Published in J Med Genet on October 01, 1986
Williams syndrome. J Med Genet (1986) 1.72
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet (1996) 1.47
Unbalanced 13;18 translocation and Williams syndrome. J Med Genet (1992) 1.07
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. J Med Genet (1992) 0.94
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. J Med Genet (1996) 0.91
De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome. J Med Genet (1992) 0.91
Cardiac anomalies in Williams-Beuren syndrome. Arch Dis Child (1988) 0.90
The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome. J Med Genet (1989) 0.83
Del(4)(q33----qter): another case report of a child with mild dysmorphism. J Med Genet (1989) 0.78
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature. BMC Med Genet (2014) 0.78
A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation. J Med Genet (1988) 0.75
A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities. Arch Dis Child (1967) 1.91
Deletions of different segments of the long arm of chromosome 4. Am J Med Genet (1981) 1.72
Williams syndrome. J Med Genet (1986) 1.72
Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin Genet (1982) 1.49
Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies. J Med Genet (1973) 1.36
4q- syndrome. Am J Dis Child (1979) 1.10
Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System. Hum Hered (1977) 1.08
An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques. Ann Genet (1973) 1.07
A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)]. J Med Genet (1975) 1.06
The elfin face syndrome and the short arm of chromosome 15. Ann Genet (1982) 1.03
Deletion of the long arm of chromosome 4: a clinically identifiable syndrome? Birth Defects Orig Artic Ser (1978) 1.00
[A case of a chromsome B4 long arm deletion (B4q-) (author's transl)]. Arch Genet (Zur) (1974) 0.98
Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion. Ann Genet (1981) 0.98
Terminal deletion(4)(q33) in a male infant. Clin Genet (1982) 0.95
Partial deletion of the long arm of chromosome 4: a clinical syndrome. J Med Genet (1982) 0.92
Deletion of chromosome 4q33 leads to qter. Is it different from 4q31 leads to qter deletion syndrome? Am J Med Genet (1983) 0.90
Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome. Ann Genet (1981) 0.88
Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies. Ann Genet (1977) 0.87
Del(4)(q31) syndrome. Am J Med Genet (1982) 0.87
Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:). Am J Med Genet (1982) 0.86
Brief clinical report: the del(4) (q31) syndrome- a recognizable disorder with atypical Robin malformation sequence. Am J Med Genet (1981) 0.86
[De novo monosomy 4q32.1 leads to 4qter in a newborn with multiple malformations (author's transl)]. Ann Genet (1979) 0.81
The partial 4q monosomy. Report of a 5-year-old boy with deletion 4q31.3 leads to 4qter. Eur J Pediatr (1982) 0.81
Chromosome 4q deletion syndrome: a case report. Isr J Med Sci (1983) 0.81
Classification and natural history of clinically identifiable subtypes of cerebral infarction. Lancet (1991) 12.30
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature (1987) 10.32
Specialist medical training and the Calman report. BMJ (1993) 8.42
Molecular analysis of cellulose biosynthesis in Arabidopsis. Science (1998) 7.51
Gene Ontology annotations and resources. Nucleic Acids Res (2012) 6.13
A prospective study of acute cerebrovascular disease in the community: the Oxfordshire Community Stroke Project--1981-86. 2. Incidence, case fatality rates and overall outcome at one year of cerebral infarction, primary intracerebral and subarachnoid haemorrhage. J Neurol Neurosurg Psychiatry (1990) 5.82
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet (2007) 4.62
DiGeorge syndrome: part of CATCH 22. J Med Genet (1993) 4.30
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet (1992) 4.07
PulseNet USA: a five-year update. Foodborne Pathog Dis (2006) 3.59
Interpretation of electrocardiograms by doctors. BMJ (1994) 3.48
Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet (1997) 3.41
Analysis of multiply antimicrobial-resistant isolates of Streptococcus pneumoniae from the United States. Antimicrob Agents Chemother (1992) 3.39
Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut (2010) 3.22
Storage of vaccines in general practice. BMJ (1989) 3.18
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet (2001) 3.15
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
Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut (2008) 2.65
X-linked situs abnormalities result from mutations in ZIC3. Nat Genet (1997) 2.62
Hyponatraemia: mechanisms and management. Lancet (1981) 2.55
Hypoplastic left heart syndrome: more potential transplant recipients than suitable donors. Lancet (1991) 2.50
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
