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Paul-Martin Holterhus

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Maik Welzel; Emine Esin Yalinbas Senses; Neslihan Tekin; Leyla Akin; Anja Büscher; Tülay Güran; Wolfgang Högler; Paul-Martin Holterhus; Beate Karges; Heiner Kentrup; Birgul Kirel; Julia Leonards; Berthold P Hauffa; Felix G Riepe
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
Alexandra E Kulle; Paul-Martin Holterhus; Maik Welzel; Felix G Riepe
Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data.
Agnès Linglart; Giovanna Mantovani; Maria Teresa Muñoz-Calvo; Arrate Pereda; Guiomar Perez de Nanclares; Annette Richter-Unruh; Dorothée Schmidt; Jesús Argente; Sara Berrade; Guylene Bertrand; Emese Boros; Pierre Bougnères; Marco Castori; Virginie Chassot; Eric Clauser; Helena Fryssira; Yasemin Gunes; Claudine Heinrichs; Olaf Hiort; Paul-Martin Holterhus; Alma Kuechler; Bruno Leheup; Philippe Wicart; Oscar Rubio Cabezas; Caroline Silve
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

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2013: Maik Welzel; Emine Esin Yalinbas Senses; Neslihan Tekin; Leyla Akin; Anja Büscher; Tülay Güran; Wolfgang Högler; Paul-Martin Holterhus; Beate Karges; Heiner Kentrup; Birgul Kirel; Julia Leonards; Berthold P Hauffa; Felix G Riepe
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
European journal of endocrinology / European Federation of Endocrine Societies 2013;168(5):707-15.
2013: Alexandra E Kulle; Paul-Martin Holterhus; Maik Welzel; Felix G Riepe
Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data.
Hormone research in pædiatrics 2013;79(1):22-31.
2012: Agnès Linglart; Giovanna Mantovani; Maria Teresa Muñoz-Calvo; Arrate Pereda; Guiomar Perez de Nanclares; Annette Richter-Unruh; Dorothée Schmidt; Jesús Argente; Sara Berrade; Guylene Bertrand; Emese Boros; Pierre Bougnères; Marco Castori; Virginie Chassot; Eric Clauser; Helena Fryssira; Yasemin Gunes; Claudine Heinrichs; Olaf Hiort; Paul-Martin Holterhus; Alma Kuechler; Bruno Leheup; Philippe Wicart; Oscar Rubio Cabezas; Caroline Silve
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
The Journal of clinical endocrinology and metabolism 2012;97(12):E2328-38.
2012: Lutz Wünsch; Paul-Martin Holterhus; Lukas Wessel; Olaf Hiort
Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis.
BJU international 2012;110(11 Pt C):E958-65.
2012: Ilhem Ben Charfeddine; Hechmi Ben Hamouda; Slaheddine Chouchane; Eric Clauser; Fathi Amri; Abdelkarim Ayedi; Paul-Martin Holterhus; Najoua Kahloul; Saloua Makni; Samir M'Rabet; Felix G Riepe; Ali Saad; Hassen Sboui; Mohamed Tahar Sfar; Sihem Trimech; Noura Zouari; Moez Gribaa
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
Gene 2012;507(1):20-6.
2012: Ilhem Ben Charfeddine; Labiba Adala; Abdelbasset Amara; Fathi Amri; Paul-Martin Holterhus; Najoua Kahloul; Alexandra E Kulle; Ons Mamaï; Amira Mili; Felix G Riepe; Ali Saad; Moez Gribaa
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
General and comparative endocrinology 2012;175(3):514-8.
2012: Volker Gassling; Jürgen Hedderich; Dorothee Herbers; Paul-Martin Holterhus; Alexandra Kulle; Uwe Niederberger; Jörg Wiltfang; Wolf-Dieter Gerber
Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study.
PloS one 2012;7(7):e41015.
2012: Markus Haag; Tina Hamann; Paul-Martin Holterhus; Alexandra E Kulle; Felix G Riepe; Horst Wenck; Thomas Blatt; Reto Ivo Peirano
Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism.
