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Roland Pfäffle

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G M C Flemming; N Howard; Jürgen Klammt; A Kumar; G Ambler; Y Bao; W F Blum; C Cowell; K Donaghue; J Sanchez; H Stobbe; Roland Pfäffle
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
Roland Pfäffle; Ellen Schuck; Karl Otfried Schwab; Mieczyslaw Szalecki; Mieczyslaw Walczak; Markus Zabransky; Otilia Marginean; Stefano Zucchini
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.
Marie-Hélène Gannagé-Yared; Jürgen Klammt; Hala Mégarbané; Roland Pfäffle; Joelle Abou Ghoch; Nancy Choucair; Eliane Chouery; Sandra Corbani; André Mégarbané
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

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All Publications

2013: G M C Flemming; N Howard; Jürgen Klammt; A Kumar; G Ambler; Y Bao; W F Blum; C Cowell; K Donaghue; J Sanchez; H Stobbe; Roland Pfäffle
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism 2013;98(3):E567-75.
2013: Roland Pfäffle; Ellen Schuck; Karl Otfried Schwab; Mieczyslaw Szalecki; Mieczyslaw Walczak; Markus Zabransky; Otilia Marginean; Stefano Zucchini
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.
Therapeutic advances in endocrinology and metabolism 2013;4(1):3-11.
2013: Marie-Hélène Gannagé-Yared; Jürgen Klammt; Hala Mégarbané; Roland Pfäffle; Joelle Abou Ghoch; Nancy Choucair; Eliane Chouery; Sandra Corbani; André Mégarbané
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
European journal of endocrinology / European Federation of Endocrine Societies 2013;168(1):K1-7.
2012: Roland Pfäffle; Wieland Kiess; Jürgen Klammt
Downstream insulin-like growth factor.
Endocrine development 2012;23():42-51.
2012: Eva Müller; Roland Pfäffle; Tillmann Wallborn; Desiree Dunstheimer; Daniela Friebe; Wieland Kiess; Jürgen Klammt; Jürgen Kratzsch; Tassilo Kruis; S Laue; Peter H Heidemann
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.
PloS one 2012;7(5):e38220.
2012: Zoran Gucev; Jürgen Klammt; Jürgen Kratzsch; Liljana Saranac; Heike Stobbe; Velibor Tasic; Roland Pfäffle
A novel GH1 mutation in a family with isolated growth hormone deficiency type II.
Hormone research in pædiatrics 2012;77(3):200-4.
2011: Helmuth G Dörr; Berthold P Hauffa; Otto Mehls; Roland Pfäffle; Michael B Ranke; Tilman Rohrer; Nikolaus Stahnke; Markus Bettendorf
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.
Clinical endocrinology 2011;75(5):656-60.
2011: Roland Pfäffle; Wieland Kies; Jürgen Klammt
From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.
Pediatric endocrinology reviews : PER 2011;9 Suppl 1():529-34.
2011: Anne Müller; Roland Pfäffle; Markus Scholz; Joachim Thiery; Martin Bidlingmaier; Gerhard Binder; O Blankenstein; Annegret Heider; Wieland Kiess; Antje Körner; Jürgen Kratzsch
Harmonization of growth hormone measurements with different immunoassays by data adjustment.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2011;49(7):1135-42.
2011: P Schonhoff; A Körner; Jürgen Kratzsch; Roland Pfäffle; Wieland Kiess
Long term clinical management of girls with Turner syndrome at a center of pediatric endocrinology.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2011;119(6):327-33.
2011: Susann Blüher; Ruth Gausche; Eberhard Keller; Christof Meigen; Rasha Odeh; Roland Pfäffle; Matthew Sabin; George Werther; Wieland Kiess
Age-specific stabilization in obesity prevalence in German children: a cross-sectional study from 1999 to 2008.
International journal of pediatric obesity : IJPO : an official journal of the International Association for the Study of Obesity 2011;6(2-2):e199-206.
2011: Wolfgang Hoepffner; Roland Pfäffle; Ruth Gausche; Christof Meigen; Eberhard Keller
Early detection of growth disorders with the CrescNet system at the Leipzig treatment center.
Deutsches Ärzteblatt international 2011;108(8):123-8.
2011: Jürgen Klammt; Wieland Kiess; Roland Pfäffle
IGF1R mutations as cause of SGA.
Best practice & research. Clinical endocrinology & metabolism 2011;25(1):191-206.
2011: Roland Pfäffle; Jürgen Klammt
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
Best practice & research. Clinical endocrinology & metabolism 2011;25(1):43-60.
2011: Wieland Kiess; Jürgen Klammt; J Kratzsch; T Kruis; E Müller; R Odeh; M Schlicke; T Wallborn; Roland Pfäffle
Genetics of human stature: Insight from single gene disorders.
Hormone research in pædiatrics 2011;76 Suppl 3():11-3.
2010: Tillmann Wallborn; Stefan Wüller; Jürgen Klammt; Tassilo Kruis; Jürgen Kratzsch; Gabriele Schmidt; Marina Schlicke; Eva Müller; Hildegard Schmitz van de Leur; Wieland Kiess; Roland Pfäffle
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.
