P. Mullis

发表

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

B. Dick, C. Flück, A. Pandey, 2011, PloS one.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Molecular and Cellular Basis of Isolated Dominant-Negative Growth Hormone Deficiency, IGHD Type II: Insights on the Secretory Pathway of Peptide Hormones

P. Mullis, J. Deladoëy, P. Dannies, 2002, Hormone Research in Paediatrics.

[Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study].

C. Flück, P. Mullis, B. Kuhlmann, 1999, Schweizerische medizinische Wochenschrift.

Regulation of fetal growth: consequences and impact of being born small.

P. Tonella, P. Mullis, 2008, Best practice & research. Clinical endocrinology & metabolism.

Clinical and biochemical description of a novel CYP 21 A 2 gene mutation 962 _ 963 insA using a new 3 D model for the P 450 c 21 protein

C. Flück, A. Pandey, P. Mullis, 2006 .

Genetic evaluation of short stature.

J. Wit, W. Kiess, P. Mullis, 2011, Best practice & research. Clinical endocrinology & metabolism.

Childhood Insulin-Dependent Diabetes mellitus: Initial Presentation and Management in the Nineties

A. Truttmann, P. Mullis, M. Bianchetti, 1998, Mineral and Electrolyte Metabolism.

Do centimetres matter? Self‐reported versus estimated height measurements in parents

M. Dattani, P. Hindmarsh, P. Mullis, 2010, Acta paediatrica.

Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster.

P. Mullis, P. Brickell, C. Brook, 1990, The Journal of clinical endocrinology and metabolism.

Genetic homogeneity of autoimmune polyglandular disease type I.

L. Peltonen, G. Romeo, J. Perheentupa, 1996, American journal of human genetics.

GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity.

M. Thevis, C. Flück, P. Mullis, 2007, European journal of endocrinology.

Butyrate Increases Intracellular Calcium Levels and Enhances Growth Hormone Release from Rat Anterior Pituitary Cells via the G-Protein-Coupled Receptors GPR41 and 43

C. Flück, P. Mullis, R. Ammann, 2014, PloS one.

Effect of Growth Hormone and Oxandrolone Treatment on Glucose Metabolism in Turner Syndrome

P. Mullis, O. Tönz, E. Joss, 2000, Hormone Research in Paediatrics.

Subject Index Vol. 57, 2002

W. Hop, S. Asa, Z. Hochberg, 2002, Hormone Research in Paediatrics.

Persistent microalbuminuria in adolescents with Type I (insulin-dependent) diabetes mellitus is associated to early rather than late puberty

P. Diem, P. Mullis, K. Zuppinger, 1994, European Journal of Pediatrics.

Intermittent microalbuminuria in children with type 1 diabetes mellitus without clinical evidence of nephropathy

P. Mullis, K. Zuppinger, H. Köchli, 1988, European Journal of Pediatrics.

Training modalities: over-reaching and over-training in athletes, including a study of the role of hormones.

H. Hoppeler, P. Mullis, M. Vogt, 2003, Best practice & research. Clinical endocrinology & metabolism.

IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion.

C. Flück, A. Pandey, P. Mullis, 2015, The Journal of clinical endocrinology and metabolism.

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, C. Flück, P. Mullis, 2010, Hormone Research in Paediatrics.

Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.

M. Dattani, I. Robinson, P. Clayton, 2007, The Journal of clinical endocrinology and metabolism.

Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).

M. Bidlingmaier, C. Flück, P. Mullis, 2005, The Journal of clinical endocrinology and metabolism.

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

I. Robinson, P. Czernichow, G. Binder, 2005, The Journal of clinical endocrinology and metabolism.

Impact of different doses of ethinyl oestradiol on reduction of final height in constitutionally tall girls

P. Mullis, E. Joss, R. Zurbrügg, 1994, European Journal of Pediatrics.

Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.

I. Robinson, P. Czernichow, G. Binder, 2005, European journal of endocrinology.

Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.

S. Gallati, P. Mullis, A. Jorge, 2004, European journal of endocrinology.

Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.

P. Mullis, M. Levine, R. Salvatori, 2002, Molecular endocrinology.

Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB.

J. Phillips, P. Mullis, A. Mohamadi, 2009, The Journal of clinical endocrinology and metabolism.

Constitutionally Short Stature: Analysis of the Insulin-Like Growth Factor-I Gene and the Human Growth Hormone Gene Cluster

P. Mullis, P. Brickell, C. Brook, 1991, Pediatric Research.

Description of the SAGhE Cohort: A Large European Study of Mortality and Cancer Incidence Risks after Childhood Treatment with Recombinant Growth Hormone

A. Swerdlow, J. Coste, P. Clayton, 2015, Hormone Research in Paediatrics.

M. Hauschild, J. Bohlius, P. Mullis, 2015, PloS one.

Towards Optimal Treatment with Growth Hormone in Short Children and Adolescents: Evidence and Theses

D. Dunger, M. Ranke, M. Geffner, 2013, Hormone Research in Paediatrics.

Radiometrical, hormonal and biological correlates of skeletal growth in the female rat from birth to senescence.

S. Lamberts, P. Mullis, K. Lippuner, 2014, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Systematic Reviews and Meta-and Pooled Analyses Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children : A Bayesian Meta-Analysis

M. Zwahlen, G. Binder, P. Clayton, 2012 .

The Aromatase Cytochrome P-450 and Its Clinical Impact

U. Meinhardt, P. Mullis, 2002, Hormone Research in Paediatrics.

Normal hepatic glycogen storage after fasting and feeding in children and adolescents with type 1 diabetes

R. Kreis, C. Boesch, J. Slotboom, 2003, Pediatric diabetes.

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.

A. Hattersley, S. Ellard, C. Flück, 2005, Swiss medical weekly.

[Diabetes in childhood and adolescence].

G. Theintz, P. Mullis, Mullis Pe, 1994, Schweizerische medizinische Wochenschrift. Supplementum.

Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed Type I diabetes mellitus with and without ketoacidosis

C. Flück, P. Mullis, B. Kuhlmann, 1999, Diabetologia.

Absent or Delayed Adrenarche in Pit-1/POU1F1 Deficiency

F. de Zegher, L. Ibáñez, P. Mullis, 2005, Hormone Research in Paediatrics.

Differential Regulation of Human 3β-Hydroxysteroid Dehydrogenase Type 2 for Steroid Hormone Biosynthesis by Starvation and Cyclic Amp Stimulation: Studies in the Human Adrenal NCI-H295R Cell Model

C. Flück, P. Mullis, P. Kempná, 2013, PloS one.

Microalbuminuria in diabetes mellitus: efficacy of a new screening method in comparison with timed overnight urine collection.

P. Diem, U. Meinhardt, C. Flück, 2003, Journal of diabetes and its complications.

The frequency and amplitude of growth hormone secretory episodes as determined by deconvolution analysis are increased in adolescents with insulin dependent diabetes mellitus and are unaffected by short‐term euglycaemia

D. Dunger, P. Hindmarsh, J. Edge, 1993, Clinical endocrinology.

A cross‐sectional international survey of continuous subcutaneous insulin infusion in 377 children and adolescents with type 1 diabetes mellitus from 10 countries

C. de Beaufort, P. Hindmarsh, M. Phillip, 2005, Pediatric diabetes.

Prospective randomised treatment with recombinant human growth hormone in cystic fibrosis

P. Mullis, P. Birrer, A. Schibler, 2003, Archives of disease in childhood.

The response of trained athletes to six weeks of endurance training in hypoxia or normoxia.

H. Hoppeler, P. Mullis, M. Vogt, 2003, International journal of sports medicine.

Fetal haemoglobin levels in adult Type 1 (insulin-dependent) diabetic patients

P. Diem, A. Hirt, P. Mullis, 1993, Diabetologia.

Increased prevalence of fetal haemoglobin in Type 1 (insulin-dependent) diabetes mellitus

P. Mullis, K. Zuppinger, J. Schuler, 1989, Diabetologia.

Children’s and adolescent’s self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study

C. Flück, P. Mullis, M. Janner, 2013, International Journal of Pediatric Endocrinology.

Half‐life of exogenous growth hormone following suppression of endogenous growth hormone secretion with somatostatin in type I (insulin‐dependent) diabetes mellitus

D. Dunger, P. Hindmarsh, D. Matthews, 1992, Clinical endocrinology.

Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells.

C. Flück, P. Mullis, P. Kempná, 2010, Endocrinology.

Diagnostics of endocrine function in children and adolescents

M. Ranke, P. Mullis, 2003 .

High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes.

C. Flück, P. Mullis, P. Ballinari, 2009, Swiss medical weekly.

[Doping in adolescence].

P. Mullis, M. Kamber, 2007, Therapeutische Umschau. Revue therapeutique.

Genetics of growth hormone deficiency.

P. Mullis, 2007, Endocrinology and metabolism clinics of North America.

Delayed puberty in boys.

P. Mullis, E. Joss, 1994, Current therapy in endocrinology and metabolism.

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

P. Hindmarsh, P. Mullis, A. Eblé, 1995, Pediatric Research.

Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis

I. Cree, C. Flück, P. Mullis, 2011, Hormones.

The effect of increased lipid intake on hormonal responses during aerobic exercise in endurance-trained men.

C. Boesch, P. Diem, E. Christ, 2006, European journal of endocrinology.

Impact of del32–71-GH (Exon 3 Skipped GH) on Intracellular GH Distribution, Secretion and Cell Viability: A Quantitative Confocal Microscopy Analysis

S. Yousefi, P. Mullis, J. Deladoëy, 2006, Hormone Research in Paediatrics.

Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein

P. Mullis, J. Nuoffer, M. Postel-Vinay, 1997, Molecular and Cellular Endocrinology.

Growth hormone regulates growth hormone receptor gene transcription in primary human thyroid cells

P. Diem, P. Mullis, N. O'Donovan, 2000, Molecular and Cellular Endocrinology.

Regulation of human growth hormone receptor gene transcription by triiodothyronine (T3)

P. Mullis, U. Marti, U. Bürgi, 1999, Molecular and Cellular Endocrinology.

The Role of Zinc Dynamics in Growth Hormone Secretion

P. Mullis, M. Schöni, Maria Consolata Miletta, 2013, Hormone Research in Paediatrics.

From endoplasmic reticulum to secretory granules: role of zinc in the secretory pathway of growth hormone.

P. Mullis, Maria Consolata Miletta, Vibor Petkovic, 2012, Endocrine development.

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

M. Dattani, P. Hindmarsh, P. Clayton, 2009, The Journal of clinical endocrinology and metabolism.

Effect of Growth Hormone Treatment on Hypoglycemia in a Patient with both Hepatic Glycogen Synthase and Isolated Growth Hormone Deficiencies

P. Mullis, P. Blümel, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Reduced longevity in untreated patients with isolated growth hormone deficiency.

S. Gallati, P. Mullis, S. Salemi, 2003, The Journal of clinical endocrinology and metabolism.

The FGFRL1 Receptor Is Shed from Cell Membranes, Binds Fibroblast Growth Factors (FGFs), and Antagonizes FGF Signaling in Xenopus Embryos*

Florian Steinberg, R. Kälin, L. Zhuang, 2009, The Journal of Biological Chemistry.

Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion.

G. Binder, C. Flück, P. Mullis, 2013, Endocrinology.

Regulation of human growth hormone-binding protein production by human growth hormone in a hepatoma cell line

T. Lund, P. Mullis, R. Holl, 1995, Molecular and Cellular Endocrinology.

Experimental arthritis: effect on growth parameters and total skeletal calcium.

P. Mullis, K. Lippuner, E. D. Del Pozo, 2009, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

M. Losekoot, J. Wit, C. Flück, 2013, European journal of endocrinology.

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.

C. Flück, A. Pandey, P. Mullis, 2011, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.

S. Gallati, P. Mullis, R. Pfäffle, 2003, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Agreement between HbA1c measured by DCA 2000 and by HPLC: effects of fetal hemoglobin concentrations.

P. Diem, P. Mullis, U. Marti, 2004, Archives of medical research.

Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency

P. Hindmarsh, P. Mullis, C. Brook, 1990, European Journal of Pediatrics.

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

M. Nistal, C. Flück, A. Pandey, 2012, The Journal of clinical endocrinology and metabolism.

Growth Failure Secondary to Radiotherapy of Brain Tumors in Childhood

P. Mullis, R. Greiner, E. Bleher, 1995 .

A Microcystic Adnexal Carcinoma in the Auditory Canal 15 Years after Radiotherapy of a 12-Year-Old Boy with Nasopharynx Carcinoma

P. Mullis, R. Greiner, R. H. Laeng, 2005, Strahlentherapie und Onkologie.

Genetics of isolated growth hormone deficiency.

P. Mullis, 2010, Journal of clinical research in pediatric endocrinology.

Effect of different growth hormone (GH) mutants on the regulation of GH-receptor gene transcription in a human hepatoma cell line.

C. Strasburger, P. Mullis, J. Deladoëy, 2002, European journal of endocrinology.

Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism.

C. Flück, A. Pandey, P. Mullis, 2010, Biochemical and biophysical research communications.

Restoration of mutant cytochrome P450 reductase activity by external flavin

C. Flück, A. Pandey, P. Mullis, 2010, Molecular and Cellular Endocrinology.

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain.

C. Flück, P. Mullis, P. Kempná, 2012, Endocrinology.

Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight

C. Weisstanner, C. Flück, P. Mullis, 2013, Hormone Research in Paediatrics.

Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn2+ for Normal Growth and Development

Primus E. Mullis, C. Flück, P. Mullis, 2013, International journal of endocrinology.

Positional cloning of the APECED gene

Shinsei Minoshima, Stylianos E. Antonarakis, Hamish S. Scott, 1997, Nature Genetics.

Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase.

Amit V Pandey, C. Flück, A. Pandey, 2007, Molecular endocrinology.

Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.

P. Jaeger, N. Yoshimura, H. Harada, 1997, The Journal of clinical endocrinology and metabolism.

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

A. Grüters, H. Biebermann, H. Krude, 2003, The Journal of clinical endocrinology and metabolism.

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.

G. Theintz, J. Achermann, C. Flück, 2005, The Journal of clinical endocrinology and metabolism.

Regulation of human growth hormone receptor gene expression by human growth hormone in a human hepatoma cell line

T. Lund, P. Mullis, P. Brickell, 1991, Molecular and Cellular Endocrinology.

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

J. A. Blanco, C. Flück, N. Camats, 2015, PloS one.

The Essential Role of the Aromatase/P450arom

U. Meinhardt, P. Mullis, 2002, Seminars in reproductive medicine.

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

E. Rajpert-De Meyts, C. Tapia, C. Flück, 2015, European journal of endocrinology.

Suprasellar Germinomas in Childhood and Adolescence: Diagnostic Pitfalls

P. Mullis, Z. Stanga, U. Buergi, 1998, Journal of pediatric endocrinology & metabolism : JPEM.

Prevalence of Human GH-1 Gene Alterations in Patients with Isolated Growth Hormone Deficiency

P. Hindmarsh, P. Mullis, A. Eblé, 1998, Pediatric Research.

RNA Interference in Mammalian Cell Systems

P. Mullis, Didier Lochmatter, 2011, Hormone Research in Paediatrics.

Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line.

M. Dattani, C. Flück, P. Mullis, 2000, The Journal of endocrinology.

Association of the (CA)n repeat polymorphism of insulin‐like growth factor‐I and −202 A/C IGF‐binding protein‐3 promoter polymorphism with adult height in patients with severe growth hormone deficiency

M. Dattani, P. Hindmarsh, C. Flück, 2012, Clinical endocrinology.

Genetic defects causing functional and structural isolated growth hormone deficiency

P. Mullis, Vibor Petkovic, 2011 .

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.

P. Mullis, 2011, Best practice & research. Clinical endocrinology & metabolism.

Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency.

M. Dattani, P. Hindmarsh, C. Flück, 2008, The Journal of clinical endocrinology and metabolism.

Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.

I. Robinson, H. Simon, S. Yousefi, 2007, Endocrinology.

An exon splice enhancer mutation causes autosomal dominant GH deficiency.

P. Mullis, J. Phillips, M. Prince, 2002, The Journal of clinical endocrinology and metabolism.

Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.

P. Mullis, P. Stocker, J. Deladoëy, 2001, The Journal of clinical endocrinology and metabolism.

Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controls.

J. Cogan, P. Mullis, J. Phillips, 1997, European journal of endocrinology.

Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster.

N. Akar, P. Mullis, A. Akıncı, 1992, The Journal of clinical endocrinology and metabolism.

The use of the polymerase chain reaction in prenatal diagnosis of growth hormone gene deletions

P. Mullis, P. Brickell, 1992, Clinical endocrinology.

Prevalence of Human Growth Hormone-1 Gene Deletions among Patients with Isolated Growth Hormone Deficiency from Different Populations

P. Mullis, A. Akıncı, C. Brook, 1992, Pediatric Research.

Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities.

C. Flück, P. Mullis, Jean-Marc Nuoffer, 2007, The Journal of endocrinology.

Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II.

C. Flück, P. Mullis, Maria Consolata Miletta, 2017, Biochemical pharmacology.

Isolated growth hormone deficiency type 2: from gene to therapy.

P. Mullis, Maria Consolata Miletta, Didier Lochmatter, 2012, Endocrine development.

Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin‐like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients

P. Hindmarsh, P. Mullis, C. Brook, 1991, Clinical endocrinology.

Genetic control of growth.

P. Mullis, 2005, European journal of endocrinology.

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

Wei Wu, P. Hindmarsh, C. Flück, 1999, The Journal of clinical endocrinology and metabolism.

Mutations in PROP1 cause familial combined pituitary hormone deficiency

John A. Phillips, Joy D. Cogan, Wei Wu, 1998, Nature Genetics.

Role of DNA methylation in the tissue-specific expression of the CYP17A1 gene for steroidogenesis in rodents.

B. Jégou, B. Frey, Rasoul Alikhani-Koupaei, 2009, The Journal of endocrinology.

Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing.

C. Flück, P. Mullis, Maria Consolata Miletta, 2016, Endocrinology.

Growth hormone replacement therapy for adults: into the new millennium.

P. Sönksen, D. Clemmons, B. Bengtsson, 2002, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Role of AMP-Activated Protein Kinase on Steroid Hormone Biosynthesis in Adrenal NCI-H295R Cells

C. Flück, P. Mullis, P. Kempná, 2012, PloS one.

Transcription factors in pituitary development

P. Mullis, 2001, Molecular and Cellular Endocrinology.

Transcription Factors in Pituitary Gland Development and Their Clinical Impact on Phenotype

P. Mullis, 2000, Hormone Research in Paediatrics.

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, P. Mullis, U. Marti, 1998, The Journal of clinical endocrinology and metabolism.

Cancer Risks in Patients Treated With Growth Hormone in Childhood: The SAGhE European Cohort Study

A. Swerdlow, J. Coste, P. Clayton, 2017, The Journal of clinical endocrinology and metabolism.

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).

P. Kopp, C. Flück, P. Mullis, 2001, European journal of endocrinology.

Use of Combined Liothyronine and Thyroxine Therapy for Consumptive Hypothyroidism Associated with Hepatic Haemangiomas in Infancy

M. Dattani, P. Mullis, C. Peters, 2010, Hormone Research in Paediatrics.

Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis

C. Flück, A. Pandey, P. Mullis, 2015, Scientific Reports.

Hypermagnesiuria in children with newly diagnosed insulin-dependent diabetes mellitus.

P. Mullis, M. Bianchetti, E. Peheim, 1994, American journal of nephrology.

Genetics of the Growth Hormone Axis

P. Mullis, B. Kuhlmann, 1997, Journal of pediatric endocrinology & metabolism : JPEM.

Autosomal-Dominant Isolated Growth Hormone Deficiency (IGHD Type II) with Normal GH-1 Gene

P. Mullis, B. Otten, P. Cambiaso, 2006, Hormone Research in Paediatrics.

Glimepiride treatment and IGF-I in adolescents with type 1 diabetes: a prospective, randomized, double-blind, placebo-controlled study.

J. Högel, P. Mullis, S. Wudy, 2003, Diabetes care.

RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10.

P. Mullis, S. Liechti‐Gallati, H. Moser, 1990, American journal of human genetics.

Natural History of Growth Hormone Deficiency in a Pediatric Cohort

M. Hauschild, M. Faouzi, G. Theintz, 2015, Hormone Research in Paediatrics.

Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin.

G. Binder, M. Ranke, P. Mullis, 2002, European journal of endocrinology.

Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II).

G. Binder, M. Ranke, P. Mullis, 2007, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Heterozygous GHR gene mutation in a child with idiopathic short stature

P. Mullis, C. Meazza, S. Pagani, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

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.

I. Robinson, C. Flück, P. Mullis, 2010, Endocrinology.

Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.

M. Thevis, C. Flück, P. Mullis, 2007, The Journal of clinical endocrinology and metabolism.

Extracellular magnesium depletion in pediatric patients with insulin-dependent diabetes mellitus.

A. Truttmann, P. Mullis, M. Husmann, 1997, Mineral and Electrolyte Metabolism.

Biological determinants of responsiveness to growth hormone: pharmacogenomics and personalized medicine.

P. Mullis, 2010, Endocrine development.

High-Fiber Diets May Be Responsible for Hypomagnesaemia in Diabetic Patients

P. Mullis, M. Bianchetti, 1998, Nephron.

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

S. Gallati, P. Mullis, J. Deladoëy, 2001, The Journal of clinical endocrinology and metabolism.

Regulation of growth-hormone-receptor gene expression by growth hormone and pegvisomant in human mesangial cells.

C. Strasburger, U. Meinhardt, P. Mullis, 2003, Kidney international.

Genetics of Growth

J. Wit, P. Mullis, 2013, Hormone Research in Paediatrics.

Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.