Dermato-endocrinology 2012;4(1):58-64.
2012: Michela Barbaro; Susanne Bens; Jürgen Brämswig; Andrea Haake; Paul-Martin Holterhus; Juan Pedro Lopez-Siguero; Udo Menken; Monika Mix; Michael Peter; Wolfgang G Sippell; Anna Wedell; Felix G Riepe
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Hormone research in pædiatrics 2012;77(2):100-7.
2012: Ralf Werner; S Wudy; S Bertelloni; U Döhnert; M F Hartmann; Paul-Martin Holterhus; A Kulle; H Merz; Felix G Riepe; I Sommerfeld; Olaf Hiort
Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiency.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012;6(4):161-8.
2011: Maik Welzel; Felix G Riepe; Mahesh Appari; Nuria Bramswig; Paul-Martin Holterhus
Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2011;21(6):336-42.
2011: A E Kulle; Paul-Martin Holterhus; M Welzel; Felix G Riepe
Principles and clinical applications of liquid chromatography - tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones.
Journal of endocrinological investigation 2011;34(9):702-8.
2011: Paul-Martin Holterhus
Molecular androgen memory in sex development.
Pediatric endocrinology reviews : PER 2011;9 Suppl 1():515-8.
2011: Susanne Bens; Andrea Haake; Paul-Martin Holterhus; Reiner Siebert; Ulrich Stephani; Holger Tönnies; Inga Vater; Almuth Caliebe
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.
European journal of medical genetics 2011;54(5):e501-4.
2011: Guy T'Sjoen; Griet De Cuypere; Stan Monstrey; Piet Hoebeke; F Kenneth Freedman; Mahesh Appari; Paul-Martin Holterhus; John Van Borsel; Martine Cools
Male gender identity in complete androgen insensitivity syndrome.
Archives of sexual behavior 2011;40(3):635-8.
2011: Daw-Yang Hwang; Shang-Jyh Hwang; Alexandra E Kulle; Mei-Chuan Kuo; Felix G Riepe; Richard J Auchus; Mei-Chyn Chao; Paul-Martin Holterhus; Chi-Chih Hung; Hung-Chun Chen
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.
PloS one 2011;6(9):e25492.
2011: S Bens; O Ammerpohl; J I Martin-Subero; M Appari; J Richter; O Hiort; R Werner; Felix G Riepe; R Siebert; Paul-Martin Holterhus
Androgen receptor mutations are associated with altered epigenomic programming as evidenced by HOXA5 methylation.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011;5(2):70-6.
2010: M Welzel; H-P Schwarz; J Hedderich; Helmuth G Dörr; G Binder; J H Brämswig; H Krude; Annette Richter-Unruh; M Niedziela; Jörg Gromoll; Nils Krone; Felix G Riepe; Paul-Martin Holterhus
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 2010;95(5):2443-50.
2010: A E Kulle; Felix G Riepe; D Melchior; Olaf Hiort; Paul-Martin Holterhus
A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data.
The Journal of clinical endocrinology and metabolism 2010;95(5):2399-409.
2010: Susanne Bens; Angelika Mohn; Bilgin Yüksel; Alexandra E Kulle; Matthias Michalek; Franco Chiarelli; Mehmet Nuri Ozbek; Ivo Leuschner; Joachim Grötzinger; Paul-Martin Holterhus; Felix G Riepe
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.
The Journal of clinical endocrinology and metabolism 2010;95(3):1301-8.
2009: Mahesh Appari; Ralf Werner; Lutz Wünsch; Gunnar Cario; Janos Demeter; Olaf Hiort; Felix G Riepe; James D Brooks; Paul-Martin Holterhus
Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.
Journal of molecular medicine (Berlin, Germany) 2009;87(6):623-32.
2009: Felix G Riepe; Miguel X P van Bemmelen; Francois Cachat; Hansjörg Plendl; Ivan Gautschi; Nils Krone; Paul-Martin Holterhus; Gerald Theintz; Laurent Schild
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
Clinical endocrinology 2009;70(2):252-8.