The Journal of clinical endocrinology and metabolism 2010;95(5):2316-24.
2010: Skadi Beblo; Johannes Allmendinger; Roland Pfäffle; Jürgen Strehlau; Manuela Schulz; Uwe Wintergerst; Volker Schuster; Wieland Kiess; Andreas Merkenschlager
Addison's disease and severe encephalopathy in an infant with HIV infection.
Journal of pediatric endocrinology & metabolism : JPEM 2010;23(3):297-302.
2010: Tassilo Kruis; Jürgen Klammt; Assimina Galli-Tsinopoulou; Tillmann Wallborn; Marina Schlicke; Eva Müller; Jürgen Kratzsch; Antje Körner; Rasha Odeh; Wieland Kiess; Roland Pfäffle
Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.
The Journal of clinical endocrinology and metabolism 2010;95(3):1137-42.
2008: Jürgen Klammt; Roland Pfäffle; Haim Werner; Wieland Kiess
IGF signaling defects as causes of growth failure and IUGR.
Trends in endocrinology and metabolism: TEM 2008;19(6):197-205.
2008: Stefanie Petzold; Alexandra Keller; Eberhard Keller; Christof Meigen; Wolfgang Hirsch; Jürgen Kratzsch; Wieland Kiess; Roland Pfäffle
A prismatic case: A 31-year old man who did not miss his pituitary.
Hormones (Athens, Greece) 2008;7(3):263-70.
2007: A Keller; Uta Bierbach; J Mieke; Roland Pfäffle; Jürgen Kratzsch; Wieland Kiess; Eberhard Keller; Dieter Körholz
[Results of an endocrinological follow-up of patients with childhood-or adolescent-onset malignancies].
Klinische Pädiatrie 2007;219(6):333-8.
2007: J F W Weigel; N Janzen; Roland Pfäffle; Joachim Thiery; Wieland Kiess; Uta Ceglarek
Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia.
Journal of inherited metabolic disease 2007;30(4):610.
2007: Rachel D Mullen; Stephanie C Colvin; Chad S Hunter; Jesse J Savage; Emily C Walvoord; Amrit Bhangoo; Svetlana Ten; Johannes Weigel; Roland Pfäffle; Simon J Rhodes
Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development.
Molecular and cellular endocrinology 2007;265-266():190-5.
2006: Klemens Raile; Jürgen Klammt; Anke Schneider; A Keller; S Laue; R Smith; Roland Pfäffle; Jürgen Kratzsch; Eberhard Keller; Wieland Kiess
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.
The Journal of clinical endocrinology and metabolism 2006;91(6):2264-71.
2005: Klemens Raile; H Stobbe; Ralf-Bodo Tröbs; Wieland Kiess; Roland Pfäffle
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.
European journal of endocrinology / European Federation of Endocrine Societies 2005;153(3):353-8.
2005: Wieland Kiess; Jürgen Kratzsch; Eberhard Keller; Anke Schneider; Klemens Raile; Jürgen Klammt; Bertolt Seidel; Antje Garten; Hannelore Schmidt; Roland Pfäffle
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.
Reviews in endocrine & metabolic disorders 2005;6(3):183-7.
2004: Antje Böttner; Eberhard Keller; Jürgen Kratzsch; Heike Stobbe; Johannes F W Weigel; Alexandra Keller; Wolfgang Hirsch; Wieland Kiess; Werner F Blum; Roland Pfäffle
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
The Journal of clinical endocrinology and metabolism 2004;89(10):5256-65.
2004: Guntram Borck; A Kemal Topaloglu; Eckhard Korsch; Ursula Martiné; Gabriele Wildhardt; Neslihan Onenli-Mungan; Bilgin Yuksel; Ulrich Aumann; Gerhard Koch; Güler Ozer; Roland Pfäffle; Neal H Scherberg; Samuel Refetoff; Joachim Pohlenz
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
The Journal of clinical endocrinology and metabolism 2004;89(8):4136-41.
2004: Beate Karges; Bruno Leheup; Eugen J Schoenle; Cintia Castro-Correia; Manuel Fontoura; Roland Pfäffle; Werner Andler; Klaus-Michael Debatin; Wolfram Karges
Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.
Hormone research 2004;62(3):149-55.
2004: Beate Karges; Roland Pfäffle; Bernhard O Boehm; Wolfram Karges
Acromegaly induced by growth hormone replacement therapy.
Hormone research 2004;61(4):165-9.
2003: M Jennifer Abuzzahab; Anke Schneider; Audrey Goddard; FLORIN GRIGORESCU; Corinne Lautier; Eberhard Keller; Wieland Kiess; Jürgen Klammt; Jürgen Kratzsch; Doreen Osgood; Roland Pfäffle; Klemens Raile; Bertolt Seidel; Robert J Smith; Steven D Chernausek
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
The New England journal of medicine 2003;349(23):2211-22.
