Published in Am J Med Genet on January 01, 1979
Structural insight into the functional mechanism of Nep1/Emg1 N1-specific pseudouridine methyltransferase in ribosome biogenesis. Nucleic Acids Res (2010) 1.01
Human diseases of the SSU processome. Biochim Biophys Acta (2013) 0.99
Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs. J Med Genet (1992) 0.81
The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis. Acta Neuropathol (1980) 0.77
Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay. BBA Clin (2014) 0.75
Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena-Shokeir phenotype. Ultrasound (2017) 0.75
Genetic disorders in children and young adults: a population study. Am J Hum Genet (1988) 4.98
Piracetam therapy does not enhance cognitive functioning in children with down syndrome. Arch Pediatr Adolesc Med (2001) 2.72
Age- and gender-related differences in clinical productivity among Canadian pediatricians. Pediatrics (1990) 2.70
Pediatric manpower in Canada: a cross-country survey. CMAJ (1989) 2.61
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet (2001) 2.48
Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics (2000) 2.40
Down syndrome and recent demographic trends in Manitoba. J Med Genet (1978) 2.34
Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet (1978) 2.27
Congenital anomalies in American Indians of British Columbia. Genet Epidemiol (1986) 2.13
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
The British Columbia Registry for Handicapped Children and Adults: evolutionary changes over twenty years. Can J Public Health (1975) 2.00
Down syndrome in British Columbia, 1952-73: incidence and mean maternal age. Teratology (1976) 1.89
A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol (1997) 1.88
Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology. Am J Med Genet (1983) 1.83
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. Am J Med Genet (1992) 1.63
Pediatric medication errors: predicting and preventing tenfold disasters. J Clin Pharmacol (1994) 1.62
Chromosome 6q deletions: a report of two additional cases and a review of the literature. Am J Med Genet (1990) 1.62
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. J Pediatr (1971) 1.56
Black grandmothers in multigenerational households: diversity in family structure and parenting involvement in the Woodlawn community. Child Dev (1990) 1.55
VACTERL with hydrocephalus: further delineation of the syndrome(s) Am J Med Genet (1989) 1.55
Phenotypic correlations in patients with ring chromosome 22. Clin Genet (1977) 1.54
Inheritance of tuberous sclerosis. Lancet (1979) 1.52
HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells. J Biol Chem (2000) 1.50
Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin Genet (1982) 1.49
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. Am J Med Genet (1992) 1.46
Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet (1980) 1.45
A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet (2000) 1.44
Is heart transplantation a wise use of scarce health care dollars? CMAJ (1993) 1.40
Care provided to Madeleine. CMAJ (1996) 1.39
Progressive cerebellar ataxia associated with Hand-Schüller-Christian disease. Dev Med Child Neurol (1971) 1.38
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet (1993) 1.36
Relative frequency of the Hurler and Hunter syndromes. N Engl J Med (1971) 1.35
Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology (1977) 1.33
Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology (1976) 1.33
Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet (1979) 1.31
Counseling problems when twins are discovered at genetic amniocentesis. Clin Genet (1979) 1.28
Incidence rates for cleft lip and palate in British Columbia 1952-71 for North American Indian, Japanese, Chinese and total populations: secular trends over twenty years. Teratology (1977) 1.28
Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. Am J Med Genet (1977) 1.27
Subtle immunologic abnormalities in four boys with subacute sclerosing panencephalitis. N Engl J Med (1971) 1.26
A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus. Genomics (1989) 1.24
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. Am J Med Genet (1983) 1.21
[The campomelic syndrome]. Presse Med (1971) 1.21
Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science (1993) 1.20
Neural tube defects in Eastern Ontario and Western Quebec: demography and family data. Am J Med Genet (1984) 1.19
The Coffin-Lowry syndrome. Experience from four centres. Clin Genet (1982) 1.18
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet (1996) 1.18
Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. Am J Med Genet (1988) 1.18
Micrognathia, polydactyly, and cleft palate. J Pediatr (1968) 1.15
Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet (1973) 1.13
A new familial syndrome with ataxia, hearing loss, and mental retardation. Report of three brothers. Arch Neurol (1973) 1.13
Tentative assignment of piebald trait gene to chromosome band 4q12. Hum Genet (1986) 1.13
Implications of malformations not due to amniotic bands in the amniotic band sequence. Am J Med Genet (1986) 1.11
Classification of perinatal deaths: development of the Australian and New Zealand classifications. J Paediatr Child Health (2004) 1.11
A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet (1978) 1.11
Renal abnormalities in the Russell-Silver syndrome. Pediatrics (1973) 1.11
Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination. J Med Genet (1972) 1.10
Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population. Am J Hum Genet (1989) 1.10
Sweeteners, dyes, and other excipients in vitamin and mineral preparations. Clin Pediatr (Phila) (1996) 1.09
Intracranial hemorrhage in children with idiopathic thrombocytopenic purpura. Pediatrics (1981) 1.08
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet (1985) 1.08
Hypospadias in successive generations - possible dominant gene inheritance. Clin Genet (1976) 1.08
Trisomy-18 mosaicism with features of Russel-Silver syndrome. Dev Med Child Neurol (1975) 1.07
Birth prevalence and recurrence rates of neural tube defects in southern Alberta in 1970-81. CMAJ (1988) 1.07
An epidemiological study of facial clefting in Manitoba. J Med Genet (1980) 1.07
Growth and development in thanatophoric dysplasia. Am J Med Genet (1989) 1.07
An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet (1990) 1.06
The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance. Birth Defects Orig Artic Ser (1977) 1.05
Kinky hair syndrome: response to copper therapy. Pediatrics (1973) 1.05
X-linked mental retardation with macro-orchidism and marker-X chromosomes. Am J Med Genet (1980) 1.05
The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet (1985) 1.03
Hyperprolinaemia in two successive generations of a North American Indian family. Ann Hum Genet (1968) 1.03
Gangrene of the foot following intramuscular injection in the lateral thigh: a case report with recommendations for prevention. J Pediatr (1967) 1.02
Hereditary ectodermal dysplasia. Symptoms, inheritance patterns, differential diagnosis, management. Clin Pediatr (Phila) (1966) 1.01
Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet (1983) 1.01
Sex-linked cleft palate in a British Columbia Indian family. Pediatrics (1970) 1.01
COFS syndrome revisited. Birth Defects Orig Artic Ser (1978) 1.00
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. Am J Med Genet (1985) 0.99
Longevity in Down's syndrome in British Columbia. J Ment Defic Res (1976) 0.98
Geroderma osteodysplastica. A report of two affected families. Hum Genet (1978) 0.97
Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clin Genet (1985) 0.97
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet (1975) 0.97
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A (2010) 0.96
Incidence of phenylketonuria in British Columbia, 1950-1971. Can Med Assoc J (1972) 0.96
Elevation of serum copper following copper sulfate as an emetic. Pediatrics (1968) 0.96
Trigonocephaly and associated minor anomalies in mother and son. J Med Genet (1976) 0.95
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am J Med Genet (1993) 0.94
Multiseptate gallbladder. A cause of recurrent abdominal pain in childhood. Am J Dis Child (1966) 0.94
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. Am J Med Genet (1985) 0.94
Unilateral external oculomotor nerve palsy and nevus sebaceous of Jadassohn. Arch Ophthalmol (1972) 0.94
Incidence of cleft lip and palate in British Columbia Indians. J Med Genet (1969) 0.94
Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis. Am J Med Genet (1993) 0.94
An outbreak of S typhimurium in sheep and its consequences. Vet Rec (1976) 0.93
Abnormality of the hair in cartilage-hair hypoplasia. Dermatologica (1970) 0.93
Amantadine therapy in subacute sclerosing panencephalitis. A preliminary report. Neurology (1969) 0.92
Low rate of adequate folic acid supplementation in well-educated women of high socioeconomic status attending a genetics clinic. CMAJ (2001) 0.92
Mosaic tetrasomy 21 in a liveborn male infant. Clin Genet (1982) 0.92
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology (2001) 0.92
Absent vagina and the Klippel-Feil anomaly. Am J Obstet Gynecol (1974) 0.91