Published in Am J Dis Child on December 01, 1972
Limbal palisades of Vogt. Trans Am Ophthalmol Soc (1982) 1.56
Clinical experience with trisomies 18 and 13. J Med Genet (1978) 1.27
The Mystery of Handprints: Assesment and Correlation of Dermatoglyphics with Early Childhood Caries A Case-Control Study. J Clin Diagn Res (2015) 0.85
Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials. Clin Infect Dis (2014) 0.80
Dermatoglyphic analysis of fetuses with chromosomal abnormalities. Am J Hum Genet (1980) 0.75
Genetic counseling. Am J Hum Genet (1974) 4.86
Studies on the Effect of X Chromosome Inversions on Crossing over in the Third Chromosome of Drosophila Melanogaster. Genetics (1944) 3.21
The genetics of cleft lip and cleft palate. Am J Hum Genet (1970) 2.94
Noonan syndrome: the changing phenotype. Am J Med Genet (1985) 2.24
Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". Am J Med Genet (1981) 2.24
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
Spectrum of anomalies in Fanconi anaemia. J Med Genet (1982) 1.93
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Cranio-carpo-tarsal dysplasia. Report of a case in father and son. JAMA (1970) 1.83
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. J Med Genet (1979) 1.65
The Williams syndrome: objective definition and diagnosis. Clin Genet (1984) 1.60
A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet (1972) 1.55
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet (1980) 1.55
Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome. J Pediatr (1976) 1.53
Genetic counseling--the postcounseling period: I. Parents' perceptions of uncertainty. Am J Med Genet (1979) 1.45
The multifactorial/threshold concept -- uses and misuses. Teratology (1976) 1.45
Increased frequency of neural tube defects in sibs of children with other malformations. Lancet (1982) 1.41
Hereditary factors in atrial septal defect. Circulation (1967) 1.40
Association between Alzheimer disease and amyotrophic lateral sclerosis? Can J Neurol Sci (1990) 1.40
A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am J Dis Child (1971) 1.36
Genetics as a health-care service. N Engl J Med (1976) 1.33
Epidemiological studies of neural tube defects in Newfoundland. Teratology (1987) 1.32
Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? J Med Genet (1977) 1.27
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet (1978) 1.27
Hormone treatment during pregnancy and congenital heart defects. Lancet (1973) 1.26
A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. J Cell Biol (1971) 1.24
Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter. J Bone Joint Surg Br (1971) 1.22
Genetics of hereditary nephropathy with deafness (Alport's disease). Clin Genet (1971) 1.22
Relation of face shape to susceptibility to congenital cleft lip. A preliminary report. J Med Genet (1970) 1.21
The susceptibility to cortisone-induced cleft palate of recombinant inbred strains of mice: lack of association with the H-2 haplotype. Genet Res (1981) 1.20
Genetic counseling: provision and reception of information. Am J Med Genet (1979) 1.15
Differential diagnosis of the Williams and the Noonan syndromes. Clin Genet (1984) 1.13
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. Am J Med Genet (1986) 1.13
A familial association between twinning and upper-neural tube defects. Am J Hum Genet (1994) 1.12
The Marshall and Stickler syndromes: objective rejection of lumping. J Med Genet (1984) 1.11
Hydrotic ectodermal dysplasia--Clouston's family revisited. Can Med Assoc J (1967) 1.09
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet (1996) 1.09
A diagnostic index for Down syndrome. Clin Genet (1977) 1.09
Nutritional patterns of mothers of children with neural tube defects in Newfoundland. Am J Med Genet (1995) 1.08
Seasonal variation of neural tube defects in Newfoundland and elsewhere. Teratology (1986) 1.07
Neural tube defects in sibs of children with tracheo-oesophageal dysraphism. Lancet (1980) 1.05
The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. Clin Genet (1973) 1.05
Recurrence risk for sibs of children with "sporadic" achondroplasia. Am J Med Genet (2000) 1.03
Are 'upper' and 'lower' neural tube defects aetiologically different? J Med Genet (1988) 1.03
