Riepe, Felix ; Holterhus, Paul-Martin:
Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families.
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In: Am J Nephrol. 27 (2007), Nr. 2, S. 164-169
Riepe, Felix ; Krone, Nils ; Kruger SN ; Sweep FC ; Lenders JW ; Dotsch J ; Mönig, Heiner ; Sippell, Wolfgang ; Partsch CJ:
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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In: Exp Clin Endocrinol Diabetes 114 (2006), Nr. 3, S. 105-10
Krone, Nils ; Grischuk Y ; Rubin, Marina ; Rehberg, Volker ; Grotzinger J ; Holterhus, Paul-Martin ; Sippell, Wolfgang ; Riepe, Felix:
Analyzing the functional and structural consequences of two point mutations (P94L, A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia (CAH) due to 11-hydroxylase deficiency.
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In: J Clin Endocrinol Metab 91 (2006), Nr. 7, S. 1268-8
Fölster-Holst, Regina ; Riepe, Felix ; Ahrens W ; Möller, Maike ; Brasch, Jochen ; Partsch, Carl-Joachim ; Hiort O ; Sippell, Wolfgang:
Calcinosis cutis bei hereditärer Albright-Osteodystrophie = [Calcinosis cutis in Albright hereditary osteodystrophy Pseudohypoparathyroidism Type Ia.]
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In: Hautarzt 57 (2006), Nr. 10, S. 893-897
Riepe, Felix ; Finkeldei J ; de Sanctis L ; Einaudi S ; Testa A ; Karges B ; Peter, M ; Viemann, Matthias ; Grötzinger, Joachim ; Sippell, Wolfgang ; Fejes-Toth G ; Krone N:
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
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In: J Clin Endocrinol Metab 91 (2006), Nr. 11, S. 4552-61
Grischuk Y ; Rubtsov P ; Riepe, Felix ; Grotzinger J ; Beljelarskaia S ; Prassolov V ; Kalintchenko N ; Semitcheva T ; Peterkova V ; Tiulpakov A ; Sippell, Wolfgang ; Krone N:
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia (CAH): identification, functional characterization and structural analysis
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In: J Clin Endocrinol Metab 91 (2006), Nr. 12, S. 4976-80
Partsch, Carl-Joachim ; Riepe, Felix ; Krone N ; Sippell, Wolfgang ; Pohlenz J:
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature
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In: Exp Clin Endocrinol Diabetes 114 (2006), Nr. 5, S. 227-34
Fernandes-Rosa FL ; de Castro M ; Latronico AC ; Sippell, Wolfgang ; Riepe, Felix ; Antonini SR:
Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene.
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In: J Clin Endocrinol Metab 91 (2006), Nr. 9, S. 3671-5
Krone, Nils ; Riepe, Felix ; Partsch CJ ; Vorhoff W ; Bramswig J ; Sippell, Wolfgang:
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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In: Exp Clin Endocrinol Diabetes 114 (2006), Nr. 3, S. 111-7
Krone, Nils ; Riepe, Felix ; Götze D ; Korsch E ; Rister M ; Commentz J ; Partsch, Carl-Joachim ; Grötzinger, Joachim ; Peter M ; Sippell, Wolfgang:
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene
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In: J Clin Endocrinol Metab 90 (2005), Nr. 6, S. 3724
Riepe, Felix ; Tatzel S ; Sippell, Wolfgang ; Pleiss J ; Krone, Nils:
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice
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In: Endocrinology 146 (2005), Nr. 6, S. 2563-2574
Vallette-Kasic S ; Brue T ; Pulichino AM ; Gueydan M ; Barlier A ; David M ; Nicolino M ; Malpuech G ; Dechelotte P ; Deal C ; Van Vliet G ; De Vroede M ; Riepe, Felix ; Partsch, Carl-Joachim ; Sippell, Wolfgang ; Berberoglu M ; Atasay B ; de Zegher F ; Beckers D ; Kyllo J ; Donohoue P ; Fassnacht M ; Allolio B ; Noordam C ; Dunkel L ; Hero M ; Pigeon B ; Pigeon B ; Weill J ; Yigit S ; Brauner R ; Cummings E ; Riddell C ; Enjalbert A ; Drouin J:
