17-Hydroxylation deficiency in man

Biglieri, E G, Herron, M A, Brust, N·1966·Journal of Clinical Investigation

Cited by (566)

Items 101–200 of 566

  1. Non-neoplastic diseases of the testis
    Manuel Nistal, Ricardo Paniagua · 2008 · Elsevier eBooks
  2. A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency
    Antonia M. Brooke, Norman Taylor, J. H. Shepherd, Martin Eric Gore, Tanya Ahmad, Liang‐In Lin, Gill Rumsby, Mahboubeh Papari-Zareei, Richard Joseph Auchus, John C. Achermann et al. · 2006 · The Journal of Clinical Endocrinology & Metabolism
  3. Treatment of low-renin essential hypertension. Comparison of spironolactone and a hydrochlorothiazide-triamterene combination
    J. G. Douglas · 1974 · JAMA
  4. Concurrent hypercortisolism and hypermineralocorticoidism
    Michael J. Hogan, Morris Schambelan, Edward G. Biglieri · 1977 · The American Journal of Medicine
  5. Urinary steroid excretion in 17α-hydroxylase deficiency
    John William Honour, JACQUES TOURNIAIRE, Edward G. Biglieri, C.H.L. Shackleton · 1978 · Journal of Steroid Biochemistry
  6. The Unique Patterns of Plasma Aldosterone and 18-Hydroxycorticosterone Concentrations in the 17α-Hydroxylase Deficiency Syndrome*
    Claudio Elias Kater, Edward G. Biglieri, N. Brust, BARBARA C. F. CHANG, JOY HIRAI · 1982 · The Journal of Clinical Endocrinology & Metabolism
  7. Genotyping of Five Chinese Patients with 17α-Hydroxylase Deficiency Diagnosed through High-Performance Liquid Chromatography Serum Adrenal Profile: Identification of Two Novel CYP17 Mutations
    Ji‐Qing Wei, Ji‐Lu Wei, Weichun Li, BI Yun-sheng, Fengcai Wei · 2006 · The Journal of Clinical Endocrinology & Metabolism
  8. Levels of Mineralocorticoids in Whites and Blacks
    John Howard Pratt, John F. Rebhun, Lifen Zhou, Walter T. Ambrosius, Shirley A. Newman, Celso E. Gómez-Sánchez, Darrel F. Mayes · 1999 · Hypertension
  9. A brief history of adrenal research
    Miller, Walter L. · 2013 · Molecular and Cellular Endocrinology
  10. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency
    Erdal Kurnaz, Emine Kartal Baykan, Ayberk Türkyılmaz, Oğuzhan Yaralı, Zehra Yavaş Abalı, Serap Turan, Abdullah Bereket, Atilla Çayır, Tülay Güran · 2020 · Hormone Research in Paediatrics
  11. A single amino acid residue, Ala 105, confers 16α-hydroxylase activity to human cytochrome P450 17α-hydroxylase/17,20 lyase
    Amanda Cecilia Swart, Karl‐Heinz Storbeck, Pieter Swart · 2010 · The Journal of Steroid Biochemistry and Molecular Biology
  12. Hypergonadotropic Forms of Amenorrhea in Young Women
    Robert W. Rebar, Marcelle Ivonne Cedars · 1992 · Endocrinology and Metabolism Clinics of North America
  13. Congenital adrenal hyperplasia causing hypertension: an illustrative review
    Laura Hinz, Danièle Pacaud, Gregory A. Kline · 2017 · Journal of Human Hypertension
  14. The development and application of a radioimmunoassay for 18-hydroxy-corticosterone
    VICTOR I. MARTIN, Christopher R.W. Edwards, Edward G. Biglieri, Gavin P. Vinson, F. C. Bartter · 1975 · Steroids
  15. Overproduction of Sodium-Retaining Steroids by the Zona Glomerulosa Is Adrenocorticotropin-Dependent and Mediates Hypertension in Dexamethasone-Suppressible Aldosteronism
    John R. Gill, Frederic C. Bartter · 1981 · The Journal of Clinical Endocrinology & Metabolism
  16. Genetic and Pathophysiologic Studies of a New Kindred with Glucocorticoid-Suppressible Hyperaldosteronism Manifest in Three Generations*
    Arunabha Ganguly, Clarence E. Grim, Jerry M. Bergstein, Ronald D. Brown, Myron H. Weinberger · 1981 · The Journal of Clinical Endocrinology & Metabolism
  17. Combined 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Phe93Cys Mutation in the CYP17 Gene
    Alfredo Di Cerbo, Anna Biason‐Lauber, Maria Savino, Maria Rosaria Piemontese, Anna Di Giorgio, Marco Perona, Anna Savoia · 2002 · The Journal of Clinical Endocrinology & Metabolism
  18. Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism).