C. Flück, A. Pandey, P. Mullis, 2006, European journal of endocrinology.

Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase.

Amit V Pandey, C. Flück, A. Pandey, 2010, Biochemical and biophysical research communications.

Circadian and ultradian cardiovascular rhythmicity in obese children

P. Mullis, E. Wühl, G. Simonetti, 2016, European Journal of Pediatrics.

Increased ambulatory arterial stiffness index in obese children.

P. Mullis, E. Wühl, G. Simonetti, 2015, Atherosclerosis.

Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells.

I. Robinson, M. Bidlingmaier, C. Flück, 2010, Endocrinology.

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.

M. Dattani, C. Flück, A. Pandey, 2010, The Journal of clinical endocrinology and metabolism.

Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth

P. Mullis, J. Nuoffer, U. Wiesmann, 1997, Journal of Inherited Metabolic Disease.

Impact of Estrogen Replacement throughout Childhood on Growth, Pituitary-Gonadal Axis and Bone in a 46,XX Patient with CYP19A1 Deficiency

C. Flück, P. Mullis, M. Janner, 2012, Hormone Research in Paediatrics.

Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement

C. Flück, P. Mullis, V. Obmann, 2015, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

The Journal of Clinical Endocrinology & Metabolism Printed in U.S.A. Copyright © 1999 by The Endocrine Society Aromatase Deficiency Caused by a Novel P450 arom Gene Mutation: Impact of Absent Estrogen Production on Serum Gonadotropin Concentration in a Bo

N. Harada, C. Flück, P. Mullis, 2022 .

Molecular Genetics and Bioinformatics Methods for Diagnosis of Endocrine Disorders

A. Pandey, P. Mullis, 2011 .

Pioglitazone Inhibits Androgen Production in NCI-H295R Cells by Regulating Gene Expression of CYP17 and HSD3B2

C. Flück, P. Mullis, P. Kempná, 2007, Molecular Pharmacology.

Effects of dietary fat on muscle substrates, metabolism, and performance in athletes.

H. Hoppeler, P. Mullis, H. Howald, 2003, Medicine and science in sports and exercise.

The worldwide fight against doping: from the beginning to the World Anti-Doping Agency.

P. Mullis, M. Kamber, 2010, Endocrinology and metabolism clinics of North America.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

Adult height in constitutionally tall stature: accuracy of five different height prediction methods.

P. Mullis, E. Joss, R. Temperli, 1992, Archives of disease in childhood.

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study

C. Flück, N. Camats, M. Fernández-Cancio, 2015, Sexual Development.

Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.

P. Mullis, J. Heinrich, L. Gruñeiro-Papendieck, 2003, Thyroid : official journal of the American Thyroid Association.

Comparison of fructosamine and glycated haemoglobin in children with Type 1 (insulin-dependent) diabetes mellitus

P. Mullis, K. Zuppinger, H. Völkle, 1988, Diabetologia.

Metabolic control of type 1 diabetic patients followed at the University Children's Hospital in Berne: have we reached the goal?

P. Tonella, C. Flück, P. Mullis, 2010, Swiss medical weekly.

Alteration of ZnT5-Mediated Zinc Import into the Early Secretory Pathway Affects the Secretion of Growth Hormone from Rat Pituitary Cells

C. Flück, P. Mullis, Maria Consolata Miletta, 2014, Hormone Research in Paediatrics.

Increased enzymuria in diabetic children without persistent minimal albuminuria

P. Mullis, V. Schwitzgebel, U. Wiesmann, 1997 .

Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade

L. Molinari, P. Mullis, M. Lang-Muritano, 2001, Diabetologia.

Which factors account for renal stone formation in cystic fibrosis?

P. Jaeger, P. Mullis, K. Lippuner, 2003, Clinical nephrology.

Molecular biology and its application in paediatric endocrinology

P. Mullis, J. K. Wagner, 2005, European Journal of Pediatrics.

Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH research society

M. M. Ilondo, E. Ghigo, K. Tachibana, 2000 .

A 2‐year multicentre, open‐label, randomized, controlled study of growth hormone (Genotropin®) treatment in very young children born small for gestational age: Early Growth and Neurodevelopment (EGN) Study

Raoul Rooman, H. Wollmann, P. Mullis, 2016, Clinical endocrinology.

Influence of growth hormone receptor d3 and full-length isoforms on growth hormone response and final height in patients with severe growth hormone deficiency

M. Dattani, P. Hindmarsh, C. Flück, 2007 .