Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 2, 2012, Pages

  Krone, Nils ^a   Reisch, Nicole ^a   Idkowiak, Jan ^a   Dhir, Vivek ^a   Ivison, Hannah E ^a   Hughes, Beverly A ^a   Rose, Ian T ^a   O'Neil, Donna M ^a   Vijzelaar, Raymon ^b   Smith, Matthew J ^c   MacDonald, Fiona ^c   Cole, Trevor R ^c   Adolphs, Nicolai ^d   Barton, John S ^e   Blair, Edward M ^f   Braddock, Stephen R ^g   Collins, Felicity ^h   Cragun, Deborah L ⁱ   Dattani, Mehul T ^j   Day, Ruth ^k   Dougan, Shelley ^l   Feist, Miriam ^m   Gottschalk, Michael E ⁿ   Gregory, John W ^o   Haim, Michaela ^p   Harrison, Rachel ^q   Olney, Ann Haskins ^r   Hauffa, Berthold P ^s   Hindmarsh, Peter C ^j   Hopkin, Robert J ⁱ   Jira, Petr E ^t   Kempers, Marlies ^u   Kerstens, Michiel N ^v   Khalifa, Mohamed M ^w   Köhler, Birgit ^d   Maiter, Dominique ^x   Nielsen, Shelly ^r   O'Riordan, Stephen M ^j   Roth, Christian L ^y   Shane, Kate P ^z   Silink, Martin ^h   Stikkelbroeck, Nike M M L ^u   Sweeney, Elizabeth ^k   Szarras Czapnik, Maria ^aa   Waterson, John R ^ab   Williamson, Lori ^ac   Hartmann, Michaela F ^ad   Taylor, Norman F ^ae   Wudy, Stefan A ^ad   Malunowicz, Ewa M ^aa   Shackleton, Cedric H L ^a   Arlt, Wiebke ^a   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b MRC HOLLAND   (Netherlands)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e ROYAL GWENT HOSPITAL   (United Kingdom)

^f OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

ⁱ CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^l KINGSTON GENERAL HOSPITAL   (Canada)

^m Altonaer Kinderkrankenhaus   (Germany)

ⁿ UNIVERSITY OF CALIFORNIA   (United States)

^o CARDIFF UNIVERSITY   (United Kingdom)

^p ST ANNA CHILDREN S HOSPITAL   (Austria)

^q NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^r UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^s UNIVERSITY HOSPITAL ESSEN   (Germany)

^t JEROEN BOSCH HOSPITAL   (Netherlands)

^u RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^v UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^w AKRON CHILDREN'S HOSPITAL   (United States)

^x CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^y UNIVERSITY OF WASHINGTON   (United States)

^z OHIO STATE UNIVERSITY   (United States)

^aa CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^ab CHILDREN S HOSPITAL OAKLAND   (United States)

^ac University of Oklahoma Medical Center   (United States)

^ad JUSTUS LIEBIG UNIVERSITY   (Germany)

^ae KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HYDROCORTISONE; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE; TETRACOSACTIDE;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DISEASE SEVERITY; ENDOCRINE FUNCTION TEST; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; METABOLOME; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; P450 OXIDOREDUCTASE DEFICIENCY; P450 OXIDOREDUCTASE GENE; PRIORITY JOURNAL; SCORING SYSTEM; SEX DIFFERENTIATION DISORDER; SKELETON MALFORMATION;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL INSUFFICIENCY; ADULT; CHILD; COHORT STUDIES; DISORDERS OF SEX DEVELOPMENT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENITALIA; GONADAL STEROID HORMONES; HUMANS; MALE; METABOLOME; MODELS, BIOLOGICAL; MODELS, MOLECULAR; MULTIPLEX POLYMERASE CHAIN REACTION; NADPH-FERRIHEMOPROTEIN REDUCTASE; YOUNG ADULT;

EID: 84863045235     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-0640     Document Type: Article

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