    Ibrahim S. Salti, MAGDALENA STIEFEL, J. L. Ruse, J C Laidlaw · 1969 · PubMed Central
  19. Steroid 17α-Hydroxylase Deficiency—Not Rare Everywhere
    Walter L. Miller · 2004 · The Journal of Clinical Endocrinology & Metabolism
  20. Deletion within theCYP17 Gene Together with Insertion of Foreign DNA Is the Cause of Combined Complete 17α-Hydroxylase/17,20-Lyase Deficiency in an Italian Patient
    A. Biason, Franco Mantero, Carla Maria Scaroni, Evan R. Simpson, Michael R. Waterman · 1991 · Molecular Endocrinology
  21. Immunologic aspects of adrenocortical insufficiency
    Kirk D. Wuepper, Laurence C. Wegienka, H. Hugh Fudenberg · 1969 · The American Journal of Medicine
  22. Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling
    Attila Patócs, István Likó, Ibolya Varga, Péter Gergics, András Mihály Boros, László Fütő, Imre Zoltán Kun, Rita Ágnes Bertalan, Szilvia Tóth, Tamás Pázmány et al. · 2005 · The Journal of Steroid Biochemistry and Molecular Biology
  23. A complex heterozygous mutation of His373Leu and Asp487–Ser488–Phe489 deletion in human cytochrome P450c17 causes 17α-hydroxylase/17,20-lyase deficiency in three Chinese sisters
    Jie Qiao · 2003 · Molecular and Cellular Endocrinology
  24. MALE PSEUDOHERMAPHRODITISM WITH HYPERTENSION DUE TO A 17α-HYDROXYLATION DEFICIENCY
    JACQUES TOURNIAIRE, Laura Audı́, BERNADETTE LORAS, JACQUES BLUM, PAUL CASTELNOVO, Maguelone G. Forest · 1976 · Clinical Endocrinology
  25. Adrenocorticotropic hormone unresponsiveness: Report of a girl with excessive growth and review of 16 reported cases
    Ann K. Kershnar, Thomas F. Roe, Maurice D. Kogut · 1972 · The Journal of Pediatrics
  26. Low-renin (“primary”) hyperaldosteronism
    J. B. Ferriss, D. Gareth Beevers, Jehoiada J. Brown, R. Fräser, A.F. Lever, Paul L. Padfield, J. I. S. Robertson · 1978 · American Heart Journal
  27. ENDOCRINE STUDIES IN MALE PSEUDOHERMAPHRODITISM IN CHILDHOOD AND ADOLESCENCE
    Martin Oswald Savage, Jean‐Louis Chaussain, Danièle Evain‐Brion, M Roger, Pierre Canlorbe, J C Job · 1978 · Clinical Endocrinology
  28. Combined 17a- and 18-Hydroxylase Deficiency Associated with Complete Male Pseudohermaphroditism and Hypoaldosteronism*
    Werner K Waldhäusl, Kurt R Herkner, P. Nowotny, Paul R Bratusch-Marrain · 1978 · The Journal of Clinical Endocrinology & Metabolism
  29. Historical perspective: gut dysbiosis and hypertension
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  31. Pseudohyperaldosteronism: Pathogenetic Mechanisms
    Decio Armanini, Lorenzo Arcangelo Calò, Andrea Semplicini · 2003 · Critical Reviews in Clinical Laboratory Sciences
  32. Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: Case report
    Marianne J. ten Kate‐Booij · 2004 · Human Reproduction
  33. Mineralocorticoid hypertension due to a nasal spray containing 9α-fluoroprednisolone
    Franco Mantero, Decio Armanini, Giuseppe Opocher, Francesco Fallo, Lorena Sampieri, Bruno Cuspidi, Cesare Ambrosi, Giovanni Faglia · 1981 · The American Journal of Medicine
