F. Riepe

发表

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

B. Karges, B. Kırel, B. Hauffa, 2013, European journal of endocrinology.

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.

M. Gribaa, A. Saâd, P. Holterhus, 2012, General and comparative endocrinology.

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

S. Rivkees, D. Poppas, P. White, 2010, International journal of pediatric endocrinology.

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.

J. Grötzinger, O. Hiort, W. Sippell, 2008, The Journal of clinical endocrinology and metabolism.

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.

V. Prassolov, J. Grötzinger, W. Sippell, 2006, The Journal of clinical endocrinology and metabolism.

Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life.

N. Krone, C. Partsch, F. Riepe, 2004, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

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.

M. de Castro, F. Fernandes-Rosa, A. Latronico, 2006, The Journal of clinical endocrinology and metabolism.

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

O. Hiort, N. Krone, W. Arlt, 2014, Sexual Development.

Novel Insights from Clinical Practice

M. Wabitsch, M. Hartmann, S. Wudy, 2019 .

Treatment of Pubertal Gynecomastia with the Specific Aromatase Inhibitor Anastrozole

W. Sippell, N. Krone, C. Partsch, 2004, Hormone Research in Paediatrics.

Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation

S. Bens, R. Siebert, J. Martín-Subero, 2011, Sexual Development.

Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data

P. Holterhus, M. Welzel, F. Riepe, 2013, Hormone Research in Paediatrics.

Principles and clinical applications of liquid chromatography — tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones

P. Holterhus, M. Welzel, F. Riepe, 2011, Journal of endocrinological investigation.

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.

O. Hiort, P. Holterhus, D. Melchior, 2010, The Journal of clinical endocrinology and metabolism.

Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families

P. Holterhus, F. Riepe, 2007, American Journal of Nephrology.

Clinical and Molecular Features of Type 1 Pseudohypoaldosteronism

F. Riepe, 2009, Hormone Research in Paediatrics.

Molecular pathogenesis of renal pseudohypoaldosteronism type 1

F. Riepe, 2007, Expert review of endocrinology & metabolism.

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.

M. Ludwig, W. Sippell, N. Krone, 2003, The Journal of clinical endocrinology and metabolism.

Congenital Adrenal Hyperplasia: The Molecular Basis of 21-Hydroxylase Deficiency in H-2aw18 Mice

W. Sippell, N. Krone, J. Pleiss, 2005 .

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

J. Grötzinger, H. Schwarz, W. Sippell, 2009, The Journal of clinical endocrinology and metabolism.

Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)

J. Grötzinger, H. Schwarz, W. Sippell, 2009, Hormone Research in Paediatrics.

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.

O. Hiort, W. Sippell, N. Krone, 2005, European journal of endocrinology.

Special feature: picture of the month. Infantile scurvy.

W. Tunnessen, F. Riepe, H. J. Schmitt, 2001, Archives of pediatrics & adolescent medicine.

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.

J. Achermann, O. Hiort, P. Holterhus, 2005, The Journal of clinical endocrinology and metabolism.

17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension

F. Keleştimur, Z. Karaca, F. Tanrıverdi, 2014 .

Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia.

A. Alikaşifoğlu, N. Kandemir, F. Riepe, 2010, The Turkish journal of pediatrics.

Differentiation of single populations in a bidirectional mixed lymphocyte culture using X and Y chromosome-specific FiSH markers.

F. Louwen, H. Garritsen, F. Riepe, 2002, Journal of immunological methods.

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co‐expression system

F. Domínguez, J. Grötzinger, W. Sippell, 2009, Human mutation.

Serum Cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapy

J. Dötsch, H. Dörr, W. Sippell, 2005, Journal of endocrinological investigation.

Hashimoto encephalopathy in a 15-year-old-girl: EEG findings and follow-up.

U. Stephani, H. Muhle, A. van Baalen, 2009, Pediatric neurology.

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.

M. Gribaa, A. Saâd, E. Clauser, 2012, Gene.

Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism

P. Holterhus, H. Wenck, F. Riepe, 2012, Dermato-endocrinology.

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].

O. Hiort, R. Fölster-Holst, J. Brasch, 2006, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Characterization of NCI-H295R Cells as an In Vitro Model of Hyperaldosteronism

F. Beuschlein, U. Lichtenauer, I. Shapiro, 2012, Hormone and Metabolic Research.

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.

M. Peter, N. Krone, C. Partsch, 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

Aldosterone synthase deficiency type II with hypospadias.

Z. Gucev, V. Tasic, N. Pop-Jordanova, 2012, Indian pediatrics.

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.

W. Sippell, M. Peter, N. Krone, 2004, The Journal of clinical endocrinology and metabolism.

Revealing a subclinical salt‐losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

L. Schild, G. Theintz, F. Cachat, 2009, Clinical endocrinology.

Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

P. Donohoue, M. Fassnacht, L. Dunkel, 2005, The Journal of clinical endocrinology and metabolism.

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

J. Brooks, J. Demeter, L. Wünsch, 2007, BMC Genomics.

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

S. Bens, I. Leuschner, A. Mohn, 2010, The Journal of clinical endocrinology and metabolism.

The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

J. Grötzinger, A. Topaloğlu, E. Mengen, 2013, Hormone Research in Paediatrics.

Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

W. Sippell, F. Riepe, 2007, Reviews in Endocrine and Metabolic Disorders.

Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

S. Bens, A. Haake, W. Sippell, 2012, Hormone Research in Paediatrics.

Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.

H. Dörr, E. Schönau, R. Holl, 2016, American journal of hypertension.

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.

F. Keleştimur, S. Kurtoğlu, J. Grötzinger, 2014, European journal of endocrinology.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

J. Grötzinger, P. Holterhus, F. Riepe, 2014, European Journal of Human Genetics.

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

P. Clayton, H. Dörr, J. Grötzinger, 2008, The Journal of clinical endocrinology and metabolism.

Critical Points in the Management of Pseudohypoaldosteronism Type 1

A. Say, T. Güran, F. Riepe, 2011, Journal of clinical research in pediatric endocrinology.

A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS

M. Peter, J. Sander, F. Riepe, 2008, Hormone Research in Paediatrics.

Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation

S. Bens, R. Siebert, B. Korn, 2013, PloS one.

Frequency and characterization of DNA methylation defects in children born SGA

S. Bens, R. Siebert, J. Richter, 2012, European Journal of Human Genetics.

17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene

R. Schild, J. Grötzinger, S. Heger, 2014, Hormone Research in Paediatrics.

CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency

M. Kuo, Shang-Jyh Hwang, H. Chen, 2011, PloS one.

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

H. Dörr, E. Schönau, R. Holl, 2019, Endocrine connections.

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Nils Krone, J. Grötzinger, W. Sippell, 2005, The Journal of clinical endocrinology and metabolism.

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

J. Brooks, R. Siebert, J. Demeter, 2009, BMC Genomics.

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.

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.

N. Krone, C. Partsch, F. Riepe, 2006, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Management of Congenital Adrenal Hyperplasia: Results of the ESPE Questionnaire

W. Sippell, N. Krone, C. