Molecular and biological characterization of human 4-1BB and its ligand. Eur J Immunol (1994) 1.59
Prevention of rickets in Asian children: assessment of the Glasgow campaign. Br Med J (Clin Res Ed) (1985) 1.58
Transesophageal echocardiographic monitoring of interventional cardiac catheterization in children. J Am Coll Cardiol (1991) 1.56
Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. Oncogene (1998) 1.56
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics (1988) 1.55
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell (1997) 1.55
Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal. Am J Hum Genet (1981) 1.55
Molecular characterization of murine and human OX40/OX40 ligand systems: identification of a human OX40 ligand as the HTLV-1-regulated protein gp34. EMBO J (1994) 1.52
Two novel mucin genes down-regulated in colorectal cancer identified by differential display. Cancer Res (1999) 1.52
Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives. Hum Genet (1979) 1.51
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science (1994) 1.51
At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes Cancer (1994) 1.50
High frame rate myocardial integrated backscatter. Does this change our understanding of this acoustic parameter? Eur J Echocardiogr (2000) 1.49
The fragile X chromosome. Int Rev Cytol (1983) 1.49
Report of the committee on cytogenetic markers. Cytogenet Cell Genet (1989) 1.48
Colour Doppler velocity imaging of the myocardium. Ultrasound Med Biol (1992) 1.48
Ventilation and acid-base changes in deep coma due to barbiturate or tricyclic antidepressant poisoning. Clin Toxicol (1977) 1.47
The value of Doppler color flow mapping in determining pulmonary blood supply in infants with pulmonary atresia with ventricular septal defect. J Am Coll Cardiol (1989) 1.47
Hippocampal neurons are damaged by caffeine-augmented electroshock seizures. Biol Psychiatry (1996) 1.46
Electron microscopic evidence against apoptosis as the mechanism of neuronal death in global ischemia. J Neurosci (1999) 1.45
Assessing diagnosis in heart failure: which features are any use? QJM (1997) 1.45
Transesophageal echocardiography. J Am Soc Echocardiogr (1990) 1.44
Abnormal body fat distribution detected by computed tomography in diabetic men. Invest Radiol (1986) 1.44
Analysis of reproducibility of reference lumen quantitation with intravascular ultrasound in stented coronary arteries. Cathet Cardiovasc Diagn (1997) 1.42
Cloning, chromosomal mapping and characterization of the human metal-regulatory transcription factor MTF-1. Nucleic Acids Res (1994) 1.42
Dinucleotide repeat polymorphisms at the D16S164, D16S168 and D16S186 loci at 16q21-q22.1. Nucleic Acids Res (1991) 1.42
Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Mol Cell Biol (1995) 1.42
HPP1: a transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers. Proc Natl Acad Sci U S A (2001) 1.41
Transoral resection of axial lesions augmented by intraoperative magnetic resonance imaging. Report of three cases. J Neurosurg (2001) 1.40
Comparative roles of intraoperative epicardial and early postoperative transthoracic echocardiography in the assessment of surgical repair of congenital heart defects. J Am Coll Cardiol (1990) 1.40
Limb deformity and metaphyseal abnormalities in thalassaemia major. Am J Pediatr Hematol Oncol (1992) 1.40
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet (1987) 1.40
Predictive diagnosis for polycystic kidney disease using DNA markers. Med J Aust (1990) 1.39
Doppler myocardial imaging in the assessment of regional myocardial function in longitudinal direction pre- and post-PTCA. Eur J Echocardiogr (2001) 1.39
Idiopathic hemochromatosis presenting as acute hepatitis. J Pediatr (1987) 1.39
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature (1995) 1.38
Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites. Am J Hum Genet (1982) 1.38
Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14. J Biol Chem (2001) 1.38