Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

The Metabolic Basis of Inherited Disease.

(1988) · Annals of Internal Medicine · doi:10.7326/0003-4819-108-3-503_7 · Cited by 7,807 · see citing works

Goodman and Gilman's the Pharmacological Basis of Therapeutics

Stigelman, W. H., & Pharm, D. (1986) · Military Medicine · doi:10.1093/milmed/151.1.386 · Cited by 6,796 · see citing works

Goodman and Gilman's The Pharmacological Basis of Therapeutics

Hastings, R. C. (1996) · JAMA · doi:10.1001/jama.1996.03540120077042 · Cited by 2,386 · see citing works

Congenital Adrenal Hyperplasia

Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,409 · see citing works

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Shiang, R., Thompson, L., Zhu, Y.-Z., Church, D., Fielder, T., Bocian, M., Winokur, S., & Wasmuth, J. (1994) · Cell · doi:10.1016/0092-8674(94)90302-6 · Cited by 1,291 · see citing works

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J., Maroteaux, P., Merrer, M. L., & Munnich, A. (1994) · Nature · doi:10.1038/371252a0 · Cited by 920 · see citing works

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 774 · see citing works

Mendelian Inheritance in Man

McKusick, V. A. (1998) · Johns Hopkins University Press eBooks · doi:10.56021/9780801857423 · Cited by 769 · see citing works

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

Reardon, W., Winter, R., Rutland, P., Pulleyn, L., Jones, B., & Malcolm, S. (1994) · Nature Genetics · doi:10.1038/ng0994-98 · Cited by 746 · see citing works

Oral Azole Drugs as Systemic Antifungal Therapy

Wood, A. J. J., Como, J. A., & Dismukes, W. E. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401273300407 · Cited by 595 · see citing works

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Tavormina, P. L., Shiang, R., Thompson, L., Zhu, Y.-Z., Wilkin, D. J., Lachman, R., Wilcox, W., Rimoin, D., Cohn, D., & Wasmuth, J. (1995) · Nature Genetics · doi:10.1038/ng0395-321 · Cited by 591 · see citing works

Craniosynostosis: genes and mechanisms

Wilkie, A. O. M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1647 · Cited by 523 · see citing works

Ketoconazole blocks adrenal steroidogenesis by inhibiting cytochrome P450-dependent enzymes.

Loose, D. S., Kan, P. B., HIRST, M. A., Marcus, R., & Feldman, D. (1983) · Journal of Clinical Investigation · doi:10.1172/jci110903 · Cited by 443 · see citing works

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Rutland, P., Pulleyn, L., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R., Oldridge, M., Slaney, S., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-173 · Cited by 443 · see citing works

Congenital Adrenal Hyperplasia

Levy, J. B., & Husmann, D. A. (1996) · The Journal of Urology · doi:10.1097/00005392-199608001-00060 · Cited by 416 · see citing works

The use of ketoconazole as an inhibitor of steroid production

Oates, J. A., Wood, A. J. J., & Sonino, N. (1987) · New England Journal of Medicine · doi:10.1056/nejm198709243171307 · Cited by 395 · see citing works

The Heparan Sulfate–Fibroblast Growth Factor Family: Diversity of Structure and Function

McKeehan, W. L., Wang, F., & Kan, M. (1997) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(08)61031-4 · Cited by 392 · see citing works

Mendelian Inheritance in Man

(2006) · Springer eBooks · doi:10.1007/3-540-29623-9_282 · Cited by 362 · see citing works

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

Church, D. M., Stotler, C., Rutter, J. L., Murrell, J. R., Trofatter, J. A., & Buckler, A. (1994) · Nature Genetics · doi:10.1038/ng0194-98 · Cited by 271 · see citing works

Fluconazole-induced congenital anomalies in three infants

Pursley, T. J., Blomquist, I. K., Abraham, J., Andersen, H. F., & Bartley, J. A. (1996) · Clinical Infectious Diseases · doi:10.1093/clinids/22.2.336 · Cited by 246 · see citing works

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Meyers, G. A., Day, D., Goldberg, R. B., Daentl, D. L., Przylepa, K. A., Abrams, L., Graham, J., Feingold, M., Moeschler, J. B., Rawnsley, E. F., et al. (1996) · PubMed Central · Cited by 165 · see citing works

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

Munro, C. S., & Wilkie, A. O. M. (1998) · The Lancet · doi:10.1016/s0140-6736(05)60820-3 · Cited by 158 · see citing works

Specificity for Fibroblast Growth Factors Determined by Heparan Sulfate in a Binary Complex with the Receptor Kinase

Kan, M., Wu, X., Wang, F., & McKeehan, W. L. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.22.15947 · Cited by 149 · see citing works

Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.