CONGENITAL ISOLATED ACTH DEFICIENCY, AN UNDERESTIMATED CAUSE OF NEONATAL DEATH, EXPLAINED BY TPIT MUTATIONS
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In: J Clin Endocrinol Metab. 2004 Dec 21; 90 (2005), Nr. 3, S. 1323-31
Riepe, Felix ; Krone, Nils ; Sippell, Wolfgang:
Disproportionate stature but normal height in hypochondroplasia
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In: European Journal of Pediatrics 164 (2005), Nr. 6, S. 397-9
Stichwörter:
Signatur 12/2005
Riepe, Felix ; Ahrens W ; Krone, Nils ; Fölster-Holst, Regina ; Brasch J ; Sippell, Wolfgang ; Hiort O ; Partsch, Carl-Joachim:
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene
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In: Eur J Endocrinol 152 (2005), Nr. 4, S. 515-519
Krone, Nils ; Riepe, Felix ; Grotzinger J ; Partsch CJ ; Sippell, Wolfgang:
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
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In: J Clin Endocrinol Metab. 90 (2005), Nr. 1, S. 445-54
Hiort O ; Holterhus PM ; Werner R ; Marschke C ; Hoppe U ; Riepe, Felix ; Partsch, Carl-Joachim ; Achermann JC ; Struve D:
Homozygous disruption of P450scc (CYP11A1) is associated with prematurity, complete 46,XY sex reversal and severe adrenal failure.
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In: J Clin Endocrinol Metab. 90 (2005), Nr. 538, S. 541
Dotsch J ; Hohenberger I ; Riepe, Felix ; Sippell, Wolfgang ; Dorr HG:
Serum cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapy.
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In: J Endocrinol Invest. 28 (2005), Nr. 5, S. 413-6
Krone, Nils ; Riepe, Felix ; Grötzinger, Joachim ; Partsch, Carl-Joachim ; Bramswig J ; Sippell, Wolfgang:
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions
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In: J Mol Med. 83 (2005), Nr. 7, S. 561-568
Krone, Nils ; Riepe, Felix ; Dorr HG ; Morlot M ; Rudorff KH ; Drop SL ; Weigel J ; Pura M ; Kreze A ; Boronat M ; de Luca F ; Tiulpakov A ; Partsch CJ ; Peter M ; Sippell, Wolfgang:
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita
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In: Hum Mutat. 255 (2005), Nr. 5, S. 502-3
Vallette-Kasic S ; Pulichino AM ; Gueydan M ; Barlier A ; David M ; Malpuech G ; Deal C ; Van Vliet G ; de Vroede M ; Riepe, Felix ; Partsch CJ ; Sippell, Wolfgang ; Berberoglu M ; Atasay B ; de Zegher F ; Kyllo J ; Donohoue P ; Dechelotte P ; Fassnacht M ; Noordam K ; Dunkel L ; Pigeon B ; Weill J ; Yigit S ; Brauner R ; Leger J ; Heinrich JJ ; Enjalbert A ; Brue T ; Drouin J:
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
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In: Endocr Res. 30 (2004), Nr. 4, S. 943-4
Riepe, Felix ; Krone, Nils ; Morlot M ; Peter M ; Sippell, Wolfgang ; Partsch, Carl-Joachim:
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.
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In: J Clin Endocrinol Metab. 89 (2004), Nr. 5, S. 2150-2
Kruse, Björn ; Riepe, Felix ; Krone, Nils ; Bosinski HA ; Kloehn, Sievert ; Partsch, Carl-Joachim ; Sippell, Wolfgang ; Mönig, Heiner:
Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life.
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In: Exp Clin Endocrinol Diabetes 112 (2004), Nr. 7, S. 343-355
Huey CL ; Riepe, Felix ; Sippell, Wolfgang ; Yu AS:
Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene.
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In: Am J Nephrol. 24 (2004), Nr. 5, S. 483-7
Partsch, Carl-Joachim ; Krone, Nils ; Riepe, Felix ; Gromoll J ; Sippell, Wolfgang:
Long-term follow-up of spontaneous development in a boy with familial male precocious puberty.
