R. Pfäffle

发表

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

L. Liang, A. Hofman, A. Uitterlinden, 2016, Human molecular genetics.

Dynamic alterations in linear growth and endocrine parameters in children with obesity and height reference values

J. Stanik, A. Körner, W. Kiess, 2021, EClinicalMedicine.

IGF signaling defects as causes of growth failure and IUGR

Wieland Kiess, H. Werner, W. Kiess, 2008, Trends in Endocrinology & Metabolism.

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.

Z. Gucev, A. Mohn, R. Pfäffle, 2020, The Journal of clinical endocrinology and metabolism.

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance

P. Kovacs, A. Tönjes, T. Kapellen, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Genetics of Human Stature: Insight from Single Gene Disorders

J. Kratzsch, W. Kiess, R. Odeh, 2011, Hormone Research in Paediatrics.

A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation.

W. Kiess, S. Wüller, J. Kratzsch, 2010, The Journal of clinical endocrinology and metabolism.

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

W. Kiess, S. Wüller, J. Kratzsch, 2010 .

Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.

J. Kratzsch, W. Kiess, R. Smith, 2006, The Journal of clinical endocrinology and metabolism.

Associations between Pituitary Imaging Abnormalities and Clinical and Biochemical Phenotypes in Children with Congenital Growth Hormone Deficiency: Data from an International Observational Study

C. Deal, C. Quigley, W. Blum, 2013, Hormone Research in Paediatrics.

Addison's Disease and Severe Encephalopathy in an Infant with HIV Infection

J. Allmendinger, V. Schuster, R. Pfäffle, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

W. Kiess, F. Hirsch, R. Pfäffle, 2017, Journal of clinical research in pediatric endocrinology.

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.

R. Pfäffle, J. Klammt, 2011, Best practice & research. Clinical endocrinology & metabolism.

Homozygous mutation of the IGF 1 receptor gene in a patient with severe pre-and postnatal growth failure and congenital malformations

E. Chouery, A. Mégarbané, R. Pfäffle, 2012 .

MRI Findings and Genotype Analysis in Patients with Childhood Onset Growth Hormone Deficiency- Correlation with Severity of Hypopituitarism

R. Pfäffle, M. Bettendorf, T. Zimmermann, 2007, Journal of pediatric endocrinology & metabolism : JPEM.

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

W. Kiess, W. Blum, J. Kratzsch, 2004, The Journal of clinical endocrinology and metabolism.

Design of, and first data from, PATRO Children, a multicentre, noninterventional study of the long-term efficacy and safety of Omnitrope® in children requiring growth hormone treatment

M. Szalecki, S. Zucchini, K. Schwab, 2013, Therapeutic advances in endocrinology and metabolism.

A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.

R. Abou Jamra, W. Kiess, J. T. Heiker, 2019, European journal of endocrinology.

Clinical Examples of Disturbed IGF Signaling: Intrauterine and Postnatal Growth Retardation due to Mutations of the Insulin-Like Growth Factor I Receptor (IGF-IR) Gene

J. Kratzsch, W. Kiess, K. Raile, 2005, Reviews in Endocrine and Metabolic Disorders.

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

G. Arnaldi, C. Eng, A. Fassina, 2007, The Journal of clinical endocrinology and metabolism.

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

E. Chouery, A. Mégarbané, R. Pfäffle, 2012, European journal of endocrinology.

High birth weights but not excessive weight gain prior to manifestation are related to earlier onset of diabetes in childhood: ‘accelerator hypothesis’ revisited

U. Rothe, W. Kiess, M. Vogel, 2014, Pediatric diabetes.

Diagnosis and Clinical Course of Three Adolescents with Amiodarone-Induced Hyperthyroidism

W. Kiess, R. Pfäffle, A. Bertsche, 2018, Pediatric Cardiology.

GH and IGF-1 Replacement in Children.