Galvin, B. D., Hart, K. C., Meyer, A. N., Webster, M. K., & Donoghue, D. J. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.15.7894 · Cited by 144 · see citing works

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.

Antley, R. M., & Bixler, D. (1975) · PubMed · Cited by 129 · see citing works

Prospective assessment of pregnancy outcomes after first-trimester exposure to fluconazole

Mastroiacovo, P., Mazzone, T., Botto, L. D., Serafini, M. A., Finardi, A., Caramelli, L., & Fusco, D. (1996) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(96)70119-9 · Cited by 111 · see citing works

Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

Morell, R. J., Spritz, R. A., Ho, L., Pierpont, J. W., Guo, W., Friedman, T. B., & Asher, J. H. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.5.659 · Cited by 103 · see citing works

Divalent Cations and Heparin/Heparan Sulfate Cooperate to Control Assembly and Activity of the Fibroblast Growth Factor Receptor Complex

Kan, M., Wang, F., Kan, M., To, B., Gabriel, J. L., & McKeehan, W. L. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.42.26143 · Cited by 102 · see citing works

Congenital malformations in an infant born to a woman treated with fluconazole.

Be, L., Feinberg, M., Jj, A., & Ar, M. (1992) · PubMed · Cited by 94 · see citing works

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome

Gorry, M. C., Preston, R. A., White, G. J., Zhang, Y., Singhal, V. K., Losken, H. W., Parker, M. G., Nwokoro, N. A., Post, J. C., & Ehrlich, G. D. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.8.1387 · Cited by 90 · see citing works

CONGENITAL MALFORMATIONS IN AN INFANT BORN TO A WOMAN TREATED WITH FLUCONAZOLE

&NA; (1992) · The Pediatric Infectious Disease Journal · doi:10.1097/00006454-199211120-00017 · Cited by 86 · see citing works

Spectrum of Craniosynostosis Phenotypes Associated with Novel Mutations at the Fibroblast Growth Factor Receptor 2 Locus

Pulleyn, L. J., Reardon, W., Wilkes, D. C., Rutland, P., Jones, B. M., Hayward, R. D., Hall, C. M., Brueton, L. A., Chun, N., Lammer, E. J., et al. (1996) · European Journal of Human Genetics · doi:10.1159/000472215 · Cited by 79 · see citing works

Steroid-induced epithelial-fibroblastic conversion associated with syndecan suppression in S115 mouse mammary tumor cells.

Leppä, S., Härkönen, P. L., & Jalkanen, M. (1991) · Cell Regulation · doi:10.1091/mbc.2.1.1 · Cited by 78 · see citing works

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

Gripp, K. W., Stolle, C. A., McDonald‐McGinn, D. M., Markowitz, R. I., Bartlett, S. P. P., Katowitz, J. A., Muenke, M., & Zackai, E. H. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980724)78:4 · Cited by 76 · see citing works

Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne

Ostlere, L. S., Rumsby, G., Holownia, P., Jacobs, H. S., Rustin, M. H. A., & Honour, J. W. (1998) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1998.00381.x · Cited by 70 · see citing works

Requirement for Anticoagulant Heparan Sulfate in the Fibroblast Growth Factor Receptor Complex

McKeehan, W. L., Wu, X., & Kan, M. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.31.21511 · Cited by 69 · see citing works

Antley-Bixler syndrome

Crisponi, G., PORCU, C., & PIU, M. E. (1997) · Clinical Dysmorphology · doi:10.1097/00019605-199701000-00011 · Cited by 65 · see citing works

Safety of fluconazole in the treatment of vaginal candidiasis

Inman, W. H. W., Pearce, G. L., & Wilton, L. (1994) · European Journal of Clinical Pharmacology · doi:10.1007/bf00199872 · Cited by 62 · see citing works

Genotype‐phenotype analysis in late onset 21‐hydroxylase deficiency in comparison to the classical forms

Rumsby, Avey, Conway, & Honour (1998) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1998.00402.x · Cited by 59 · see citing works

Fluconazole (Diflucan®): a review

Zervos, M., & Meunier, F. (1993) · International Journal of Antimicrobial Agents · doi:10.1016/0924-8579(93)90009-t · Cited by 59 · see citing works

Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus

Schinzel, A., Savoldelli, G., Briner, J., Sigg, P., Massini, C., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320140119 · Cited by 55 · see citing works

Fluconazole and testosterone: in vivo and in vitro studies

Hanger, D. P., Jevons, S., & Shaw, J. T. B. (1988) · Antimicrobial Agents and Chemotherapy · doi:10.1128/aac.32.5.646 · Cited by 52 · see citing works

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome

Tartaglia, M., Valeri, S., Velardi, F., Rocco, C. D., & Battaglia, P. A. (1997) · Human Genetics · doi:10.1007/s004390050413 · Cited by 52 · see citing works

The syndrome of multisynostotic osteodysgenesis with long‐bone fractures

Delozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E., & Optiz, J. M. (1980) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320070322 · Cited by 43 · see citing works

A Homeo-interaction Sequence in the Ectodomain of the Fibroblast Growth Factor Receptor

Wang, F., Kan, M., McKeehan, K. A., Jang, J.-H., Feng, S., & McKeehan, W. L. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.38.23887 · Cited by 40 · see citing works

Pfeiffer syndrome type 2: Further delineation and review of the literature

Plomp, A. S., Hamel, B. C. J., Cobben, J. M., Verloès, A., Offermans, J. P. M., Lajeunie, E., Fryns, J. P., & de Die-Smulders, C. E. M. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980123)75:3 · Cited by 39 · see citing works

Steroid Profiling

Honour, J. W. (1997) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/000456329703400106 · Cited by 37 · see citing works

Fibroblast Growth Factor Receptor‐2 Mutations in Craniosynostosisa

Malcolm, S., & Reardon, W. (1996) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1996.tb56255.x · Cited by 30 · see citing works

molecular pathology of syndromic craniosynostosis

Reardon, W., & Winter, R. M. (1995) · Molecular Medicine Today · doi:10.1016/s1357-4310(95)90837-4 · Cited by 27 · see citing works

Dexamethasone increases heparan sulfate proteoglycan core protein content of glomerular epithelial cells.

Kasinath, B. S., Singh, A. K., Kanwar, Y. S., & Lewis, E. J. (1990) · PubMed · Cited by 24 · see citing works

Antley-Bixler syndrome in a sister and brother

Suzuki, K., Kanda, Y., Sugiyama, K., Katoh, T., Wada, Y., & Yasui, Y. (1987) · The Japanese Journal of Human Genetics · doi:10.1007/bf01876879 · Cited by 19 · see citing works

The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

Leheup, B., Masutti, J.-P., Droullé, P., & Tisserand, J. (1995) · European Journal of Pediatrics · doi:10.1007/bf01991916 · Cited by 19 · see citing works

Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families.

Iughetti, P., Otto, P., Zatz, M., Bueno, M. R., & Marie, S. (1998) · American journal of medical genetics · doi:10.1002/(sici)1096-8628(19980518)77:3 · Cited by 19 · see citing works

Bone marrow stromal proteoglycan heterogeneity: Phenotypic variability between cell lines and the effects of glucocorticoid

BENTLEY, S. A., Kirby, S. L., Anklesaria, P. N., & Greenberger, J. S. (1988) · Journal of Cellular Physiology · doi:10.1002/jcp.1041360124 · Cited by 19 · see citing works

The first case of the Antley-Bixler syndrome with a consanguinity in Japan

Yasui, Y., Yamaguchi, A., Itoh, Y., Ueke, T., Sugiyama, K., & Wada, Y. (1983) · The Japanese Journal of Human Genetics · doi:10.1007/bf01876602 · Cited by 18 · see citing works

Antley‐Bixler syndrome and esophageal atresia in a patient with trisomy 21

Feigin, E., Udassin, R., Seror, D., Szold, A., Neriah, Z. B., & Glick, B. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb03922.x · Cited by 17 · see citing works

Antley‐Bixler syndrome from a prognostic perspective

DeLozier-Blanchet, C. D., & Reynolds, J. F. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320320227 · Cited by 15 · see citing works

Patient described by Chun et al. may not present Antley-Bixler syndrome

Gorlin, R. J. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990305)83:1 · Cited by 12 · see citing works

A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis

Kumar, D., & Masel, J. (1997) · Clinical Genetics · doi:10.1111/j.1399-0004.1997.tb02511.x · Cited by 9 · see citing works

Antley-Bixler syndrome: case report and review of the literature.

