P
Perrin C. White
Researcher at University of Texas Southwestern Medical Center
Publications - 281
Citations - 25802
Perrin C. White is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Congenital adrenal hyperplasia & Gene. The author has an hindex of 85, co-authored 272 publications receiving 24605 citations. Previous affiliations of Perrin C. White include Children's Medical Center of Dallas & NewYork–Presbyterian Hospital.
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Journal ArticleDOI
Congenital adrenal hyperplasia
TL;DR: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex as mentioned in this paper.
Journal ArticleDOI
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
TL;DR: Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females with severe, classic 21-hydroxylase deficiency to minimize genital virilization, reducing mortality from this condition.
Journal ArticleDOI
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W. Speiser,Ricardo Azziz,Laurence S. Baskin,Lucia Ghizzoni,Terry W. Hensle,Deborah P. Merke,Heino F. L. Meyer-Bahlburg,Walter L. Miller,Victor M. Montori,Sharon E. Oberfield,Martin Ritzén,Perrin C. White +11 more
TL;DR: Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
Journal ArticleDOI
Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase
TL;DR: The gene encoding the kidney isozyme of 11βHSD is analysed and mutations on both alleles in nine of 11 AME patients (eight of nine kindreds) markedly affect enzymatic activity and permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension.
Journal ArticleDOI
A Modular Analysis Framework for Blood Genomics Studies: Application to Systemic Lupus Erythematosus
Damien Chaussabel,Charles T. Quinn,Jing Shen,Pinakeen Patel,Casey Glaser,Nicole Baldwin,Dorothee Stichweh,Derek Blankenship,Lei Li,Indira Munagala,Lynda Bennett,Florence Allantaz,Asuncion Mejias,Monica I. Ardura,Ellen Kaizer,Laurence Monnet,Windy Allman,Henry B. Randall,Diane Johnson,Aimee Lanier,Marilynn Punaro,Knut M. Wittkowski,Perrin C. White,Joseph W. Fay,Goran B. Klintmalm,Octavio Ramilo,A. Karolina Palucka,Jacques Banchereau,Virginia Pascual +28 more
TL;DR: This work designed a strategy for microarray analysis that is based on the identification of transcriptional modules formed by genes coordinately expressed in multiple disease data sets that provide a stable framework for the visualization and functional interpretation of microarray data.