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Primus E Mullis

Explore the profile of Primus E Mullis including associated specialties, affiliations and a list of published articles. Areas
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Articles 80
Citations 1129
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Recent Articles
1.
Saner C, Simonetti G, Wuhl E, Mullis P, Janner M
Eur J Pediatr . 2016 Jun; 175(8):1031-8. PMID: 27240757
Unlabelled: Altered circadian and ultradian blood pressure (BP) and heart rate (HR) rhythmicity have been described in diseases with increased cardiovascular risk. We analyzed cardiovascular rhythmicity in obese children. BP...
2.
Camats N, Fernandez-Cancio M, Audi L, Mullis P, Moreno F, Gonzalez Casado I, et al.
PLoS One . 2015 Nov; 10(11):e0142831. PMID: 26580071
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have...
3.
Burckhardt M, Udhane S, Marti N, Schnyder I, Tapia C, Nielsen J, et al.
Eur J Endocrinol . 2015 Aug; 173(5):K1-K12. PMID: 26290012
Context: 3β-hydroxysteroid dehydrogenase deficiency (3βHSD) is a rare disorder of sexual development and steroidogenesis. There are two isozymes of 3βHSD, HSD3B1 and HSD3B2. Human mutations are known for the HSD3B2...
4.
Udhane S, Pandey A, Hofer G, Mullis P, Fluck C
Sci Rep . 2015 May; 5:10132. PMID: 25970467
Androgens are essential for sexual development and reproduction. However, androgen regulation in health and disease is poorly understood. We showed that human adrenocortical H295R cells grown under starvation conditions acquire...
5.
Camats N, Audi L, Fernandez-Cancio M, Andaluz P, Mullis P, Carrascosa A, et al.
Sex Dev . 2015 Apr; 9(3):144-54. PMID: 25896302
Steroidogenic factor 1 (NR5A1/SF-1) mutations usually manifest in 46,XY individuals with variable degrees of disordered sex development and in 46,XX women with ovarian insufficiency. So far, there is no genotype-phenotype...
6.
Syrbe S, Hedrich U, Riesch E, Djemie T, Muller S, Moller R, et al.
Nat Genet . 2015 Mar; 47(4):393-399. PMID: 25751627
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations...
7.
Deillon E, Hauschild M, Faouzi M, Stoppa-Vaucher S, Elowe-Gruau E, Dwyer A, et al.
Horm Res Paediatr . 2015 Feb; 83(4):252-61. PMID: 25676059
Background/aims: Controversies still exist regarding the evaluation of growth hormone deficiency (GHD) in childhood at the end of growth. The aim of this study was to describe the natural history...
8.
Burckhardt M, Obmann V, Wolf R, Janner M, Fluck C, Mullis P
Gynecol Endocrinol . 2015 Jan; 31(5):349-54. PMID: 25585547
Background: Aromatase deficiency may result in a complete block of estrogen synthesis because of the failure to convert androgens to estrogens. In females, this results in virilisation at birth, ovarian...
9.
Saner C, Simonetti G, Wuhl E, Mullis P, Janner M
Atherosclerosis . 2014 Dec; 238(2):185-9. PMID: 25528426
Objective: Altered arterial stiffness is a recognized risk factor of poor cardiovascular health. Ambulatory arterial stiffness index (AASI, defined as one minus the regression slope of diastolic on systolic blood...
10.
del Pozo E, Janner M, Mackenzie A, Arampatzis S, Dixon A, Perrelet R, et al.
Growth Horm IGF Res . 2014 Apr; 24(2-3):83-8. PMID: 24735836
Objective: We investigated the skeletal growth profile of female rats from birth to senescence (100weeks) on the basis of sequential radiometrical, hormonal and biochemical parameters. Design: Weaning rats entered the...