Published in Birth Defects Orig Artic Ser on January 01, 1975
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet (2005) 2.17
Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res (2010) 1.88
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. Proc Natl Acad Sci U S A (2011) 1.21
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. J Biol Chem (2011) 1.10
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. J Clin Endocrinol Metab (2009) 1.03
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. Drug Metab Dispos (2009) 1.02
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet (2000) 1.01
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. Arch Biochem Biophys (2008) 0.97
Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenet Genomics (2009) 0.91
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. Eur J Pediatr (2008) 0.89
NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology. Drug Metab Dispos (2012) 0.88
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab (2010) 0.83
Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations. Pharmacogenomics (2012) 0.81
Antley-Bixler syndrome with radioulnar synostosis. Pediatr Radiol (2003) 0.80
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. Drug Metab Dispos (2012) 0.80
Shprintzen-Goldberg syndrome: a rare disorder. Pan Afr Med J (2016) 0.79
Use of the term "Antley-Bixler syndrome": minimizing confusion. Am J Hum Genet (2005) 0.79
A case of antley-bixler syndrome. J Clin Neonatol (2012) 0.75
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. Am J Case Rep (2015) 0.75
Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia. Pediatr Radiol (2005) 0.75
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14
Salivary and pancreatic amylase: electrophoretic characterizations and genetic studies. Am J Hum Genet (1973) 3.12
Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet (1980) 2.51
Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet (1986) 2.23
A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol (1973) 2.16
Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. Pediatrics (1990) 1.92
Multiple pterygium syndrome. Am J Dis Child (1978) 1.71
The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. Clin Genet (1972) 1.63
Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol (1985) 1.37
Human salivary amylase: genetics of electrophoretic variants. Am J Hum Genet (1971) 1.33
Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser (1974) 1.30
Incidence of cleft lip and palate in the offspring of cleft parents. Clin Genet (1971) 1.29
Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet (1976) 1.28
Simplified method for collection of pure submandibular saliva in large volumes. J Dent Res (1968) 1.28
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. Clin Genet (1984) 1.27
Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child (1987) 1.26
Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21
Cleft palate: a genetic and epidemiologic investigation. Clin Genet (1981) 1.20
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet (1977) 1.18
On the classification of the acrocephalosyndactyly syndromes. Clin Genet (1977) 1.15
Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser (1975) 1.09
Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child (1969) 1.07
Periodontosis: a phenotypic and genetic analysis. Oral Surg Oral Med Oral Pathol (1976) 1.07
Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser (1975) 1.01
Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team. Epidemiol Infect (2008) 0.99
Possible localization of a major gene for cleft lip and palate to 4q. Clin Genet (1994) 0.98
Facial clefts in Danish twins. Cleft Palate J (1979) 0.97
Facial clefting: an alternative biologic explanation for its complex etiology. Birth Defects Orig Artic Ser (1977) 0.96
Genetics and clefting. Cleft Palate J (1981) 0.95
Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol (1983) 0.93
Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome? Birth Defects Orig Artic Ser (1976) 0.92
Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. Am J Med Genet (1990) 0.91
Human parotid proline-rich proteins: correlation of genetic polymorphisms to dental caries. Genet Epidemiol (1986) 0.90
Linkage studies in Van der Woude syndrome. J Med Genet (1978) 0.89
Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am J Med Genet (1983) 0.89
Studies of cleft lip and cleft palate in the population of Denmark. Prog Clin Biol Res (1980) 0.88
The effects of changing caries prevalence and diagnostic criteria on clinical caries trials. Caries Res (1983) 0.87
Fetal mortality in oral cleft families (IX): factors relating to the occurrence of sporadic clefts. Clin Genet (1984) 0.87
Gingival fibromatosis with sensorineural hearing loss: an autosomal dominant trait. Am J Med Genet (1985) 0.86
A study of cephalometric features in cleft lip-cleft palate families. I: Phenotypic heterogeneity and genetic predisposition in parents of sporadic cases. Cleft Palate J (1989) 0.85
Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome. Am J Med Genet Suppl (1986) 0.85
Cephalometric evidence for a dominantly inherited predisposition to cleft lip-cleft palate in a single large kindred. Am J Med Genet (1994) 0.85
Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. J Craniofac Genet Dev Biol (1992) 0.83