Poddevin, F., Delobel, B., Courrèges, P., & Bayart, M. (1995) · PubMed · Cited by 8 · see citing works

Untitled work

Aleck (1997) · doi:10.1002/(sici)1096-8628(19971031)72:3

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics · doi:10.1038/ng1300 · Cited by 509 · see citing works

Malformation syndromes caused by disorders of cholesterol synthesis

Porter, F. D., & Herman, G. E. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r009548 · Cited by 473 · see citing works

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

Arlt, W., Walker, E. A., Draper, N., Ivison, H. E., Ride, J. P., Hammer, F., Chalder, S. M., Borucka-Mankiewicz, M., Hauffa, B. P., Malunowicz, E. M., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16503-3 · Cited by 345 · see citing works

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Vliet, G. V., Sack, J., Flück, C. E., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429417 · Cited by 336 · see citing works

NADPH P450 oxidoreductase: Structure, function, and pathology of diseases

Pandey, A. V., & Flück, C. E. (2013) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2013.01.010 · Cited by 279 · see citing works

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

Kan, S.-H., Elanko, N., Johnson, D., Cornejo-Roldan, L., Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, S. R. F., Rannan-Eliya, S., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/338758 · Cited by 265 · see citing works

FGFs, their receptors, and human limb malformations: Clinical and molecular correlations

Wilkie, A. O. M., Patey, S. J., Kan, S., van den Ouweland, A. M. W., & Hamel, B. C. J. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10775 · Cited by 202 · see citing works

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes

Herman, G. E. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg072 · Cited by 189 · see citing works

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients

Fukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Okuyama, T., Nakai, H., Soneda, S., Tachibana, K., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0810 · Cited by 155 · see citing works

NADPH–Cytochrome P450 Oxidoreductase: Roles in Physiology, Pharmacology, and Toxicology

Riddick, D. S., Ding, X., Wolf, C. R., Porter, T. D., Pandey, A. V., Zhang, Q., Gu, J., Finn, R. D., Ronseaux, S., McLaughlin, L. A., et al. (2012) · Drug Metabolism and Disposition · doi:10.1124/dmd.112.048991 · Cited by 145 · see citing works

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

Krone, N., Dhir, V., Ivison, H. E., & Arlt, W. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02740.x · Cited by 131 · see citing works

Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis

Azoury, S. C., Reddy, S., Shukla, V., & Deng, C. (2017) · International Journal of Biological Sciences · doi:10.7150/ijbs.22373 · Cited by 129 · see citing works

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Lajeunie, E., Heuertz, S., Ghouzzi, V. E., Martinovic, J., Rénier, D., Merrer, M. F. L., & Bonaventure, J. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201558 · Cited by 125 · see citing works

Genetic and clinical features of P450 oxidoreductase deficiency

Scott, R. R., & Miller, W. L. (2008) · Hormone Research in Paediatrics · doi:10.1159/000114857 · Cited by 115 · see citing works

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene ( <i>POR</i> ) in two patients with Antley–Bixler syndrome

Adachi, M., Tachibana, K., Asakura, Y., Yamamoto, T., Hanaki, K., & Oka, A. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30169 · Cited by 110 · see citing works

Prenatal exposure to fluconazole: An identifiable dysmorphic phenotype

Lopez‐Rangel, E., & Allen, M. I. V. (2005) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20189 · Cited by 105 · see citing works

Malformation syndromes due to inborn errors of cholesterol synthesis

Porter, F. D. (2002) · Journal of Clinical Investigation · doi:10.1172/jci16386 · Cited by 105 · see citing works

Genetic polymorphisms in cytochrome P450 oxidoreductase influence microsomal P450-catalyzed drug metabolism

Hart, S. N., Wang, S., Nakamoto, K., Wesselman, C., Li, Y., & Zhong, X.-B. (2008) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e3282f2f121 · Cited by 99 · see citing works

Malformation syndromes due to inborn errors of cholesterol synthesis

Porter, F. D. (2002) · Journal of Clinical Investigation · doi:10.1172/jci0216386 · Cited by 96 · see citing works

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L. E., Glaser, R. L., Netzloff, M. L., Miller Wolf, L., & Jabs, E. W. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10510 · Cited by 95 · see citing works

3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

Correa-Cerro, L. S., & Porter, F. D. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.017 · Cited by 92 · see citing works