2009: B Kremke; C Bergwitz; W Ahrens; Snjezana M Schütt; M Schumacher; V Wagner; Paul-Martin Holterhus; H Jüppner; Olaf Hiort
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2009;117(2):49-56.
2009: Nils Krone; Joachim Grötzinger; Paul-Martin Holterhus; Wolfgang G Sippell; Hans-Peter Schwarz; Felix G Riepe
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).
Hormone research 2009;72(5):281-6.
2009: Paul-Martin Holterhus; Jan-Hendrik Bebermeier; Ralf Werner; Janos Demeter; Annette Richter-Unruh; Gunnar Cario; Mahesh Appari; Reiner Siebert; Felix G Riepe; James D Brooks; Olaf Hiort
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.
BMC genomics 2009;10():292.
2008: Felix G Riepe; Olaf Hiort; Joachim Grötzinger; Wolfgang G Sippell; Nils Krone; Paul-Martin Holterhus
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
The Journal of clinical endocrinology and metabolism 2008;93(7):2891-5.
2008: Tilman Rohrer; Eva Stierkorb; Matthias Grabert; Paul-Martin Holterhus; Thomas Kapellen; Ina Knerr; Monika Mix; Reinhard W Holl
Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system.
European journal of pediatrics 2008;167(7):793-9.
2008: Maik Welzel; Nele Wüstemann; Gunter Simic-Schleicher; Helmuth G Dörr; Egbert Schulze; Guftar Shaikh; Peter Clayton; Joachim Grötzinger; Paul-Martin Holterhus; Felix G Riepe
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2008;93(4):1418-25.
2008: U Jochumsen; Ralf Werner; N Miura; A Richter-Unruh; Olaf Hiort; Paul-Martin Holterhus
Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2008;2(6):302-8.
2008: B I Jakisch; V M Wagner; B Heidtmann; R Lepler; Paul-Martin Holterhus; Thomas Kapellen; C Vogel; Joachim Rosenbauer; Reinhard W Holl
Comparison of continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI) in paediatric Type 1 diabetes: a multicentre matched-pair cohort analysis over 3 years.
Diabetic medicine : a journal of the British Diabetic Association 2008;25(1):80-5.
2007: Paul-Martin Holterhus; Rainer Odendahl; Sandra Oesingmann; Rudolf Lepler; Verena Wagner; Olaf Hiort; Reinhard W Holl
Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy.
Diabetes care 2007;30(3):568-73.
2007: Martina Jürgensen; Olaf Hiort; Paul-Martin Holterhus; Ute Thyen
Gender role behavior in children with XY karyotype and disorders of sex development.
Hormones and behavior 2007;51(3):443-53.
2007: Ute Hoppe; Lutz Wünsch; Paul-Martin Holterhus; D Jocham; A Richter-Unruh; Olaf Hiort
Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2007;1(4):230-7.
2007: Paul-Martin Holterhus; Uta Deppe; Ralf Werner; Annette Richter-Unruh; Jan-Hendrik Bebermeier; Lutz Wünsch; Susanne Krege; Hans-Udo Schweikert; Janos Demeter; Felix Riepe; Olaf Hiort; James D Brooks
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.
BMC genomics 2007;8():376.
2007: Felix G Riepe; Paul-Martin Holterhus
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families.
American journal of nephrology 2007;27(2):164-9.
2006: Jan-Hendrik Bebermeier; James D Brooks; Samuel E DePrimo; Ralf Werner; Uta Deppe; Janos Demeter; Olaf Hiort; Paul-Martin Holterhus
Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription.
Journal of molecular medicine (Berlin, Germany) 2006;84(11):919-31.
2006: Ralf Werner; Jenny Schütt; Sabine Hannema; Albrecht Röpke; Peter Wieacker; Olaf Hiort; Paul-Martin Holterhus
Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.
The Journal of steroid biochemistry and molecular biology 2006;101(1):1-10.
