Results
author = "Miller, Walter L"
Naturally-Occurring Mutation in the Calcium-Sensing Receptor Reveals the Significance of Extracellular Domain Loop III Region for Class C G-Protein-Coupled Receptor Function
Author(s) :
Dong, Qing
,
Cheng, Zhiqiang
,
Chang, Wenhan
,
Blackman, Brigitte E.
,
Conte, Felix A.
,
Hu, Jianxin
,
Shoback, Dolores
Description :
Context: Inactivating mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Most mutations are clustered in the N-terminal and Cys-rich regions of the extracellular domain (ECD) and seven-transmembrane domain. Disease-cau...
Repository :
Europe PubMed Central
Language(s) :
English
Clinical, Biochemical, and Molecular Characterization of Macronodular Adrenocortical Hyperplasia of the Zona Reticularis: A New Syndrome
Author(s) :
Ghayee, Hans K.
,
Rege, Juilee
,
Watumull, Lori M.
,
Nwariaku, Fiemu E.
,
Carrick, Kelley S.
,
Rainey, William E.
,
Miller, Walter L.
Description :
The clinical, biochemical, and molecular features of macronodular adrenocortical hyperplasia of the zona reticularis in a man are described and characterized.
Repository :
Europe PubMed Central
Language(s) :
English
Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation
Author(s) :
Flück, Christa E.
,
Meyer-Böni, Monika
,
Pandey, Amit V.
,
Kempná, Petra
,
Miller, Walter L.
,
Schoenle, Eugen J.
,
Biason-Lauber, Anna
Description :
Repository :
Europe PubMed Central
Language(s) :
English
Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation
Author(s) :
Flück, Christa E.
,
Meyer-Böni, Monika
,
Pandey, Amit V.
,
Kempná, Petra
,
Miller, Walter L.
,
Schoenle, Eugen J.
,
Biason-Lauber, Anna
Description :
Human sexual determination is initiated by a cascade of genes that lead to the development of the fetal gonad. Whereas development of the female external genitalia does not require fetal ovarian hormones, male genital development requires the action of testicular testosterone and its more potent der...
Repository :
Europe PubMed Central
Language(s) :
English
A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency
Author(s) :
Speiser, Phyllis W.
,
Azziz, Ricardo
,
Baskin, Laurence S.
,
Ghizzoni, Lucia
,
Hensle, Terry W.
,
Merke, Deborah P.
Description :
Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). Newborns are currently being screened for the classical forms of this disease throughout the United States and in 12 other countries. As such, it seems important to develop the best practice gu...
Repository :
Europe PubMed Central
Language(s) :
English
Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis
Author(s) :
Huang, Ningwu
,
Pandey, Amit V.
,
Agrawal, Vishal
,
Reardon, William
,
Lapunzina, Pablo D.
,
Mowat, David
,
Jabs, Ethylin Wang
Description :
P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 enzymes. Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disorde...
Repository :
Europe PubMed Central
Language(s) :
English
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Author(s) :
Speiser, Phyllis W.
,
Azziz, Ricardo
,
Baskin, Laurence S.
,
Ghizzoni, Lucia
,
Hensle, Terry W.
,
Merke, Deborah P.
Description :
Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH).
Repository :
Europe PubMed Central
Language(s) :
English
A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency
Author(s) :
Speiser PhyllisW
,
Azziz Ricardo
,
Baskin LaurenceS
,
Ghizzoni Lucia
,
Hensle TerryW
,
Merke DeborahP
,
Meyer-Bahlburg HeinoFL
Description :
Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). Newborns are currently being screened for the classical forms of this disease throughout the United States and in 12 other countries. As such, it seems important to develop the best pra...
Repository :
DOAJ-Articles
Language(s) :
English
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative
Author(s) :
Auchus, Richard J.
,
Witchel, Selma Feldman
,
Leight, Kelly R.
,
Aisenberg, Javier
,
Azziz, Ricardo
,
Bachega, Tânia A.
Description :
Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits f...
Repository :
Europe PubMed Central
Language(s) :
English
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative
Author(s) :
Auchus RichardJ
,
Witchel SelmaFeldman
,
Leight KellyR
,
Aisenberg Javier
,
Azziz Ricardo
,
Bachega TâniaA
,
Baker LindaA
Description :
Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many be...
Repository :
DOAJ-Articles
Language(s) :
English