Interradicular dentin dysplasia associated with amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol (1985) 0.83
Periodontal disease in diabetics. J Periodontol (1967) 0.82
Anthropometric analysis of the face in hypohidrotic ectodermal dysplasia: a family study. Am J Phys Anthropol (1987) 0.82
Analysis of intrafamilial correlations, serum levels of IGM and the human X-chromosome. Hum Hered (1979) 0.82
X-linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic, and histopathologic report. J Prosthet Dent (1991) 0.82
Microcephalic dwarfism in sisters. Birth Defects Orig Artic Ser (1974) 0.82
Bilateral macrostomia in one of monozygotic twins. Oral Surg Oral Med Oral Pathol (1984) 0.82
Serum alkaline phosphatase: normal values by sex and age. Clin Chem (1977) 0.82
The human X-chromosome and the levels of serum immunoglobulin M. Clin Genet (1979) 0.81
Oral manifestations of acute leukemia in children. J Am Dent Assoc (1977) 0.81
Dentinogenesis imperfecta: genetic variations in a six-generation family. J Dent Res (1970) 0.80
Gustatory lacrimation in association with the branchio-oto-renal syndrome. Clin Genet (1985) 0.80
Fetal mortality associated with cleft lip and cleft palate. Johns Hopkins Med J (1982) 0.80
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. Clin Genet (1977) 0.80
Blood and urinary fluoride studies following the ingestion of single dosages of fluoride. J Oral Ther Pharmacol (1966) 0.79
The syndrome of multisynostotic osteodysgenesis with long-bone fractures. Am J Med Genet (1980) 0.79
The effectiveness of iontophoresis in reducing cervical hypersensitivity. J Periodontol (1971) 0.78
Genetic counseling in dentistry. Dent Clin North Am (1975) 0.78
Bone dysplasias: the prenatal diagnostic challenge. Am J Med Genet (1990) 0.78
Agnathia-holoprosencephaly: a developmental field complex involving face and brain. Report of 3 cases. J Craniofac Genet Dev Biol Suppl (1985) 0.78
Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations. Radiology (1977) 0.78
Cleft lip, cleft palate, and congenital fistulas of the lower lip. Report of a familial occurrence. Oral Surg Oral Med Oral Pathol (1967) 0.78
Radiographic hand abnormalities in fifteen cases of Crouzon syndrome. J Craniofac Genet Dev Biol (1982) 0.77
Fetal mortality in oral cleft families: data from Indiana and Montreal. Clin Genet (1983) 0.77
Fetal mortality and cleft lip with or without cleft palate. Clin Genet (1983) 0.77
An incident of familial cancer, including 3 cases of osteogenic sarcoma. Cancer (1970) 0.77
Multifactorial threshold concept. Teratology (1978) 0.76
Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. Am J Med Genet (1993) 0.76
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. Oral Surg Oral Med Oral Pathol (1981) 0.76
Genetic counseling in dentistry. J Dent Educ (1976) 0.76
Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. Am J Med Genet (1988) 0.76
Dominantly inherited syndromic blepharophimosis. Am J Med Genet (1989) 0.75
Cleft lip and dermatoglyphic asymmetry. Am J Hum Genet (1977) 0.75
Linkage analysis in dominant acrocephalosyndactyly. J Med Genet (1978) 0.75
Amelogenesis imperfecta and genetic counseling. J Oral Med (1974) 0.75
Popliteal pterygium syndrome in monozygous twins. Birth Defects Orig Artic Ser (1974) 0.75
Renal agenesis with meningomyelocele and absence of Müllerian structures. Am J Med Genet (1988) 0.75
Fetal mortality in oral cleft families (VI): a search for early embryonic and zygotic mortality. Clin Genet (1983) 0.75
Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome. Birth Defects Orig Artic Ser (1971) 0.75
Fetal mortality in oral cleft families (VII): Birth intervals. Clin Genet (1984) 0.75
Immunological and chemical comparison on heterogeneous basic glycoproteins in human parotid saliva. Biochim Biophys Acta (1971) 0.75
Birth intervals in oral cleft families. Clin Genet (1985) 0.75
[Juvenile polyposis of the colon]. Ann Radiol (Paris) (1976) 0.75
Uncritical use of the expression multifactorial threshold inheritance. Clin Genet (1976) 0.75
Clouston syndrome: an ultrastructural study. Clin Genet (1983) 0.75
Dentistry in Denmark. Alumni Bull Sch Dent Indiana Univ (1972) 0.75
Fetal craniofacial morphometrics: in utero evaluation at 16 weeks' gestation. Obstet Gynecol (1988) 0.75
Fetal mortality in oral cleft families (X): a response. Clin Genet (1985) 0.75
Fetal mortality in oral cleft families (V): Studies of sporadic vs familial and pure vs syndromic clefts. Clin Genet (1984) 0.75
Stickler syndrome: a cephalometric study of the face. J Craniofac Genet Dev Biol (1983) 0.75
Fetal mortality in oral cleft families(IV): the "doubling effect". Clin Genet (1983) 0.75
The dentist as a counselor in problems of human genetics. Alumni Bull Sch Dent Indiana Univ (1970) 0.75
Cherubism: a family study to delineate gene action on mandibular growth and development. Birth Defects Orig Artic Ser (1971) 0.75
Pierre Robin syndrome occurring in two related sibships. Birth Defects Orig Artic Ser (1971) 0.75
Histochemical observations of hypophosphatasia. J Dent Res (1972) 0.75
Velopharyngeal variations in relatives of cleft-affected individuals. J Craniofac Genet Dev Biol (1985) 0.75
Autosomal dominant blepharophimosis with multiple congenital anomalies. J Clin Dysmorphol (1984) 0.75