2006: Ralf Werner; Paul-Martin Holterhus; Gerhard Binder; Hans-Peter Schwarz; Michel Morlot; Dagmar Struve; Christine Marschke; Olaf Hiort
The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats.
The Journal of clinical endocrinology and metabolism 2006;91(9):3515-20.
2006: Ute Hoppe; Paul-Martin Holterhus; Lutz Wünsch; D Jocham; T Drechsler; Susanne Thiele; Christine Marschke; Olaf Hiort
Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor.
Journal of molecular medicine (Berlin, Germany) 2006;84(8):651-9.
2006: Nils Krone; Yulia Grischuk; Marina Müller; Ruth Elisabeth Volk; Joachim Grötzinger; Paul-Martin Holterhus; Wolfgang G Sippell; Felix G Riepe
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 2006;91(7):2682-8.
2006: Ute Thyen; Kathrin Lanz; Paul-Martin Holterhus; Olaf Hiort
Epidemiology and initial management of ambiguous genitalia at birth in Germany.
Hormone research 2006;66(4):195-203.
2005: Paul-Martin Holterhus; Ralf Werner; Ute Hoppe; J Bassler; Eckhard Korsch; M B Ranke; H G Dörr; Olaf Hiort
Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):1005-13.
2005: Paul-Martin Holterhus; Ralf Werner; Dagmar Struve; B P Hauffa; C Schroeder; Olaf Hiort
Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2005;113(8):457-63.
2005: Susanne Thiele; Ute Hoppe; Paul-Martin Holterhus; Olaf Hiort
Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males.
European journal of endocrinology / European Federation of Endocrine Societies 2005;152(6):875-80.
2005: Annette Richter-Unruh; Eckhard Korsch; Olaf Hiort; Paul-Martin Holterhus; Axel P N Themmen; S A Wudy
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.
European journal of endocrinology / European Federation of Endocrine Societies 2005;152(2):255-9.
2005: Olaf Hiort; Ute Thyen; Paul-Martin Holterhus
The basis of gender assignment in disorders of somatosexual differentiation.
Hormone research 2005;64 Suppl 2():18-22.
2005: Paul-Martin Holterhus; J Salzburg; Ralf Werner; Olaf Hiort
Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblasts.
Hormone research 2005;63(3):152-8.
2005: Ute Thyen; Hertha Richter-Appelt; Claudia Wiesemann; Paul-Martin Holterhus; Olaf Hiort
Deciding on gender in children with intersex conditions: considerations and controversies.
Treatments in endocrinology 2005;4(1):1-8.
2005: Olaf Hiort; Paul-Martin Holterhus; Ralf Werner; Christine Marschke; Ute Hoppe; Carl-Joachim Partsch; Felix G Riepe; John C Achermann; Dagmar Struve
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
The Journal of clinical endocrinology and metabolism 2005;90(1):538-41.
2003: Snjezana M Schütt; Marius Schumacher; Paul-Martin Holterhus; Stefanie Felgenhauer; Olaf Hiort
Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2003;149(4):317-21.
2003: Olaf Hiort; Sandra Reinecke; Ute Thyen; Martina Jürgensen; Paul-Martin Holterhus; Daniela Schön; Hertha Richter-Appelt
Puberty in disorders of somatosexual differentiation.
Journal of pediatric endocrinology & metabolism : JPEM 2003;16 Suppl 2():297-306.
2003: Olaf Hiort; Paul-Martin Holterhus
Androgen insensitivity and male infertility.
International journal of andrology 2003;26(1):16-20.
2003: Paul-Martin Holterhus; Olaf Hiort; Janos Demeter; Patrick O Brown; James D Brooks
Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor.
Genome biology 2003;4(6):R37.
2002: Paul-Martin Holterhus; S Piefke; Olaf Hiort
Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructs.
The Journal of steroid biochemistry and molecular biology 2002;82(4-5):269-75.
2002: W Twesten; R Johannisson; Paul-Martin Holterhus; Olaf Hiort
[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
Klinische Pädiatrie 2002;214(5):314-5.
