Primus-E Mullis

Summary

Affiliation: University Hospital
Country: Switzerland

Publications

  1. doi request reprint Regulation of fetal growth: consequences and impact of being born small
    Primus E Mullis
    Division of Paediatric Endocrinology, University Children s Hospital, University of Bern, CH 3010 Bern, Switzerland
    Best Pract Res Clin Endocrinol Metab 22:173-90. 2008
  2. ncbi request reprint [The diabetic child in the emergency room]
    Ch E Flück
    Abteilung für Pädiatrische Endokrinologie und Diabetologie, Medizinische Universitats Kinderklinik, Inselspital, Bern
    Ther Umsch 62:571-6. 2005
  3. ncbi request reprint Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones
    Primus E Mullis
    Paediatric Endocrinology, University Children s Hospital, Inselspital, Bern, Switzerland
    Horm Res 58:53-66. 2002
  4. doi request reprint Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics
    Primus E Mullis
    Division of Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, Bern, Switzerland
    Best Pract Res Clin Endocrinol Metab 25:25-41. 2011
  5. ncbi request reprint New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency
    Primus E Mullis
    University Children s Hospital, Pediatric Endocrinology, Inselspital, Bern, Switzerland
    J Pediatr Endocrinol Metab 15:1301-10. 2002
  6. ncbi request reprint Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study
    Primus E Mullis
    Pediatric Endocrinology, Diabetology, and Metabolism, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
    J Clin Endocrinol Metab 90:2089-96. 2005
  7. ncbi request reprint Genetic control of growth
    Primus E Mullis
    Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
    Eur J Endocrinol 152:11-31. 2005
  8. ncbi request reprint Genetics of growth hormone deficiency
    Primus E Mullis
    Paediatric Endocrinology and Diabetology and Metabolism, University Children s Hospital, University of Berne, Inselspital, CH 3010 Bern, Switzerland
    Endocrinol Metab Clin North Am 36:17-36. 2007
  9. doi request reprint [Growth: what is normal?]
    P E Mullis
    Pädiatrische Endokrinologie, Diabetologie und Metabolik, Universitäts Kinderklinik, Inselspital, Bern
    Praxis (Bern 1994) 98:953-60. 2009
  10. doi request reprint Biological determinants of responsiveness to growth hormone: pharmacogenomics and personalized medicine
    Primus E Mullis
    Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, Bern, Switzerland
    Endocr Dev 18:67-82. 2010