W. Kiess, R. Pfäffle, 2020, Handbook of experimental pharmacology.

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree

W. Kiess, M. Vogel, J. Kratzsch, 2015, Clinical endocrinology.

Growth and Final Height Among Children With Phenylketonuria

C. Baerwald, M. Scholz, W. Kiess, 2017, Pediatrics.

Acceleration of BMI in Early Childhood and Risk of Sustained Obesity

A. Körner, W. Kiess, M. Vogel, 2018, The New England journal of medicine.

Neonatal diabetes mellitus with hypergalactosemia.

J. Altmüller, R. Pfäffle, G. Heimann, 1999, European journal of endocrinology.

Comparison of Adrenal Function Tests in Children - The Glucagon Stimulation Test Allows the Simultaneous Assessment of Adrenal Function and Growth Hormone Response in Children

J. Kratzsch, W. Kiess, R. Pfäffle, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

Age- and weight group-specific weight gain patterns in children and adolescents during the 15 years before and during the COVID-19 pandemic

A. Körner, T. Poulain, W. Kiess, 2021, International Journal of Obesity.

Alu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature

G. Rappold, G. Binder, M. Losekoot, 2013, Hormone Research in Paediatrics.

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

H. V. van Duyvenvoorde, M. Losekoot, J. Wit, 2013, Hormone Research in Paediatrics.

Downstream insulin-like growth factor.

W. Kiess, R. Pfäffle, J. Klammt, 2012, Endocrine development.

Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

J. Ross, E. Schönau, W. Blum, 2018, Hormone Research in Paediatrics.

Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.

R. Pfäffle, F. Hornemann, A. Merkenschlager, 2020, Neuropediatrics.

Early detection of growth disorders with the CrescNet system at the Leipzig treatment center.

R. Pfäffle, E. Keller, R. Gausche, 2011, Deutsches Arzteblatt international.

Genetic Defects during Later Stages of Pituitary Development : The Clinical Phenotype of Pit-1 and Prop-1 Mutations

R. Pfäffle, S. Wüller, G. Heimann, 2001 .

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

G. Borck, A. Topaloğlu, B. Yuksel, 2004, The Journal of clinical endocrinology and metabolism.

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

R. Pfäffle, W. Andler, J. Pohlenz, 1998, The Journal of clinical endocrinology and metabolism.

Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit‐1 gene

R. Pfäffle, H. Frisch, G. Häusler, 2000, Clinical endocrinology.

Pit-1 and Pituitary Function

J. Parks, R. Pfäffle, G. Heimann, 1993, The Journal of pediatric endocrinology.

Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature

M. Maghnie, J. Wit, M. Ranke, 2020, Journal of clinical research in pediatric endocrinology.

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

C. Lautier, F. Grigorescu, W. Kiess, 2003, The New England journal of medicine.

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

D. Friebe, W. Kiess, J. Kratzsch, 2012, PloS one.

Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development

S. Rhodes, R. Mullen, S. C. Colvin, 2007, Molecular and Cellular Endocrinology.

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.

Further stabilization and even decrease in the prevalence rates of overweight and obesity in German children and adolescents from 2005 to 2015: a cross-sectional and trend analysis

A. Körner, W. Kiess, M. Vogel, 2017, Public Health Nutrition.

Compound Heterozygous and Homozygous Mutations of the TSHβ Gene as a Cause of Congenital Central Hypothyroidism in Europe

K. Debatin, E. Schoenle, B. Karges, 2004, Hormone Research in Paediatrics.

Safety and Effectiveness of Omnitrope®, a Biosimilar Recombinant Human Growth Hormone: More Than 10 Years’ Experience from the PATRO Children Study

I. Kreitschmann-Andermahr, M. Bidlingmaier, S. Loche, 2020, Hormone Research in Paediatrics.

Blood pressure tracking in children and adolescents

K. Dittrich, W. Kiess, M. Vogel, 2013, Pediatric nephrology (Berlin, West).

Influence of seasonal variation on blood pressure measurements in children, adolescents and young adults

K. Dittrich, W. Kiess, M. Vogel, 2013, Pediatric Nephrology.

Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus

T. Reinehr, G. Binder, H. Dörr, 2020, Molecular and Cellular Pediatrics.

A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies.

