Published in J Pediatr on October 01, 1965
Is there a need to do routine sonological, urodynamic study and cystourethroscopic evaluation of patients with simple hypospadias? Pediatr Surg Int (2010) 1.41
Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings. Pediatr Nephrol (2008) 1.40
Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (1972) 1.35
The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis bases upon cytoarchitectonic analysis. Acta Neuropathol (1978) 1.25
Zellweger syndrome and associated phenotypes. J Med Genet (1996) 0.90
Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis (2015) 0.87
A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease. Acta Neuropathol (1981) 0.85
Detection and incidence of anomalies associated with hypospadias. Pediatr Nephrol (2008) 0.83
Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). Diagn Pathol (2007) 0.75
Recognition of the fetal alcohol syndrome in early infancy. Lancet (1973) 8.57
Pattern of malformation in offspring of chronic alcoholic mothers. Lancet (1973) 7.45
The fetal alcohol syndrome. N Engl J Med (1978) 5.04
Racial differences in the incidence of cardiac arrest and subsequent survival. The CPR Chicago Project. N Engl J Med (1993) 4.97
Technique for measuring 14 CO 2 uptake by soil microorganisms in situ. Appl Microbiol (1972) 3.82
Use of trypsin-modified human erythrocytes in rubella hemagglutination-inhibition testing. Appl Microbiol (1972) 3.81
AIDS risk-group profiles in whites and members of minority groups. N Engl J Med (1986) 3.66
beta-Amyloid precursor protein-deficient mice show reactive gliosis and decreased locomotor activity. Cell (1995) 3.33
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
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
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
Arboviruses causing human disease in the Australasian zoogeographic region. Arch Virol (1994) 3.03
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
Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr (1975) 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
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
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
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
Characteristics of a widespread community cluster of H275Y oseltamivir-resistant A(H1N1)pdm09 influenza in Australia. J Infect Dis (2012) 2.52
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
The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr (1979) 2.46
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
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
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
Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr (1971) 2.11
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
Multidisciplinary approach to deep-seated lesions requiring radiologically-guided fine-needle aspiration. Diagn Cytopathol (1998) 2.04
Value of bronchoalveolar lavage in diagnosing severe respiratory syncytial virus infections in infants. J Pediatr (1991) 2.04
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
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr (1973) 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
Criteria for reporting fine needle aspiration on palpable and nonpalpable masses of the breast. Acta Cytol (1997) 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
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
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
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
The fetal hydantoin syndrome. J Pediatr (1975) 1.80
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
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
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J Pediatr (1974) 1.73
Teratogenic effects of alcohol in humans and laboratory animals. Science (1980) 1.72
Molecular and functional diversity of the expanding GABA-A receptor gene family. Ann N Y Acad Sci (1999) 1.71
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
The fetal alcohol syndrome. Teratology (1975) 1.70
The ecology and epidemiology of Kunjin virus. Curr Top Microbiol Immunol (2002) 1.65
Mechanisms contributing to the deficits in hippocampal synaptic plasticity in mice lacking amyloid precursor protein. Neuropharmacology (1999) 1.60
Isolation of membrane-associated folded chromosomes from Escherichia coli: effect of protein synthesis inhibition. J Bacteriol (1974) 1.60
Methylation of GATC sites is required for precise timing between rounds of DNA replication in Escherichia coli. J Bacteriol (1989) 1.59
Pathogenesis of experimental tuberculosis in animal models. Curr Top Microbiol Immunol (1996) 1.57
Palm computer demonstrates a fast and accurate means of burn data collection. J Burn Care Rehabil (2001) 1.57
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
Shifting linear growth during infancy: illustration of genetic factors in growth from fetal life through infancy. J Pediatr (1976) 1.55
Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J Pediatr (1972) 1.55
theta, a novel gamma-aminobutyric acid type A receptor subunit. Proc Natl Acad Sci U S A (1999) 1.54
Fetal rubella pathology. J Pediatr (1966) 1.54
Chromosomal replication origins (oriC) of Enterobacter aerogenes and Klebsiella pneumoniae are functional in Escherichia coli. J Bacteriol (1982) 1.54
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
Murray Valley encephalitis virus surveillance and control initiatives in Australia. National Arbovirus Advisory Committee of the Communicable Diseases Network Australia. Commun Dis Intell Q Rep (2001) 1.53
Oligohydramnios, cause of the nonrenal features of Potter's syndrome, including pulmonary hypoplasia. J Pediatr (1974) 1.53
Infection with Mycobacterium avium-intracellulare and the protective effects of Bacille Calmette-Guérin. J Infect Dis (1982) 1.53
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
Twin reversed arterial perfusion (TRAP) sequence: a study of 14 twin pregnancies with acardius. Semin Perinatol (1983) 1.50
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 1.50
The Williams elfin facies syndrome. A new perspective. J Pediatr (1975) 1.50
NOVEL Escherichia coli dnaB mutant: direct involvement of the dnaB252 gene product in the synthesis of an origin-ribonucleic acid species during initiaion of a round of deoxyribonucleic acid replication. J Bacteriol (1977) 1.50
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet (1994) 1.50
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
Venous catheter thrombus formation and pulmonary embolism in children. Pediatr Pulmonol (1995) 1.48
Nucleotide sequence of the Salmonella typhimurium origin of DNA replication. Proc Natl Acad Sci U S A (1980) 1.47
Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development. J Pediatr (1966) 1.47
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46
Aerosol transmission of rhinovirus colds. J Infect Dis (1987) 1.45
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
DNA repair in Escherichia coli mutants deficient in DNA polymerases I, II and-or 3. Proc Natl Acad Sci U S A (1974) 1.43
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43
Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl (1986) 1.43
The amino acid/auxin:proton symport permease family. Biochim Biophys Acta (1999) 1.43
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42
The diagnosis of chlamydia, gonorrhoea, and trichomonas infections by self obtained low vaginal swabs, in remote northern Australian clinical practice. Sex Transm Infect (2002) 1.41
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41
The fate of virulent and attenuated Mycobacteria in guinea pigs infected by the respiratory route. Am Rev Respir Dis (1973) 1.41