  34. The Prevalence of Adrenal Cortical Hyperplasia at Autopsy and Its Association with Hypertension
    R. Patterson Russell, Alfonse T. Masi · 1970 · Annals of Internal Medicine
  35. SPONTANEOUS PREGNANCY IN A PATIENT WITH. HYPERGONADOTROPHIC OVARIAN FAILURE.
    Catherine Wright, Howard S. Jacobs · 1979 · BJOG An International Journal of Obstetrics & Gynaecology
  36. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects
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  37. Plasma and Urinary 19-Nor-Deoxycorticosterone in 17α-Hydroxylase Deficiency Syndrome*
    George T. Griffing, THOMAS E. WILSON, MONIKA M. HOLBROOK, Sidney L. Dale, Timothy K Jackson, I H Ullrich, James C. Melby · 1984 · The Journal of Clinical Endocrinology & Metabolism
  38. Development of Endocrine Function in the Human Placenta and Fetus
    Dorothy B. Villee · 1969 · New England Journal of Medicine
  39. 17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
    Simiao Xu, Shuhong Hu, Xuefeng Yu, Muxun Zhang, Yan Yang · 2016 · Molecular Medicine Reports
  40. Menopause and Aging
    Rogerio A. Løbo · 2019 · Elsevier eBooks
  41. Diagnosis and treatment of 17-hydroxylase deficiency
    Michael Peter, Wolfgang G. Sippell, Heinrich Wernze · 1993 · The Journal of Steroid Biochemistry and Molecular Biology
  42. Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.
    G. Heremans, Abraham J. Moolenaar, H. H. van Gelderen · 1976 · Archives of Disease in Childhood
  43. Genetic analysis of the cytochrome P‐450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α‐hydroxylase deficiency
    Yoshiyu Takeda, Takashi Yoneda, Masashi Demura, Kenji Furukawa, Hideo KOSHIDA, Isamu Miyamori, Hiroshi Mabuchi · 2001 · Clinical Endocrinology
  44. Human Cytochrome P450c17: Single Step Purification and Phosphorylation of Serine 258 by Protein Kinase A
    Yuehao Wang, Meng Kian Tee, Walter L. Miller · 2010 · Endocrinology
  45. Aldosterone: Review of its physiology and diagnostic aspects of primary aldosteronism
    R Horton · 1973 · Metabolism
  46. Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene
    C Oshiro, Nobuyuki Takasu, Tamio Wakugami, Ichiro Komiya, Takanori Yamada, Yukinori Eguchi, Hiroshi Takei · 1995 · The Journal of Clinical Endocrinology & Metabolism
  47. Low Renin Hypertension and the Adrenal Cortex
    Daniel Deykin, Christine Balko, Richard F. Spark · 1972 · New England Journal of Medicine
  48. Response of Several Adrenal Steroids to ACTH Stimulation in Essential Hypertension
    Masashi Honda, Wojciech J. Nowaczynski, Gordon P. Guthrie, Franz H. Messerli, G. NOWAC, Otto Kuchel, Jacques Genest · 1977 · The Journal of Clinical Endocrinology & Metabolism
  49. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency
    Qiao, Jie, Chen, Xia, Zuo, Chun‐Lin, Gu, Yan‐Yun, Liu, Bing‐Li, Liang, Jun, Lu, Ying‐Li, Tang, Jin‐Feng, Wu, Yi‐Xin, Chen, Ming‐Dao et al. · 2010 · Clinical Endocrinology
  50. 17α-Hydroxylase/17,20-Lyase Deficiency Caused by a Novel Homozygous Mutation (Y27Stop) in the Cytochrome CYP17 Gene
    Karsten Müssig, Simone Kaltenbach, Fausto E Machicao, Christiane Maser‐Gluth, Michaela F. Hartmann, Stefan Alexander Wudy, Günter Schnauder, Hans‐Ulrich Häring, Fritz J. Seif, Baptist Gallwitz · 2005 · The Journal of Clinical Endocrinology & Metabolism
  51. Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency
    Hideki Yamaguchi, Masamitsu Nakazato, Mikiya Miyazato, Hirotaka Toshimori, Syougo Oki, Kenichi Shimizu, Masahito Suiko, Kenji Kangawa, Shigeru Matsukura · 1998 · Human Genetics
  52. SYNDROME OF IDIOPATHIC HYPERKALÆMIA AND HYPERTENSION WITH DECREASED PLASMA RENIN ACTIVITY: EFFECTS ON PLASMA RENIN AND ALDOSTERONE OF REDUCING THE SERUM POTASSIUM LEVEL
    Gordon S. Stokes, Janice L. Gentle, K. D. G. Edwards, John H. Stewart, B. A. Scoggins, John P. Coghlan · 1968 · The Medical Journal of Australia
  53. The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series
    Min Sun, Jonathan Wolf Mueller, Lorna C Gilligan, ANGELA E. R. TAYLOR, Fozia Shaheen, Anna Noczyńska, Guy G. T'Sjoen, Louise Denvir, Savitha Shenoy, Piers Fulton et al. · 2021 · European Journal of Endocrinology