K. Badenhoop, M. Stumvoll, P. Kovacs, 2015, The Journal of clinical endocrinology and metabolism.

How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease

M. Buchfelder, W. Kiess, F. Hirsch, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

[Does childhood obesity affect sexual development?].

A. Körner, W. Kiess, M. Geserick, 2013, Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz.

Effects of obesity on human sexual development

A. Körner, W. Kiess, A. Hiemisch, 2012, Nature Reviews Endocrinology.

Congenital hypothyroidism

A. Körner, W. Kiess, J. Kratzsch, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Idiopathic Growth Hormone Deficiency: A Vanishing Diagnosis?

K. Heimann, R. Pfäffle, S. Wüller, 2000, Hormone Research in Paediatrics.

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency

M. Stumvoll, P. Kovacs, A. Tönjes, 2013, BMC Endocrine Disorders.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Diana Le Duc, P. Bauer, J. Hentschel, 2019, bioRxiv.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Karolina Kot, J. Parks, M. Lemos, 2015, European Journal of Human Genetics.

Hormone replacement therapy in children: The use of growth hormone and IGF-I.

R. Pfäffle, 2015, Best practice & research. Clinical endocrinology & metabolism.

Genetics of Growth Disorders—Which Patients Require Genetic Testing?

J. Argente, R. Pfäffle, K. Tatton-Brown, 2019, Front. Endocrinol..

IGF1R mutations as cause of SGA.

W. Kiess, R. Pfäffle, J. Klammt, 2011, Best practice & research. Clinical endocrinology & metabolism.

Needle-Free and Needle-Based Growth Hormone Therapy in Children: A Pooled Analysis of Three Long-Term Observational Studies

T. Reinehr, T. Rohrer, R. Pfäffle, 2019, Hormone Research in Paediatrics.

Familial Combined Pituitary Hormone Deficiency Caused by PROP-1 Gene Mutation

D. Prayer, H. Stobbe, R. Pfäffle, 2002, Hormone Research in Paediatrics.

Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

R. Pfäffle, C. Partsch, F. Riepe, 2001, 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.

Thyroid and Other Autoimmune Diseases with Emphasis on Type 1 Diabetes Mellitus and Turner Syndrome

W. Kiess, T. Kapellen, A. Galler, 2007 .

Copy number variations in “classical” obesity candidate genes are not frequently associated with severe early-onset obesity in children

A. Morris, T. Schöneberg, A. Mahajan, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

M. Dattani, Shayne F. Andrew, V. Hwa, 2018, Nature Communications.

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

S. Amselem, C. Deal, J. Parks, 2018, EBioMedicine.

Pit-1: clinical aspects.

J. Wit, J. Parks, U. Eiholzer, 1996, Hormone research.

Harmonization of growth hormone measurements with different immunoassays by data adjustment

M. Scholz, G. Binder, M. Bidlingmaier, 2011, Clinical chemistry and laboratory medicine.

Pituitary Transcription Factors, POU1F1 and PROP1 Defects

K. Heimann, R. Pfäffle, S. Wüller, 2001 .

Human transmissible spongiform encephalopathies.

R. Paschke, S. Dave, F. Lammert, 1998, Releve epidemiologique hebdomadaire.

Growth hormone and growth hormone deficiency – still a lot to learn

A. Körner, W. Kiess, J. Kratzsch, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Adrenocorticotrope Deficiency with Clinical Evidence for Late Onset in Combined Pituitary Hormone Deficiency Caused by a Homozygous 301–302delAG Mutation of the PROP1 Gene

R. Paschke, W. Kiess, S. Neumann, 2004, Pituitary.

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

M. Bahçeci, R. Pfäffle, G. Mansmann, 2017, Journal of Human Genetics.

Posterior pituitary ectopia: another hint toward a genetic etiology.