2002: Olaf Hiort; Snjezana M Schütt; Monika Bals-Pratsch; Paul-Martin Holterhus; Christine Marschke; Dagmar Struve
A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency.
International journal of andrology 2002;25(1):55-8.
2001: Paul-Martin Holterhus; Hennie T Brüggenwirth; Albert O Brinkmann; Olaf Hiort
Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome.
Trends in genetics : TIG 2001;17(11):627-8.
2001: OJ Hellwinkel; Paul-Martin Holterhus; Dagmar Struve; Christine Marschke; N Homburg; Olaf Hiort
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.
The Journal of clinical endocrinology and metabolism 2001;86(6):2569-75.
2000: Paul-Martin Holterhus; G H G Sinnecker; Olaf Hiort
Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity.
The Journal of clinical endocrinology and metabolism 2000;85(9):3245-50.
2000: Olaf Hiort; Paul-Martin Holterhus; T Horter; W Schulze; B Kremke; Monika Bals-Pratsch; G H G Sinnecker; K Kruse
Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
The Journal of clinical endocrinology and metabolism 2000;85(8):2810-5.
2000: Olaf Hiort; Paul-Martin Holterhus
The molecular basis of male sexual differentiation.
European journal of endocrinology / European Federation of Endocrine Societies 2000;142(2):101-10.
2000: W Twesten; Paul-Martin Holterhus; Wolfgang G Sippell; Michel Morlot; H Schumacher; B Schenk; Olaf Hiort
Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.
Hormone research 2000;53(1):26-31.
1999: Paul-Martin Holterhus; J Wiebel; G H G Sinnecker; Hennie T Brüggenwirth; Wolfgang G Sippell; Albert O Brinkmann; K Kruse; Olaf Hiort
Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.
Pediatric research 1999;46(6):684-90.
1999: C Schultz; Paul-Martin Holterhus; A Seidel; S Jonas; Michael Barthel; K Kruse; Peter Bucsky
Chronic recurrent multifocal osteomyelitis in children.
The Pediatric infectious disease journal 1999;18(11):1008-13.
1999: Paul-Martin Holterhus; G H G Sinnecker; H A Wollmann; Dagmar Struve; N Homburg; K Kruse; Olaf Hiort
Expression of two functionally different androgen receptors in a patient with androgen insensitivity.
European journal of pediatrics 1999;158(9):702-6.
1999: OJ Hellwinkel; K Bull; Paul-Martin Holterhus; N Homburg; Dagmar Struve; Olaf Hiort
Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression.
The Journal of steroid biochemistry and molecular biology 1999;68(1-2):1-9.
1998: Olaf Hiort; G H G Sinnecker; Paul-Martin Holterhus; EM Nitsche; K Kruse
Inherited and de novo androgen receptor gene mutations: investigation of single-case families.
The Journal of pediatrics 1998;132(6):939-43.
1998: Olaf Hiort; Paul-Martin Holterhus; EM Nitsche
Physiology and pathophysiology of androgen action.
Baillière's clinical endocrinology and metabolism 1998;12(1):115-32.
1998: Gerhard Aumüller; Paul-Martin Holterhus; Lutz Konrad; B von Rahden; O Hiort; M Esquenet; Guido Verhoeven
Immunohistochemistry and in situ hybridization of the androgen receptor in the developing human prostate.
Anatomy and embryology 1998;197(3):199-208.
1997: Paul-Martin Holterhus; Hennie T Brüggenwirth; Olaf Hiort; A Kleinkauf-Houcken; K Kruse; G H G Sinnecker; Albert O Brinkmann
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
The Journal of clinical endocrinology and metabolism 1997;82(11):3584-9.
1997: G H G Sinnecker; Olaf Hiort; EM Nitsche; Paul-Martin Holterhus; K Kruse
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group.
European journal of pediatrics 1997;156(1):7-14.
1996: Olaf Hiort; G H G Sinnecker; Paul-Martin Holterhus; EM Nitsche; K Kruse
The clinical and molecular spectrum of androgen insensitivity syndromes.
American journal of medical genetics 1996;63(1):218-22.