Sterol metabolism disorders and neurodevelopment—an update

Kanungo, S., Soares, N. S., He, M., & Steiner, R. D. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1114 · Cited by 86 · see citing works

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

Shackleton, C. H. L., Marcos, J., Małunowicz, E., Szarras‐Czapnik, M., Jira, P. E., Taylor, N., Murphy, N., Crushell, E., Gottschalk, M. E., Hauffa, B. P., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30104 · Cited by 86 · see citing works

Clinical, genetic and enzymatic characterization of P450 oxidoreductase deficiency in four patients

Sahakitrungruang, T., Huang, N., Tee, M. K., Agrawal, V., Russell, W. E., Crock, P., Murphy, N., Migeon, C. J., & Miller, W. L. (2009) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2009-1460 · Cited by 82 · see citing works

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms

Burkhard, F. Z., Parween, S., Udhane, S. S., Flück, C. E., & Pandey, A. V. (2017) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.003 · Cited by 79 · see citing works

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency

Scott, R. R., Gomes, L. G., Huang, N., Van Vliet, G., & Miller, W. L. (2007) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2006-2345 · Cited by 79 · see citing works

P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations

Miller, W. L. (2004) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2004.07.005 · Cited by 75 · see citing works

CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS

Opitz, J. M., Gilbert‐Barness, E., Ackerman, J., & Lowichik, A. (2002) · Fetal and Pediatric Pathology · doi:10.1080/15227950252852078 · Cited by 70 · see citing works

Human disorders in N-glycosylation and animal models

Freeze, H. H. (2002) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/s0304-4165(02)00408-7 · Cited by 65 · see citing works

P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity

Hart, S. N., & Zhong, X.-B. (2008) · Expert Opinion on Drug Metabolism & Toxicology · doi:10.1517/17425255.4.4.439 · Cited by 62 · see citing works

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia

Flück, C. E., & Miller, W. L. (2006) · Current Opinion in Pediatrics · doi:10.1097/01.mop.0000236395.71956.5c · Cited by 57 · see citing works

Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects

Fukami, M., & Ogata, T. (2014) · Pediatrics International · doi:10.1111/ped.12518 · Cited by 57 · see citing works

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase

Flück, C. E., Nicolo, C., & Pandey, A. V. (2007) · Fundamental and Clinical Pharmacology · doi:10.1111/j.1472-8206.2007.00520.x · Cited by 54 · see citing works

Genetic variation in human P450 oxidoreductase

Miller, W. L., Huang, N., Agrawal, V., & Giacomini, K. M. (2009) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2008.09.017 · Cited by 54 · see citing works

Disorders of Androgen Synthesis – from Cholesterol to Dehydroepiandrosterone

Miller, W. L. (2005) · Medical Principles and Practice · doi:10.1159/000086185 · Cited by 52 · see citing works

Molecular Basis of Adrenal Insufficiency

Fujieda, K., & Tajima, T. (2005) · Pediatric Research · doi:10.1203/01.pdr.0000159568.31749.4d · Cited by 49 · see citing works

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

Westphal, V. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.599 · Cited by 52 · see citing works

Clinical and Biochemical Consequences of P450 Oxidoreductase Deficiency

Flück, C. E., & Pandey, A. V. (2010) · Endocrine development · doi:10.1159/000321221 · Cited by 50 · see citing works

Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient.

Rieckmann, T., Zhuang, L., Flück, C., & Trueb, B. (2009) · Biochimica et Biophysica Acta · doi:10.1016/j.bbadis.2008.11.006 · Cited by 46 · see citing works

Spectrum of Antley-Bixler Syndrome

McGlaughlin, K., Witherow, H., Dunaway, D. J., David, D. J., & Anderson, P. J. (2010) · Journal of Craniofacial Surgery · doi:10.1097/scs.0b013e3181ec6afe · Cited by 41 · see citing works

Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit

Chevy, F., Humbert, L., & Wolf, C. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1254 · Cited by 41 · see citing works

Diagnosis and Treatment of Disorders of Sexual Development

Rey, R. A., & Josso, N. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00119-0 · Cited by 40 · see citing works

P450 Oxidoreductase Deficiency: A New Disorder of Steroidogenesis Affecting All Microsomal P450 Enzymes

Pandey, A. V., Flück, C. E., Huang, N., Tajima, T., Fujieda, K., & Miller, W. L. (2004) · Endocrine Research · doi:10.1081/erc-200044134 · Cited by 38 · see citing works