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In: Horm Res. 62 (2004), Nr. 4, S. 177-81
Brune T ; Hornung T ; Koch HG ; Riepe, Felix ; Louwen F:
The increased lysis of fetal cells in the mother after pregnancies complicated by pre-eclampsia or HELLP syndrome is not the result of a specific anti-fetal cytotoxicity of the mother
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In: Am J Reprod Immunol. 51 (2004), Nr. 2, S. 174-179
Riepe, Felix ; Baus, Inka ; Wiest S ; Krone, Nils ; Sippell, Wolfgang ; Partsch, Carl-Joachim:
Treatment of Pubertal Gynecomastia with the Specific Aromatase Inhibitor Anastrozole.
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In: Hormone Research 62 (2004), Nr. 3, S. 113-118
Riepe, Felix ; Krone, Nils ; Peter, M ; Sippell, Wolfgang ; Partsch, Carl-Joachim:
Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency.
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In: J Chromatogr B Analyt Technol Biomed Life Sci 5 (2003), Nr. 2, S. 293-301
Stichwörter:
Signatur 3/2003
Pulichino AM ; Vallette-Kasic S ; Couture C ; Gauthier Y ; Brue T ; David M ; Malpuech G ; Deal C ; Van Vliet G ; De Vroede M ; Riepe, Felix ; Partsch, Carl-Joachim ; Sippell, Wolfgang ; Berberoglu M ; Atasay B ; Drouin J:
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
.
In: Genes Dev 17 (2003), Nr. 6, S. 711-6
Riepe, Felix ; Krone, Nils ; Morlot M ; Ludwig M ; Sippell, Wolfgang ; Partsch, Carl-Joachim:
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.
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In: J Clin Endocrinol Metab 88 (2003), Nr. 4, S. 1683-6
Stichwörter:
Signatur 8/2003
Brune T ; Riepe, Felix ; Garritsen H ; Exeler R ; Louwen F ; Harms E:
The cellular immune response of children is specifically decreased against their parents but not vice versa, independent of pregnancy, age, or HLA or HY antigens
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In: Am J Reprod Immunol 49 (2003), Nr. 5, S. 255-260
Brune, T ; Riepe, Felix ; Beier, K ; Exeler, R ; Louwen, F ; Garritsen, H:
Differentiation of single populations in a bidirectional mixed lymphocyte culture using X and Y chromosome-specific FiSH markers.
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In: J Immunol Methods 266 (2002), Nr. 1-2, S. 105-10
Riepe, Felix ; Mahler, P ; Sippell, Wolfgang ; Partsch, Carl-Joachim:
Longitudinal study of plasma pregnenolone and 17-hydroxypregnenolone in full-term and preterm neonates at birth and during the early neonatal period.
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In: The Journal of clinical endocrinology and metabolism. 87 (2002), Nr. 9, S. 4301-6
Stichwörter:
Signatur 17/2002
Riepe, Felix ; Krone, Nils ; Viemann, Matthias ; Partsch, Carl-Joachim ; Sippell, Wolfgang:
Management of congenital adrenal hyperplasia: results of the ESPE questionnaire.
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In: Hormone research. 58 (2002), Nr. 4, S. 196-205
Stichwörter:
Signatur 18/2002
Riepe, Felix ; Wonka, S ; Partsch, Carl-Joachim ; Sippell, Wolfgang:
Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay.
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In: Journal of chromatography. B, Biomedical sciences and applications. 763 (2001), Nr. 1-2, S. 99-106
Riepe, Felix ; Partsch, Carl-Joachim ; Blankenstein, O ; Monig, H ; Pfaffle, R W ; Sippell, Wolfgang:
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
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In: The Journal of clinical endocrinology and metabolism. 86 (2001), Nr. 9, S. 4353-7
Riepe, Felix ; Eichmann, D ; Oppermann, HC ; Schmitt, HJ ; Tunnessen, WW Jr:
Special feature: picture of the month. Infantile scurvy.
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In: Arch Pediatr Adolesc Med 155 (2001), Nr. 5, S. 607-8
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