Published in Am J Med Genet on January 01, 1984
Adult fragile X syndrome. Clinico-neuropathologic findings. Acta Neuropathol (1985) 1.80
Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet (2012) 1.50
Non-specific X linked mental retardation. J Med Genet (1991) 1.43
X linked mental retardation. J Med Genet (1991) 1.41
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. J Med Genet (1990) 1.36
A practical metaphase marker of the inactive X chromosome. Am J Hum Genet (1986) 1.20
The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J (1985) 1.09
X-linked mental retardation: in pursuit of a gene map. Am J Hum Genet (1993) 1.03
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. J Med Genet (1992) 0.96
Limbic epileptogenesis in a mouse model of fragile X syndrome. Cereb Cortex (2008) 0.94
The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations. J Med Genet (1987) 0.92
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. J Med Genet (1998) 0.89
Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet (1985) 0.87
The fragile X syndrome in a large family. II. Psychological investigations. J Med Genet (1987) 0.85
Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions. J Med Genet (1987) 0.83
Folic acid blinded trial in identical twins with fragile X syndrome. Am J Hum Genet (1985) 0.79
Recently recognized chromosomal defects of clinical importance. Postgrad Med J (1986) 0.75
The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology. Clin Neuropsychol (2016) 0.75
General anesthesia and fragile X syndrome: report of a case. Anesth Prog (1986) 0.75
X linked mental retardation: a family with a separate syndrome? J Med Genet (1989) 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
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
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
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
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
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
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
DNAM-1, a novel adhesion molecule involved in the cytolytic function of T lymphocytes. Immunity (1996) 2.56
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Resynthesizing evolutionary and developmental biology. Dev Biol (1996) 2.50
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
Unnecessary x ray examinations. BMJ (1989) 2.37
Simple repeat DNA is not replicated simply. Nat Genet (1994) 2.37
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
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
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
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
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd (1974) 1.93
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
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
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
The Brachmann-de Lange syndrome. Am J Med Genet (1985) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
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
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 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
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
Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum Genet (1976) 1.56
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
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 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
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
Two novel mucin genes down-regulated in colorectal cancer identified by differential display. Cancer Res (1999) 1.52
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
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
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet (1994) 1.50
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 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
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 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
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 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
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet (1983) 1.44
The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr (1977) 1.43
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43