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16 in total

1. Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated.

Authors: J W Funder; P T Pearce; R Smith; A I Smith
Journal: Science Date: 1988-10-28 Impact factor: 47.728

2. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

Authors: R C Wilson; Z S Krozowski; K Li; V R Obeyesekere; M Razzaghy-Azar; M D Harbison; J Q Wei; C H Shackleton; J W Funder; M I New
Journal: J Clin Endocrinol Metab Date: 1995-07 Impact factor: 5.958

3. Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Authors: Mabel Yau; Shozeb Haider; Ahmed Khattab; Chen Ling; Mehr Mathew; Samir Zaidi; Madison Bloch; Monica Patel; Sinead Ewert; Wafa Abdullah; Aysenur Toygar; Vitalii Mudryi; Maryam Al Badi; Mouch Alzubdi; Robert C Wilson; Hanan Said Al Azkawi; Hatice Nur Ozdemir; Wahid Abu-Amer; Jozef Hertecant; Maryam Razzaghy-Azar; John W Funder; Aisha Al Senani; Li Sun; Se-Min Kim; Tony Yuen; Mone Zaidi; Maria I New
Journal: Proc Natl Acad Sci U S A Date: 2017-12-11 Impact factor: 11.205

4. Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis.

Authors: Tilman Breiderhoff; Nina Himmerkus; Marchel Stuiver; Kerim Mutig; Constanze Will; Iwan C Meij; Sebastian Bachmann; Markus Bleich; Thomas E Willnow; Dominik Müller
Journal: Proc Natl Acad Sci U S A Date: 2012-08-13 Impact factor: 11.205

5. Apparent mineralocorticoid excess and the long term treatment of genetic hypertension.

Authors: Maryam Razzaghy-Azar; Mabel Yau; Ahmed Khattab; Maria I New
Journal: J Steroid Biochem Mol Biol Date: 2016-02-15 Impact factor: 4.292

Review 6. Diagnostic approach to low-renin hypertension.

Authors: Silvia Monticone; Isabel Losano; Martina Tetti; Fabrizio Buffolo; Franco Veglio; Paolo Mulatero
Journal: Clin Endocrinol (Oxf) Date: 2018-06-06 Impact factor: 3.478

7. Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Authors: Nicole Meyers; Carol Nelson-Williams; Laura Malaga-Dieguez; Horacio Kaufmann; Erin Loring; James Knight; Richard P Lifton; Howard Trachtman
Journal: Am J Kidney Dis Date: 2018-10-25 Impact factor: 8.860

8. Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene.

Authors: P M Stewart; Z S Krozowski; A Gupta; D V Milford; A J Howie; M C Sheppard; C B Whorwood
Journal: Lancet Date: 1996-01-13 Impact factor: 79.321

9. An abnormality in steroid reductive metabolism in a hypertensive syndrome.

Authors: S Ulick; L C Ramirez; M I New
Journal: J Clin Endocrinol Metab Date: 1977-04 Impact factor: 5.958

Review 10. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Authors: Peter D Stenson; Matthew Mort; Edward V Ball; Katy Evans; Matthew Hayden; Sally Heywood; Michelle Hussain; Andrew D Phillips; David N Cooper
Journal: Hum Genet Date: 2017-03-27 Impact factor: 4.132

1 in total

1. A clinical approach to tubulopathies in children and young adults.

Authors: Andrew Mallett; Hugh McCarthy; Rachael Kermond
Journal: Pediatr Nephrol Date: 2022-05-18 Impact factor: 3.714

1 in total