2003: Souzan Salemi; Amélie Besson; Andrée Eblé; Sabina Gallati; Roland Pfäffle; Primus E Mullis
New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2003;13(5):264-8.
2003: Marianne E Pavel; Johannes Hensen; Roland Pfäffle; Eckhart Hahn; Helmuth G Dörr
Long-term follow-up of childhood-onset hypopituitarism in patients with the PROP-1 gene mutation.
Hormone research 2003;60(4):168-73.
2002: C Lamesch; Susanne Neumann; Roland Pfäffle; Wieland Kiess; Ralf Paschke
Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene.
Pituitary 2002;5(3):163-8.
2002: Julia Crone; Roland Pfäffle; H Stobbe; Daniela Prayer; I Gomez; Herwig Frisch
Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects.
Hormone research 2002;57(3-4):120-6.
2001: Felix G Riepe; Carl-Joachim Partsch; O Blankenstein; Heiner Mönig; Roland Pfäffle; Wolfgang G Sippell
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
The Journal of clinical endocrinology and metabolism 2001;86(9):4353-7.
2001: O Blankenstein; R Mühlenberg; C Kim; Stefan Wüller; Roland Pfäffle; Gerhard Heimann
A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus.
Hormone research 2001;56(3-4):81-6.
2000: Herwig Frisch; C Kim; Gabriele Häusler; Roland Pfäffle
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene.
Clinical endocrinology 2000;52(5):661-5.
2000: Roland Pfäffle; O Blankenstein; Stefan Wüller; K Heimann; Gerhard Heimann
Idiopathic growth hormone deficiency: a vanishing diagnosis?
Hormone research 2000;53 Suppl 3():1-8.
1999: Roland Pfäffle; O Blankenstein; Stefan Wüller; H Kentrup
Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1999;88(433):33-41.
1999: H Kentrup; J Altmüller; Roland Pfäffle; Gerhard Heimann
Neonatal diabetes mellitus with hypergalactosemia.
European journal of endocrinology / European Federation of Endocrine Societies 1999;141(4):379-81.
1998: BM Doeker; Roland Pfäffle; J Pohlenz; Werner Andler
Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.
The Journal of clinical endocrinology and metabolism 1998;83(5):1762-5.
1998: Ulrich Merz; Roland Pfäffle; Thomas Peschgens; Helmut Hörnchen
The hypothalamic-pituitary-adrenal axis in preterm infants weighing < or = 1250 g: association with perinatal data and chronic lung disease.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(3):313-7.
1998: W Wu; Joy D Cogan; Roland Pfäffle; Jeremy S Dasen; Herwig Frisch; SM O'Connell; SE Flynn; Milton R. Brown; Primus E Mullis; John Parks; John A Phillips; Michael G Rosenfeld
Mutations in PROP1 cause familial combined pituitary hormone deficiency.
Nature genetics 1998;18(2):147-9.
1997: Ulrich Merz; Roland Pfäffle; Thomas Peschgens; Helmut Hörnchen
[Function of the hypothalamo-hypophyseal-adrenal axis to corticotropin-releasing hormone test in premature infants with bronchopulmonary dysplasia].
Zeitschrift für Geburtshilfe und Neonatologie 1997;201(6):253-7.
1997: Reinhard W Holl; Roland Pfäffle; C Kim; Wolfgang Sorgo; WM Teller; Gerhard Heimann
Combined pituitary deficiencies of growth hormone, thyroid stimulating hormone and prolactin due to Pit-1 gene mutation: a case report.
European journal of pediatrics 1997;156(11):835-7.
1997: Roland Pfäffle; R Martinez; C Kim; Herwig Frisch; Jan Lebl; B Otten; Gerhard Heimann
GH and TSH deficiency.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 1997;105 Suppl 4():1-5.
1996: Roland Pfäffle; C Kim; B Otten; J M Wit; U Eiholzer; Gerhard Heimann; J Parks
Pit-1: clinical aspects.
Hormone research 1996;45 Suppl 1():25-8.
1993: Roland Pfäffle; John Parks; Milton R. Brown; Gerhard Heimann
Pit-1 and pituitary function.
The Journal of pediatric endocrinology 1993;6(3-4):229-33.
1993: Heino Skopnik; H Kentrup; G Kusenbach; Roland Pfäffle; R Kock
[Glucose homeostasis in cystic fibrosis. Oral glucose tolerance test in comparison with formula administration].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1993;141(1):42-7.
1993: John Parks; H Abdul-Latif; E Kinoshita; Lillian R Meacham; Roland Pfäffle; Milton R. Brown
Genetics of growth hormone gene expression.
Hormone research 1993;40(1-3):54-61.
1992: John Parks; Roland Pfäffle; Milton R. Brown
New genetic findings in old syndromes.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1992;383():73-7; discussion 78.
1992: Roland Pfäffle; G E DiMattia; John Parks; Milton R. Brown; J M Wit; M Jansen; H Van der Nat; J L Van den Brande; M G Rosenfeld; H A Ingraham
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.
Science (New York, N.Y.) 1992;257(5073):1118-21.