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley–Bixler syndrome

Cragun, D. L., Trumpy, S. K., Shackleton, C. H. L., Kelley, R. I., Leslie, N. D., Mulrooney, N. P., & Hopkin, R. J. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30170 · Cited by 37 · see citing works

Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea

Iezzi, M. L., Lasorella, S., Varriale, G., Zagaroli, L., Ambrosi, M., & Verrottı, A. (2018) · Sexual Development · doi:10.1159/000489385 · Cited by 36 · see citing works

Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report

Li, H., Zhao, A., Xie, M., Chen, L., Wu, H., Shen, Y., & Wang, H. (2021) · Translational Pediatrics · doi:10.21037/tp-21-499 · Cited by 34 · see citing works

Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families

Holberg, C. J., Erickson, R. P., Bernas, M. J., Witte, M. H., Fultz, K. E., Andrade, M., & Witte, C. L. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010201)98:4 · Cited by 34 · see citing works

Cytochromes P450—A Family of Proteins and Scientists–Understanding their Relationships

Masters, B. S. S., & Marohnic, C. C. (2006) · Drug Metabolism Reviews · doi:10.1080/03602530600570065 · Cited by 31 · see citing works

P450 oxidoreductase deficiency and Antley–Bixler syndrome

Arlt, W. (2007) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-007-9056-y · Cited by 31 · see citing works

Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome

Shackleton, C. H. L. (2003) · Steroids · doi:10.1016/s0039-128x(03)00115-6 · Cited by 31 · see citing works

Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action

Honour, J. W. (2009) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.v1i5.209 · Cited by 30 · see citing works

P450 Oxidoreductase Deficiency: A Disorder of Steroidogenesis with Multiple Clinical ManifestationsA Presentation from the European Society for Paediatric Endocrinology (ESPE) New Inroads to Child Health (NICHe) Conference on Stress Response and Child Health in Heraklion, Crete, Greece, 18 to 20 May 2012.

Miller, W. L. (2012) · Science Signaling · doi:10.1126/scisignal.2003318 · Cited by 30 · see citing works

P450 Oxidoreductase Deficiency

Miller, W. L., Huang, N., Pandey, A. V., Flück, C. E., & Agrawal, V. (2005) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1336.012 · Cited by 29 · see citing works

Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency

Williamson, L., Arlt, W., Shackleton, C. H. L., Kelley, R. I., & Braddock, S. R. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31385 · Cited by 30 · see citing works

History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology

Miller, W. L., & White, P. C. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac019 · Cited by 31 · see citing works

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene

Ko, J. M., Cheon, C. K., Kim, G.-H., & Yoo, H. (2008) · European Journal of Pediatrics · doi:10.1007/s00431-008-0849-0 · Cited by 28 · see citing works

Arthrogryposes (Multiple Congenital Contractures)

Hall, J. G. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00168-3 · Cited by 26 · see citing works

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley‐Bixler syndrome

Tsai, F., Wu, J., Yang, C., & Tsai, C. (2001) · Acta Paediatrica · doi:10.1111/j.1651-2227.2001.tb00811.x · Cited by 24 · see citing works

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

Oldani, E., Garel, C., Bucourt, M., & Carbillon, L. (2015) · American Journal of Case Reports · doi:10.12659/ajcr.895526 · Cited by 23 · see citing works

Structural Genome Variations Related to Craniosynostosis

Poot, M. (2018) · Molecular Syndromology · doi:10.1159/000490480 · Cited by 23 · see citing works

Allosteric modulation of cytochrome P450 enzymes by the NADPH cytochrome P450 reductase FMN-containing domain

Burris‐Hiday, S. D., & Scott, E. E. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.105112 · Cited by 22 · see citing works

P450 oxidoreductase expressed in rat chondrocytes modulates chondrogenesis via cholesterol- and Indian Hedgehog-dependent mechanisms

Aguilar, A., Wu, S., & De Luca, F. (2009) · Endocrinology · doi:10.1210/en.2009-0043 · Cited by 21 · see citing works

Antley-Bixler syndrome with radioulnar synostosis

Hurley, M. E., White, M., Green, A., & Kelleher, J. (2004) · Pediatric Radiology · doi:10.1007/s00247-003-1066-7 · Cited by 21 · see citing works

Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: Steroidogenic capacities

Iijima, S., Ohishi, A., & Ohzeki, T. (2009) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2009.22.5.469 · Cited by 16 · see citing works