  54. History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology
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  55. Mineralocorticoids in congenital adrenal hyperplasia
    Edward G. Biglieri, Claudio Elias Kater · 1991 · The Journal of Steroid Biochemistry and Molecular Biology
  56. Male pseudohermaphroditism: Genetics and Clinical delineation
    Joe Leigh Simpson · 1978 · Human Genetics
  57. 17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients
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  58. 17α-Hydroxylation Deficiency
    Edward G. Biglieri, Claudio Elias Kater · 1991 · Endocrinology and Metabolism Clinics of North America
  59. Genetic disorders of steroid hormone synthesis and metabolism
    Maria I. New, Perrin C. White · 1995 · Baillière s Clinical Endocrinology and Metabolism
  60. Hereditary Male Pseudohermaphroditism
    James E. Griffin, Jean D. Wilson · 1978 · Clinics in Obstetrics and Gynaecology
  61. Blood Pressure and Hypertension in Childhood and Adolescence
    Ernst Leumann · 1979 · Springer eBooks
  62. Two Novel Mutations Found in a Patient with 17α-Hydroxylase Enzyme Deficiency
    Berrin Ergun-Longmire, Richard Joseph Auchus, Mahboubeh Papari-Zareei, Susan Tansil, Robert C. Wilson, Maria I. New · 2006 · The Journal of Clinical Endocrinology & Metabolism
  63. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect
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  64. Characterization of Adrenocorticotropin Secretion in a Patient with 17α-Hydroxylase Deficiency*
    Ayrton Custódio Moreira, Angela M. O. Leal, Margaret de Castro · 1990 · The Journal of Clinical Endocrinology & Metabolism
  65. Regulation of steroidogenesis and steroid action in Leydig cells
    Kenneth Purvis, Lionel Cusan, V. Hansson · 1981 · Journal of Steroid Biochemistry
  66. Hypertension with aldosterone excess.
    Justin J. Brown, R. Fräser, A. F. Lever, J. I. S. Robertson · 1972 · BMJ
  67. TESTICULAR FUNCTION IN POST PUBERTAL MALE PSEUDOHERMAPHRODITISM
    S Campo, Mirta Stivel, G. NICOLAU, Carlos Couceiro Monteagudo, Marco Rivarola · 1979 · Clinical Endocrinology
  68. Expression of P450c17 in the Human Fetal Nervous System
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  69. 17 -Hydroxylase Deficiency: 1963-1966
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  70. Acid-Base Disorders and the Kidney
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  71. The diagnosis and management of intersex
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    Michael Gary Nicholls, Lawrence E. Ramsay, K. Boddy, R. Fräser, J. J. Morton, J. I. S. Robertson · 1979 · Metabolism
  73. Endocrinology of puberty
    Allen W. Root · 1973 · The Journal of Pediatrics
  74. Subtle 17α-Hydroxylase/17,20-Lyase Deficiency with Homozygous Y201N Mutation in an Infertile Woman
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  75. Hypertension of Childhood with Suppressed Renin*
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  77. A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency
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  78. Potassium Homeostasis and Hypokalemia
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  79. Studies in a phenotypic female with 17-α-hydroxylase deficiency
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  80. Incidence of Suppressed Renin Activity and of Normokalemic Primary Aldosteronism in Hypertensive Negro Patients
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  81. Sexual Precocity Due to a Testosterone-Producing Adrenal Tumor
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  82. ABNORMALITIES OF GONADAL FUNCTION IN MEN
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  84. Hormonal correlates of normal and abnormal follicle growth after puberty in humans and other primates
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  88. Congenital 17α-hydroxylase deficiency: A clinicopathologic study
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  90. Mechanisms establishing the mineralocorticoid hormone patterns in the 17α-hydroxylase deficiency syndrome
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