Published in J Pediatr on January 01, 1982
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Recognition of the fetal alcohol syndrome in early infancy. Lancet (1973) 8.57
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Racial differences in the incidence of cardiac arrest and subsequent survival. The CPR Chicago Project. N Engl J Med (1993) 4.97
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet (1988) 4.84
Technique for measuring 14 CO 2 uptake by soil microorganisms in situ. Appl Microbiol (1972) 3.82
AIDS risk-group profiles in whites and members of minority groups. N Engl J Med (1986) 3.66
The cellular immune response to primary sarcomata in rats. II. Abnormal responses of nodes draining the tumour. Proc R Soc Lond B Biol Sci (1969) 3.54
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Chromosomal replication origin from the marine bacterium Vibrio harveyi functions in Escherichia coli: oriC consensus sequence. Proc Natl Acad Sci U S A (1983) 3.26
The immediate effect of antigens on the cell output of a lymph node. Br J Exp Pathol (1965) 3.16
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
The genesis of dermatoglyphics. J Pediatr (1969) 3.07
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet (1982) 3.06
Arboviruses causing human disease in the Australasian zoogeographic region. Arch Virol (1994) 3.03
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
Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nat Biotechnol (1999) 3.01
The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr (1973) 2.99
The ultrastructure and function of the cells in lymph following antigenic stimulation. J Exp Med (1967) 2.98
Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr (1975) 2.97
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet (2006) 2.97
Properties of the growing point region in the bacterial chromosome. Biochim Biophys Acta (1967) 2.94
Postaxial acrofacial dysostosis syndrome. J Pediatr (1979) 2.93
Emerging viral diseases of Southeast Asia and the Western Pacific. Emerg Infect Dis (2001) 2.91
Intrinsic rhythmic propulsion of lymph in the unanaesthetized sheep. J Physiol (1965) 2.87
Pathogenesis of tuberculosis: pathway to apical localization. Tuber Lung Dis (1994) 2.77
The effects of moderate alcohol consumption during pregnancy on fetal growth and morphogenesis. J Pediatr (1978) 2.72
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Chikungunya infection--an emerging disease in Malaysia. Southeast Asian J Trop Med Public Health (2001) 2.69
Host-parasite relationships in experimental airborne tuberculosis. 3. Relevance of microbial enumeration to acquired resistance in guinea pigs. Am Rev Respir Dis (1970) 2.65
Studies on the lymphocytes of sheep. III. Destination of lymph-borne immunoblasts in relation to their tissue of origin. Eur J Immunol (1977) 2.61
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet (1988) 2.59
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
Monozygotic twinning and structural defects. J Pediatr (1979) 2.58
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
The distribution and differentiation of lymph-borne immunoblasts after intravenous injection into syngeneic recipients. Cell Tissue Kinet (1972) 2.52
Characteristics of a widespread community cluster of H275Y oseltamivir-resistant A(H1N1)pdm09 influenza in Australia. J Infect Dis (2012) 2.52
Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med (1980) 2.50
Resynthesizing evolutionary and developmental biology. Dev Biol (1996) 2.50
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet (2001) 2.48
The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr (1979) 2.46
Design and cohort description of the InterAct Project: an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study. Diabetologia (2011) 2.43
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Host-parasite relationships in experimental airborne tuberculosis. IV. Early events in the course of infection in vaccinated and nonvaccinated guinea pigs. Am Rev Respir Dis (1970) 2.42
Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics (2000) 2.40
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
DNA synthesis in vitro. Nature (1970) 2.37
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
Studies of the cells in the afferent and efferent lymph of lymph nodes draining the site of skin homografts. J Exp Med (1967) 2.31
Host-parasite relationships in experimental airborne tuberculosis. II. Reproducible infection by means of an inoculum preserved at -70 C. J Bacteriol (1967) 2.29
Outcome in offspring of chronic alcoholic women. Lancet (1974) 2.27
Chromosome maps of man and mouse. IV. Ann Hum Genet (1989) 2.25
Noonan syndrome: the changing phenotype. Am J Med Genet (1985) 2.24
DNA banks for endangered animal species. Science (2000) 2.24
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem (1998) 2.23
Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. Am J Med Genet (1981) 2.23
Poor postnatal weight gain: a risk factor for severe retinopathy of prematurity. J AAPOS (2000) 2.19
Congenital anomalies in American Indians of British Columbia. Genet Epidemiol (1986) 2.13
Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr (1971) 2.11
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06
Value of bronchoalveolar lavage in diagnosing severe respiratory syncytial virus infections in infants. J Pediatr (1991) 2.04
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet (1980) 2.02
Brain malformations related to prenatal exposure to ethanol. J Pediatr (1978) 2.00
Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome. J Pediatr (1976) 2.00
Terathanasia, folic acid, and birth defects. Lancet (1997) 2.00
The British Columbia Registry for Handicapped Children and Adults: evolutionary changes over twenty years. Can J Public Health (1975) 2.00
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr (1973) 1.98
Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr (1983) 1.98
Genetic counseling for adoptees at risk for specific inherited disorders. Am J Med Genet (1980) 1.98
Temporal sequence of events during the initiation process in Escherichia coli deoxyribonucleic acid replication: roles of the dnaA and dnaC gene products and ribonucleic acid polymerase. J Bacteriol (1977) 1.98
The cellular immune response to primary sarcomata in rats. I. The significance of large basophilic cells in the thoracic duct lymph following antigenic challenge. Proc R Soc Lond B Biol Sci (1969) 1.97
The frequency and financial burden of genetic disease in a pediatric hospital. Am J Med Genet (1978) 1.97
Multiple pregnancy. 1. N Engl J Med (1973) 1.96
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
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet (1993) 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
Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet (1982) 1.91
Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. Hum Mol Genet (1995) 1.91
Down syndrome in British Columbia, 1952-73: incidence and mean maternal age. Teratology (1976) 1.89
The homing of lymph-borne immunoblasts to the small gut of neonatal rats. Transplantation (1972) 1.89
Age-related cognitive deficits, impaired long-term potentiation and reduction in synaptic marker density in mice lacking the beta-amyloid precursor protein. Neuroscience (1999) 1.88
Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J Clin Endocrinol Metab (1997) 1.88
Presence of Staphylococcus aureus with reduced susceptibility to vancomycin in Germany. Eur J Clin Microbiol Infect Dis (1999) 1.87
The transport by hepatocytes of immunoglobulin A from blood to bile visualized by autoradiography and electron microscopy. Immunology (1979) 1.86
Femoral hypoplasia--unusual facies syndrome. J Pediatr (1975) 1.84
Isolation and mapping of plasmids containing the Salmonella typhimurium origin of DNA replication. Proc Natl Acad Sci U S A (1979) 1.84
Fetal syphilis in the first trimester. Am J Obstet Gynecol (1976) 1.84
Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology. Am J Med Genet (1983) 1.83
The fetal hydantoin syndrome. J Pediatr (1975) 1.80
A dietary pattern protective against type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)--Potsdam Study cohort. Diabetologia (2005) 1.79
An invasive cleavage assay for direct quantitation of specific RNAs. Nat Biotechnol (2001) 1.79
European multicentre evaluation of a commercial system for identification of methicillin-resistant Staphylococcus aureus. Eur J Clin Microbiol Infect Dis (1996) 1.79
Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet (2002) 1.79
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics (1966) 1.79
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
Importance of state of methylation of oriC GATC sites in initiation of DNA replication in Escherichia coli. EMBO J (1985) 1.77
Comparative pathology of silicate pneumoconiosis. Am J Pathol (1979) 1.76