D. Maintz, R. Pfäffle, E. Schönau, 2000, AJNR. American journal of neuroradiology.

GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice

T. Reinehr, G. Binder, L. Ibáñez, 2019, Hormone Research in Paediatrics.

The Influence of Body Mass Index on the Growth Hormone Peak Response regarding Growth Hormone Stimulation Tests in Children

A. Körner, W. Kiess, M. Vogel, 2022, Hormone Research in Paediatrics.

A prismatic case: A 31-year old man who did not miss his pituitary

W. Kiess, J. Kratzsch, R. Pfäffle, 2008, Hormones.

The hypothalamic‐pituitary‐adrenal axis in preterm infants weighing ≤ 1250 g: association with perinatal data and chronic lung disease

R. Pfäffle, H. Hörnchen, U. Merz, 1998, Acta paediatrica.

Long-Term Follow-Up of Childhood-Onset Hypopituitarism in Patients with the PROP-1 Gene Mutation

E. Hahn, H. Dörr, M. Pavel, 2003, Hormone Research in Paediatrics.

Ten years’ clinical experience with biosimilar human growth hormone: a review of efficacy data

P. Chanson, M. Szalecki, R. Pfäffle, 2017, Drug design, development and therapy.

Different relationships between the first 2 years on growth hormone treatment and the d3‐growth hormone receptor polymorphism in short small‐for‐gestational‐age (SGA) children

M. Ranke, H. Dörr, T. Rohrer, 2011, Clinical endocrinology.

Decreased Factor XIII Activity during Severe Henoch-Schoenlein Purpura - Does It Play a Role?

V. Schuster, R. Pfäffle, F. Prenzel, 2006, Klinische Padiatrie.

Acromegaly Induced by Growth Hormone Replacement Therapy

B. Boehm, B. Karges, W. Karges, 2004, Hormone Research in Paediatrics.

Four-Year Results from PATRO Children, a Multi-Centre, Non-Interventional Study of the Long-Term Safety and Efficacy of Omnitrope (R) in Children Requiring Growth Hormone Treatment

T. Battelino, S. Kanumakala, C. Höybye, 2016 .

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.

A. Körner, W. Kiess, R. Odeh, 2010, The Journal of clinical endocrinology and metabolism.

A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

W. Kiess, K. Raile, H. Stobbe, 2005, European journal of endocrinology.

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

M. Dattani, Shayne F. Andrew, V. Hwa, 2018, Nature Communications.

A New C-Terminal Located Mutation (V272ter) in the PIT-1 Gene Manifesting with Severe Congenital Hypothyroidism

R. Pfäffle, S. Wüller, G. Heimann, 2002, Hormone Research in Paediatrics.

Contents Vol. 80, 2013

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

Age-specific stabilization in obesity prevalence in German children: a cross-sectional study from 1999 to 2008.

W. Kiess, G. Werther, R. Odeh, 2011, International journal of pediatric obesity : IJPO : an official journal of the International Association for the Study of Obesity.

Adolescent growth: genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013.

M. Low, B. Bogin, T. Meitinger, 2014, Pediatric endocrinology reviews : PER.

Genetics of growth hormone gene expression.

L. Meacham, J. Parks, R. Pfäffle, 1993, Hormone research.

Genetics of growth in the normal child

R. Pfäffle, 2006 .

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

A. Körner, W. Kiess, R. Odeh, 2010 .

IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA)

Z. Gucev, V. Tasic, J. Kratzsch, 2018, Open access Macedonian journal of medical sciences.

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

C. Cowell, A. Kumar, G. Ambler, 2013, The Journal of clinical endocrinology and metabolism.