Pain on injection of propofol: the effect of injectate temperature. Anaesthesia (1990) 2.32
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
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet (1995) 2.13
Ventricular septal defects. Two dimensional echocardiographic and morphological correlations. Br Heart J (1982) 2.11
Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet (1992) 2.05
The molecular dissection of Fc gamma receptor mediated phagocytosis. Blood (1995) 2.02
Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet (1993) 2.00
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol (2011) 1.85
Serial study of factors influencing changes in cardiac output during human pregnancy. Am J Physiol (1989) 1.81
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet (2000) 1.80
Pathology of hyalohyphomycosis caused by Scedosporium apiospermum (Pseudallescheria boydii): an emerging mycosis. Hum Pathol (1998) 1.77
Isolation and characterization of mutants defective in seed coat mucilage secretory cell development in Arabidopsis. Plant Physiol (2001) 1.77
The empty delta sign: frequency and significance in 76 cases of dural sinus thrombosis. Radiology (1987) 1.73
Stenting of the arterial duct combined with banding of the pulmonary arteries and atrial septectomy or septostomy: a new approach to palliation for the hypoplastic left heart syndrome. Br Heart J (1993) 1.72
Williams syndrome. J Med Genet (1986) 1.72
An SCL 3' enhancer targets developing endothelium together with embryonic and adult haematopoietic progenitors. Development (1999) 1.67
Computerized analysis of restriction fragment length polymorphism patterns: comparative evaluation of two commercial software packages. J Clin Microbiol (1998) 1.66
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet (1998) 1.65
Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet (2000) 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
Anatomical basis of cross sectional echocardiography. Br Heart J (1983) 1.63
Non-invasive assessment of pulmonary arterial pressure in healthy neonates. Arch Dis Child (1991) 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
Haemodynamic features at presentation in persistent pulmonary hypertension of the newborn and outcome. Arch Dis Child Fetal Neonatal Ed (1996) 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
A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics. Br J Cancer (2001) 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
Nationwide outbreak of listeriosis due to contaminated meat. Epidemiol Infect (2005) 1.52
Diabetes classification: grey zones, sound and smoke: Action LADA 1. Diabetes Metab Res Rev (2008) 1.50
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
Restriction fragment length polymorphism in four virulence-associated genes of Listeria monocytogenes. Res Microbiol (1992) 1.45
The rostral mesencephalon in Parkinson's disease and Alzheimer's disease. Acta Neuropathol (1985) 1.45
Proficient manipulation of fibreoptic bronchoscope to carina by novices on first clinical attempt after specialized bench practice. Br J Anaesth (2010) 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
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
Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer (2009) 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
Cardiac output during labour. Br Med J (Clin Res Ed) (1987) 1.34
Epidermal mosaicism and Blaschko's lines. J Med Genet (1993) 1.34
Alagille syndrome and deletion of 20p. J Med Genet (1990) 1.33
Eighth survey of staffing in cardiology in the United Kingdom 1992. Br Heart J (1994) 1.31
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
Cranial hemihypertrophy and neurodevelopmental prognosis. J Med Genet (1990) 1.29
Duchenne muscular dystrophy in one of monozygotic twin girls. J Med Genet (1986) 1.28
Fetal valproate syndrome: is there a recognisable phenotype? J Med Genet (1987) 1.25
Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet (2003) 1.24
Tumor angiogenesis as a prognostic factor in oral cavity tumors. Am J Surg (1994) 1.24
Cornelia de Lange syndrome--photo essay. Clin Dysmorphol (1993) 1.24
Neuropathologic findings in idiopathic opsoclonus and myoclonus. Their similarity to those in paraneoplastic cerebellar cortical degeneration. J Clin Neuroophthalmol (1986) 1.24
Juniors' hours: measuring the strength of feeling. BMJ (1990) 1.23
Population based, prospective study of the care of women with epilepsy in pregnancy. BMJ (2000) 1.22
Assessment of total anomalous pulmonary venous connection by two-dimensional echocardiography. Br Heart J (1981) 1.22
Rapid resolution of tumoral calcinosis after renal transplantation. Clin Nephrol (1999) 1.22
Pulmonary and systemic arterial pressure in hyaline membrane disease. Arch Dis Child (1992) 1.22
Family planning requirements in the adult congenital heart disease clinic. Heart (1996) 1.21