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature

Gusmano, C., Cannarella, R., Crafa, A., Barbagallo, F., Vignera, S. L., Condorelli, R. A., & Calogero, A. E. (2022) · Journal of Endocrinological Investigation · doi:10.1007/s40618-022-01849-9 · Cited by 16 · see citing works

Arthrogryposes (Multiple Congenital Contractures)

Hall, J. G. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05632-4 · Cited by 16 · see citing works

Étiologie des craniosténoses

Rénier, D., Merrer, M. F. L., Arnaud, É., & Marchac, D. (2006) · Neurochirurgie · doi:10.1016/s0028-3770(06)71217-6 · Cited by 16 · see citing works

Pediatric Airway Disease

Friedman, E. R., Robson, C. D., & Hudgins, P. A. (2011) · Elsevier eBooks · doi:10.1016/b978-0-323-05355-6.00030-6 · Cited by 16 · see citing works

Pathogenic Cysteine Removal Mutations in FGFR Extracellular Domains Stabilize Receptor Dimers and Perturb the TM Dimer Structure

Sarabipour, S., & Hristova, K. A. (2016) · Journal of Molecular Biology · doi:10.1016/j.jmb.2016.08.026 · Cited by 16 · see citing works

Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α‐hydroxylase, 17,20‐lyase and 21‐hydroxylase

Adachi, M., Asakura, Y., Tachibana, K., & Shackleton, C. H. L. (2004) · Pediatrics International · doi:10.1111/j.1442-200x.2004.01960.x · Cited by 16 · see citing works

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

Capra, V., Marco, P. D., Merello, E., Baffico, A. M., Baldi, M., Divizia, M. T., Gimelli, S., Mallet, D., Raso, A., Mascelli, S., et al. (2008) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2008.10.005 · Cited by 15 · see citing works

Compound heterozygous variants in <i><scp>POR</scp></i> gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

Hao, C., Guo, J., Guo, R., Qi, Z., Li, W., & Ni, X. (2018) · Pediatric Investigation · doi:10.1002/ped4.12035 · Cited by 13 · see citing works

Developmental and transplacental genotoxicology: Fluconazole

Fučić, A., Markovic, D., Herceg, Z., Gamulin, M., Katić, J., Stojković, R., Ferenčić, Ž., Mildner, B., Jazbec, A., & Dobranić, T. (2008) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2008.08.008 · Cited by 13 · see citing works

A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.

Herkert, J. C., Blaauwwiekel, E. E., Hoek, A., Veenstra‐Knol, H. E., Kema, I. P., Arlt, W., & Kerstens, M. N. (2011) · PubMed · Cited by 12 · see citing works

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G&gt;C) in the <i>POR</i> Gene

Oh, J., Song, J.-S., Park, J. E., Jang, S. Y., Ki, C.-S., & Kim, D.-K. (2017) · Annals of Laboratory Medicine · doi:10.3343/alm.2017.37.6.559 · Cited by 11 · see citing works

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Wang, C., & Tian, Q. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1226387 · Cited by 11 · see citing works

Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Woo, H., Ko, J. M., Shin, C. H., & Yang, S. W. (2016) · Journal of genetic medicine · doi:10.5734/jgm.2016.13.1.31 · Cited by 10 · see citing works

Oligogenic Disease

Robinson, J. F., & Katsanis, N. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_8 · Cited by 10 · see citing works

Malformation syndromes due to inborn errors of cholesterol synthesis

Porter, F. D. (2002) · Journal of Clinical Investigation · doi:10.1172/jci200216386 · Cited by 10 · see citing works

P450 Oxidoreductase Deficiency (PORD)

Flück, C. E., & Pandey, A. V. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00010-7 · Cited by 7 · see citing works

Pfeiffer Syndrome, Type II

Herman, T. E., & Siegel, M. J. (2001) · Journal of Perinatology · doi:10.1038/sj.jp.7210568 · Cited by 8 · see citing works

Association of high‐dose bifonazole administration during early pregnancy and severe limb reduction defects in the newborn

Linder, N., Mandola, A. B., Hernandez, A., Tamiri, T., Sirota, L., Klinger, G., Levy, I., & Merlob, P. (2009) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20644 · Cited by 8 · see citing works

Antley‐Bixler syndrome: report of a case.