Collaborators

Detail Information

Publications33

  1. doi request reprint Regulation of fetal growth: consequences and impact of being born small
    Primus E Mullis
    Division of Paediatric Endocrinology, University Children s Hospital, University of Bern, CH 3010 Bern, Switzerland
    Best Pract Res Clin Endocrinol Metab 22:173-90. 2008
    ..In general, growth disorders only become apparent postnatally, but they may well be related to fetal life. Thus, fetal growth always needs to be considered in the overall picture of human growth as well as in its metabolic development...
  2. ncbi request reprint [The diabetic child in the emergency room]
    Ch E Flück
    Abteilung für Pädiatrische Endokrinologie und Diabetologie, Medizinische Universitats Kinderklinik, Inselspital, Bern
    Ther Umsch 62:571-6. 2005
    ..For unexplained hypoglycemia or major treatment adjustments the diabetic child or adolescent may need to be readmitted to the diabetic ward of a hospital to avoid repeat, potentially life-threatening hypoglycemia...
  3. ncbi request reprint Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones
    Primus E Mullis
    Paediatric Endocrinology, University Children s Hospital, Inselspital, Bern, Switzerland
    Horm Res 58:53-66. 2002
    ..Furthermore, this type of IGHD, in addition to some other specific GH-1 gene mutations, provides the most important opportunity to shed light on cell-biological mechanisms far beyond its pure description at the DNA/RNA level...
  4. doi request reprint Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics
    Primus E Mullis
    Division of Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, Bern, Switzerland
    Best Pract Res Clin Endocrinol Metab 25:25-41. 2011
    ..These defects are discussed in various different chapters within this book, whereas, the impact of alterations of the GHRH-, GHRH-receptor- --as well as the GH-receptor (GHR) gene--will be discussed here...
  5. ncbi request reprint New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency
    Primus E Mullis
    University Children s Hospital, Pediatric Endocrinology, Inselspital, Bern, Switzerland
    J Pediatr Endocrinol Metab 15:1301-10. 2002
    ..This type of IGHD, in addition to some other specific GH-1 gene mutations, provides the most important opportunity for shedding light on cellular biological mechanisms beyond its description at the DNA/RNA level...
  6. ncbi request reprint Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study
    Primus E Mullis
    Pediatric Endocrinology, Diabetology, and Metabolism, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
    J Clin Endocrinol Metab 90:2089-96. 2005
    ..The message of clinical importance from these studies is that the pituitary endocrine status of all such patients should continue to be monitored closely over the years because further hormonal deficiencies may evolve with time...
  7. ncbi request reprint Genetic control of growth
    Primus E Mullis
    Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
    Eur J Endocrinol 152:11-31. 2005
    ....
  8. ncbi request reprint Genetics of growth hormone deficiency
    Primus E Mullis
    Paediatric Endocrinology and Diabetology and Metabolism, University Children s Hospital, University of Berne, Inselspital, CH 3010 Bern, Switzerland
    Endocrinol Metab Clin North Am 36:17-36. 2007
    ..The role of two most important transcription factors, POU1F1 (Pit-1) and PROP 1, is discussed...
  9. doi request reprint [Growth: what is normal?]
    P E Mullis
    Pädiatrische Endokrinologie, Diabetologie und Metabolik, Universitäts Kinderklinik, Inselspital, Bern
    Praxis (Bern 1994) 98:953-60. 2009
    ..Therefore, the common knowledge about the normal pattern/course of growth is essential in order to act proactively whenever the child's growth does not progress adequately...
  10. doi request reprint Biological determinants of responsiveness to growth hormone: pharmacogenomics and personalized medicine
    Primus E Mullis
    Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, Bern, Switzerland
    Endocr Dev 18:67-82. 2010
    ....
  11. pmc Genetics of isolated growth hormone deficiency
    Primus E Mullis
    Inselspital, Division of Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Bern, Switzerland
    J Clin Res Pediatr Endocrinol 2:52-62. 2010
    ..However, although transcription factors regulating the pituitary gland development may cause multiple pituitary hormone deficiency, they may present initially as GHD...
  12. ncbi request reprint Transcription factors in pituitary development
    P E Mullis
    University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
    Mol Cell Endocrinol 185:1-16. 2001
    ..Therefore, to study the different steps in morphogenesis will shed light onto developmental processes which will open a most fascinating time not only for basic scientists, biologist but also for clinicians...
  13. ncbi request reprint Growth hormone regulates growth hormone receptor gene transcription in primary human thyroid cells
    P E Mullis
    Department of Paediatrics, Division of Paediatric Endocrinology, University Children s Hospital, Inselspital, CH 3010, Bern, Switzerland
    Mol Cell Endocrinol 166:111-9. 2000
    ..Furthermore, TSH does not a have a major impact on GHR/GHBP gene regulation...
  14. ncbi request reprint Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein
    P E Mullis
    Department of Paediatrics, University Childrens Hospital, Inselspital, Bern, Switzerland
    Mol Cell Endocrinol 131:89-96. 1997
    ..In conclusion, we present data showing that GHBP on its own has an effect on GH-receptor gene expression...
  15. ncbi request reprint Regulation of human growth hormone receptor gene transcription by triiodothyronine (T3)
    P E Mullis
    Department of Paediatrics, Inselspital, Bern, Switzerland
    Mol Cell Endocrinol 147:17-25. 1999
    ..In conclusion, we present data showing that T3 on its own has a stimulatory effect on GHR/GHBP gene transcription which is indirect and additive to the GH-induced changes...
  16. ncbi request reprint Transcription factors in pituitary gland development and their clinical impact on phenotype
    P E Mullis
    University Children s Hospital, Inselspital, Bern, Switzerland
    Horm Res 54:107-19. 2000
    ..Several genes encoding homeobox transcription factors are important for normal pituitary gland development and eventually for hormone production...
