Published in J Med Genet on April 01, 1983
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Necropsy findings in a child with FG syndrome. J Med Genet (1986) 0.83
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A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr (1976) 1.24
Classification and natural history of clinically identifiable subtypes of cerebral infarction. Lancet (1991) 12.30
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Molecular analysis of cellulose biosynthesis in Arabidopsis. Science (1998) 7.51
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Lexical access in aphasic and nonaphasic speakers. Psychol Rev (1997) 3.68
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Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut (2010) 3.22
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Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet (1992) 2.70
Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
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X-linked situs abnormalities result from mutations in ZIC3. Nat Genet (1997) 2.62
Prevalence of gyrA, gyrB, parC, and parE mutations in clinical isolates of Streptococcus pneumoniae with decreased susceptibilities to different fluoroquinolones and originating from Worldwide Surveillance Studies during the 1997-1998 respiratory season. Antimicrob Agents Chemother (2000) 2.57
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Hyponatraemia: mechanisms and management. Lancet (1981) 2.55
Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Dev Biol (2000) 2.50
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet (1998) 2.48
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? Am J Med Genet (1992) 2.47
Deletions within chromosome 22q11 in familial congenital heart disease. Lancet (1992) 2.29
A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet (1992) 2.23
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet (1993) 2.21
Characterization of the supernumerary chromosome in cat eye syndrome. Science (1986) 2.19
European Code Against Cancer and scientific justification: third version (2003). Ann Oncol (2003) 2.17
Zoledronic acid (zoledronate) for postmenopausal women with early breast cancer receiving adjuvant letrozole (ZO-FAST study): final 60-month results. Ann Oncol (2012) 2.16
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet (1995) 2.13
Outer membrane proteins of Pseudomonas. Mol Microbiol (1990) 2.08
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet (1994) 2.06
Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet (1992) 2.05
Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet (1993) 2.00
Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am J Hum Genet (1991) 1.98
Dizygous twinning and premature menopause in fragile X syndrome. Lancet (1994) 1.90
Amygdalohippocampal MR volume measurements in the early stages of Alzheimer disease. AJNR Am J Neuroradiol (1994) 1.81
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet (2000) 1.80
Isolation and characterization of mutants defective in seed coat mucilage secretory cell development in Arabidopsis. Plant Physiol (2001) 1.77
Williams syndrome. J Med Genet (1986) 1.72
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet (1998) 1.65
A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome. J Med Genet (1986) 1.65
Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet (2000) 1.64
Comparing the biological and cultural inheritance of personality and social attitudes in the Virginia 30,000 study of twins and their relatives. Twin Res (1999) 1.64
A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? J Med Genet (1983) 1.63
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics (1994) 1.63
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet (2000) 1.62
A rapid classification protocol for the CATH Domain Database to support structural genomics. Nucleic Acids Res (2001) 1.61
CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst (1999) 1.59
Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res (1995) 1.57
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat (2003) 1.57
Cardiovascular risk assessment in patients with retinal vein occlusion. Br J Ophthalmol (2002) 1.57
A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics. Br J Cancer (2001) 1.56
Genetics of cognition: outline of a collaborative twin study. Twin Res (2001) 1.56
Intraarterial thrombolysis for treatment of acute stroke: experience in 26 patients with long-term follow-up. AJNR Am J Neuroradiol (1999) 1.56
Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn (1999) 1.55
The femoral hypoplasia-unusual facies syndrome. J Med Genet (1984) 1.52
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet (1995) 1.52
Molecular genetic tests in surgical management of familial adenomatous polyposis. Lancet (1997) 1.50
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med (1992) 1.49
Patient attitudes to sternotomy and thoracotomy scars. Thorac Cardiovasc Surg (2005) 1.47
Cell kinetics and gene expression changes in colorectal cancer patients given resistant starch: a randomised controlled trial. Gut (2008) 1.47
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J (1991) 1.46
VIDA: a virus database system for the organization of animal virus genome open reading frames. Nucleic Acids Res (2001) 1.43
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet (1995) 1.42
Carrier testing for cystic fibrosis: knowledge and attitudes within a local community. J R Coll Physicians Lond (1992) 1.41
Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. J Med Genet (2004) 1.41
Role of a regional register for familial adenomatous polyposis: experience in the northern region. Br J Surg (1991) 1.40
Long-term treatment of malignant gliomas with intramuscularly administered polyinosinic-polycytidylic acid stabilized with polylysine and carboxymethylcellulose: an open pilot study. Neurosurgery (1996) 1.39
Effect of procedure volume on outcomes after iliac artery angioplasty and stenting. Br J Surg (2013) 1.39
Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet (1996) 1.39
Fast and slow spindle involvement in the consolidation of a new motor sequence. Behav Brain Res (2010) 1.38
Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer (2009) 1.38
Early detection of vasospasm after acute subarachnoid hemorrhage using continuous EEG ICU monitoring. Electroencephalogr Clin Neurophysiol (1997) 1.38
Screening for cystic fibrosis in primary care. BMJ (1993) 1.36
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet (1991) 1.36
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. J Med Genet (1990) 1.36
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat (1999) 1.34
Alagille syndrome and deletion of 20p. J Med Genet (1990) 1.33
Immunohistochemical detection of bcl-2 protein in normal and pathological human liver. Am J Pathol (1994) 1.32
The frequency, causes and timing of death within 30 days of a first stroke: the Oxfordshire Community Stroke Project. J Neurol Neurosurg Psychiatry (1990) 1.31
Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis. BMJ (1989) 1.31
The neurochemical and metabolic cascade following brain injury: moving from animal models to man. J Neurotrauma (1995) 1.30
Cranial hemihypertrophy and neurodevelopmental prognosis. J Med Genet (1990) 1.29
Characterization of intratumoral follicular helper T cells in follicular lymphoma: role in the survival of malignant B cells. Leukemia (2011) 1.29
Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clin Genet (1985) 1.28
Duchenne muscular dystrophy in one of monozygotic twin girls. J Med Genet (1986) 1.28
Volatile nitrosamines and tobacco-specific nitrosamines in the smoke of Thai cigarettes: a risk factor for lung cancer and a suspected risk factor for liver cancer in Thailand. Carcinogenesis (1999) 1.27
Nontuberculous mycobacterial meningitis: report of two cases and review. Clin Infect Dis (1996) 1.26
Fetal valproate syndrome: is there a recognisable phenotype? J Med Genet (1987) 1.25
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet (1993) 1.25
Cornelia de Lange syndrome--photo essay. Clin Dysmorphol (1993) 1.24
Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet (2003) 1.24
CandidaDB: a genome database for Candida albicans pathogenomics. Nucleic Acids Res (2005) 1.23