Machado, L. E., Osborne, N. G., & Bonilla-Musoles, F. M. (2001) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2001.20.1.73 · Cited by 8 · see citing works

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

Hiraoka, M., Rossi, F., Trese, M. T., & Shastry, B. S. (2001) · Journal of Human Genetics · doi:10.1007/s100380170108 · Cited by 8 · see citing works

Antley–Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity

Yamamoto, T., Pipo, J., Ninomiya, H., Ieshima, A., & Koeda, T. (2001) · Clinical Genetics · doi:10.1034/j.1399-0004.2001.590611.x · Cited by 8 · see citing works

Use of the Term “Antley-Bixler Syndrome”: Minimizing Confusion

Cragun, D. L., & Hopkin, R. J. (2005) · The American Journal of Human Genetics · doi:10.1086/432164 · Cited by 8 · see citing works

Human P450 Oxidoreductase Deficiency

Flück, C. E., & Pandey, A. V. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64966-8 · Cited by 7 · see citing works

Congenital Adrenal Hyperplasia

Trapp, C. M., Levine, L. S., & Oberfield, S. E. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_14 · Cited by 7 · see citing works

Advances in the molecular pathogenesis of craniofacial conditions

Britto, J. A. (2004) · Oral and Maxillofacial Surgery Clinics of North America · doi:10.1016/j.coms.2004.07.003 · Cited by 7 · see citing works

Diagnosis and Treatment of Disorders of Sexual Development

Rey, R. A., Josso, N., & Forest, M. G. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00119-2 · Cited by 6 · see citing works

Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen

Rachwalski, M., Wollnik, B., & Kress, W. (2013) · Medizinische Genetik · doi:10.1007/s11825-013-0412-x · Cited by 6 · see citing works

Craniosynostosis

Jabs, E. W., & Lewanda, A. F. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00153-1 · Cited by 6 · see citing works

Congenital Adrenal Hyperplasia Owing to 17α-Hydroxylase/17,20 Lyase and P450 Oxidoreductase Deficiencies

Flück, C. E. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-8002-1_1 · Cited by 5 · see citing works

[Antley-Bixler syndrome or POR deficiency?].

Tomková, M., Marohnic, C. C., Baxová, A., & Pavel Martasek, E. (2008) · PubMed · Cited by 5 · see citing works

Three craniosynostotic patients with tracheal sleeve

Okajima, K., Aoki, I., Sagehashi, N., Malcolm, S., & Winter, R. M. (2003) · Clinical Dysmorphology · doi:10.1097/00019605-200301000-00015 · Cited by 5 · see citing works

The Principles, Enzymes, and Pathways of Human Steroidogenesis

Auchus, R. J., & Miller, W. L. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00096-4 · Cited by 5 · see citing works

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia

Chen, C., Lin, S.-P., Liu, Y.-P., Chern, S., Chen, S.-W., Lai, S.-T., & Wang, W. (2017) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2017.04.030 · Cited by 4 · see citing works

P450 oxidoreductase deficiency

Flück, C. E., Velazquez, M. N. R., & Pandey, A. V. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00012-5 · Cited by 3 · see citing works

Bipolar affective disorder associated with 11q24.2 disruption—A second report

Reardon, W., Dunlop, A., Holden, S. T., & Blennerhassett, R. C. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31749 · Cited by 3 · see citing works

Digenic Inheritance

Vockley, J. E. (2011) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0005560.pub2 · Cited by 3 · see citing works

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels: Table 1

Whittall, R., Matheus, S., Cranston, T., Miller, G. J., & Humphries, S. E. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.9.e57 · Cited by 11 · see citing works

Abnormal steroid biogenesis in 7 cases of Antley-Bixler syndrome suggests the possibility of digenic inheritance in some patients with this phenotype

Reardon, W., Winter, R. M., & Malcolm, S. (1999) · UCL Discovery (University College London)

Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families.

Iughetti, P., Otto, P., Zatz, M., Bueno, M. R., & Marie, S. (1998) · American journal of medical genetics · doi:10.1002/(sici)1096-8628(19980518)77:3 · Cited by 19 · see citing works

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L. E., Glaser, R. L., Netzloff, M. L., Miller Wolf, L., & Jabs, E. W. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10510 · Cited by 95 · see citing works

Spectrum of Antley-Bixler Syndrome

McGlaughlin, K., Witherow, H., Dunaway, D. J., David, D. J., & Anderson, P. J. (2010) · Journal of Craniofacial Surgery · doi:10.1097/scs.0b013e3181ec6afe · Cited by 41 · see citing works