  17. doi request reprint [Role of complementary medicine in type 1 diabetes mellitus in two Swiss centres]
    U A Scheidegger
    Abteilung für Endokrinologie Diabetologie Metabolik, Universitätsklinik für Kinderheilkunde, Inselspital Bern
    Praxis (Bern 1994) 98:1001-5. 2009
    ..The modalities most frequently used are cinnamon, homeopathy, magnesium and special beverages (mainly teas). Thus, good collaboration between health care professionals will allow optimal patient care...
  18. ncbi request reprint [Hypoglycaemia--diagnosis and therapy in emergencies]
    J M Nuoffer
    Leiter Metabolik, Universitäts Kinderklink, Bern
    Ther Umsch 62:543-8. 2005
    ..A rapid definitive diagnosis is important for the specific treatment and to avoid recurrent and prolonged hypoglycaemia...
  19. ncbi request reprint "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency
    J Deladoey
    Division of Pediatric Endocrinology, University Children s Hospital, Bern, Switzerland
    J Clin Endocrinol Metab 84:1645-50. 1999
    ..In conclusion, the PROP1 gene seems to be a major candidate gene for CPHD; however, further studies are needed to evaluate other genetic defects involved in pituitary development...
  20. ncbi request reprint Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion
    J Deladoey
    Division of Pediatric Endocrinology, University Children s Hospital, CH 3010 Bern, Switzerland
    J Clin Endocrinol Metab 86:3941-7. 2001
    ..Together, the experiments seem to support the hypothesis that R183H mutant GH severely impaired the GH-regulated secretion and may, therefore, be the cause of this specific form of isolated GH deficiency type II...
  21. ncbi request reprint [Hermaphroditos in Greek mythology--DSD in moderne medicine]
    A Oestmann
    Universitätsklinik für Allgemeine Innere Medizin, Inselspital, Bern
    Praxis (Bern 1994) 98:31-4. 2009
    ..The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified...
  22. ncbi request reprint Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)
    C Flück
    Division of Pediatric Endocrinology, University Children s Hospital, Bern, Switzerland
    J Clin Endocrinol Metab 83:3727-34. 1998
    ..All of the subjects entered puberty spontaneously, and the two females also experienced menarche and periods before a replacement therapy was necessary...
  23. ncbi request reprint Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor
    Y Cao
    Department of Paediatrics, Inselspital, CH 3010 Bern, Switzerland
    Pediatr Res 38:962-6. 1995
    ..Although gross structural abnormalities in the whole gene have been ruled out in this study, mutations in the carboxyl terminus are still possible, and, therefore, the remaining part of the gene needs to be sequenced...
  24. doi request reprint Insulin-like growth factor-I treatment in primary growth hormone insensitivity: effect of recombinant human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-binding protein-3 complex
    P Tonella
    Paediatric Endocrinology Diabetology and Metabolism, University Children s Hospital, Inselspital, Bern, Switzerland
    Horm Res Paediatr 73:140-7. 2010
    ....
  25. ncbi request reprint New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism
    J M Vuissoz
    Division of Pediatric Endocrinology, University Children s Hospital, 3010 Bern, Switzerland
    J Clin Endocrinol Metab 86:4468-71. 2001
    ..Consequently, this isolated TSH deficiency follows an autosomal recessive mode of inheritance...
  26. ncbi request reprint Microalbuminuria in diabetes mellitus: efficacy of a new screening method in comparison with timed overnight urine collection
    U Meinhardt
    Division of Paediatric Endocrinology and Diabetology, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
    J Diabetes Complications 17:254-7. 2003
    ..Although the screening compliance is improved, in terms of analysing random morning spot urine for MA, we cannot recommend CM in a paediatric diabetic outpatient setting because the specificity is far too low...
  27. doi request reprint Do centimetres matter? Self-reported versus estimated height measurements in parents
    T Gozzi
    Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Inselspital, Bern, Switzerland
    Acta Paediatr 99:569-74. 2010
    ....
  28. ncbi request reprint Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy
    J Deladoey
    Division of Pediatric Endocrinology, University Children s Hospital, Bern, Switzerland
    J Clin Endocrinol Metab 84:4050-4. 1999
    ..In contrast, estradiol levels are physiologically about a 7-fold lower in boys than in girls, and serum inhibin levels remain elevated even though levels of FSH, LH, and testosterone are decreased...
  29. ncbi request reprint [Sun-tanned and still not healthy!]
    D Spörri
    Pädiatrische Endokrinologie, Diabetologie and Metabolik, Medizinische Universitats Kinderklinik, Inselspital, Universitatsspital Bern
    Praxis (Bern 1994) 95:1135-9. 2006
    ..A therapy of mineralcorticoids and glucocorticoids was initiated and a special gluten-free diet was prescribed. On this treatment our patient recovered promptly...
  30. ncbi request reprint Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)
    C E Flück
    Department of Paediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, 3010 Bern, Switzerland
    Eur J Endocrinol 145:439-44. 2001
    ..To study clinical, morphological and molecular characteristics in a Swiss family with autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI)...
  31. doi request reprint Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action
    Vibor Petkovic
    University Children s Hospital, Pediatric Endocrinology, Inselspital CH 3010 Bern, Switzerland
    J Clin Endocrinol Metab 95:731-9. 2010
    ....
  32. doi request reprint Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations
    Vibor Petkovic
    University Children s Hospital, Pediatric Endocrinology, Inselspital, CH 3010 Bern, Switzerland
    Endocrinology 151:2650-8. 2010
    ..5-kDa GH from the severest mutant alleles, thereby accelerating autodestruction of somatotrophs in a vicious cycle...
  33. ncbi request reprint A cross-sectional international survey of continuous subcutaneous insulin infusion in 377 children and adolescents with type 1 diabetes mellitus from 10 countries
    Thomas Danne
    Kinderkrankenhaus auf der Bult, Hannover, Germany
    Pediatr Diabetes 6:193-8. 2005
    ....