Definition and diagnosis of the Brachmann-De Lange syndrome. Am J Med Genet (1983) 1.03
The inheritance of the Aarskog facial-digital-genital syndrome. J Pediatr (1975) 1.02
Etiology and pathogenesis of congenital cleft lip and cleft palate, an NIDR state of the art report. Teratology (1972) 1.02
Inheritance of the Aarskog syndrome. Birth Defects Orig Artic Ser (1974) 1.02
The William Allan Memorial Award Address: evolution of a palatable multifactorial threshold model. Am J Hum Genet (1980) 1.01
Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome. Am J Dis Child (1977) 0.98
Estimating the risks for offspring of first-cousin matings. An approach. Am J Hum Genet (1976) 0.97
Familial holoprosencephaly. Birth Defects Orig Artic Ser (1971) 0.97
Genetic counseling: parents' responses to uncertainty. Birth Defects Orig Artic Ser (1979) 0.96
Role of the tongue in producing cleft palate in mice with spontaneous cleft lip. Dev Biol (1963) 0.95
Possible teratogenicity of maternal fever. Lancet (1978) 0.94
Inidcations for prenatal diagnosis in relatives of patients with neural tube defects. Obstet Gynecol (1978) 0.94
Counseling in genetics: its intent and scope. Birth Defects Orig Artic Ser (1970) 0.94
The syndrome of retardation with urogenital and skeletal anomalies in siblings. J Pediatr (1966) 0.94
The C syndrome. Birth Defects Orig Artic Ser (1975) 0.94
A taxonomic approach to the del(4p) phenotype. Am J Med Genet (1985) 0.94
A spinal arteriovenous malformation with hereditary cutaneous hemangiomas. Am J Dis Child (1976) 0.93
Evidence against a female specific class of neural tube defect. J Med Genet (1983) 0.93
Possible examples of the goltz syndrome (focal dermal hypoplasia) without linear areas of skin hypoplasia. Birth Defects Orig Artic Ser (1982) 0.92
The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins. J Neurol Sci (1987) 0.92
Birth rates in families following birth of a child with mongolism. Am J Ment Defic (1968) 0.91
Letter: Chelating agents and teratogenesis. Lancet (1973) 0.91
Formal analysis of dysmorphism: objective methods of syndrome definition. Clin Genet (1983) 0.91
Paternal age and congenital cleft lip and cleft palate. Teratology (1972) 0.90
Introduction: the development of genetic counseling. Birth Defects Orig Artic Ser (1979) 0.90
Etiologic relations among categories of congenital heart malformations. Am J Cardiol (1975) 0.90
The cerebro-oculo-facio-skeletal syndrome. Clin Genet (1974) 0.90
Variability of serum creatine phosphokinase activity in normal women and carriers of the gene for Duchenne muscular dystrophy. Neurology (1973) 0.89
Cleft lip and cleft palate. Science (1967) 0.89
Dermatoglyphics in congenital heart malformations. Hum Hered (1970) 0.89
Genetics of cortisone-induced cleft palate in the mouse-embryonic and maternal effects. Genetics (1976) 0.88
Folic acid and neural tube defects. CMAJ (1995) 0.88
A screening test for patients suspected of having Turner syndrome. Clin Genet (1976) 0.88
Mandibular growth retardation as a cause of cleft palate in mice homozygous for the chondrodysplasia gene. J Embryol Exp Morphol (1977) 0.87
Early changes in the mouse neuroepithelium preceding exencephaly induced by hypervitaminosis A. Teratology (1978) 0.86
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur J Hum Genet (2000) 0.86
Familial occurrence of the Williams syndrome. J Pediatr (1977) 0.86
An oculocerebral hypopigmentation syndrome. J Genet Hum (1983) 0.86
Upper and lower neural tube defects: an alternate hypothesis. J Med Genet (1993) 0.85
The numerical versus intuitive approach to syndrome nosology. Birth Defects Orig Artic Ser (1980) 0.85
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? Am J Med Genet (1983) 0.85
A "community" of face-limb malformation syndromes. J Pediatr (1976) 0.85
A maternal effect on the frequency of spontaneous cleft lip in the A-J mouse. Teratology (1969) 0.85
Oligohydramnios and cortisone-induced cleft palate in the mouse. Nature (1967) 0.84
Variability of the de Lange syndrome: report of 3 cases and genetic analysis of 54 families. J Pediatr (1969) 0.84
Effect of the uterine environment on the frequency of spontaneous cleft lip in CL/FR mice. Teratology (1970) 0.83
Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: variant, or new syndrome? Am J Med Genet (1991) 0.83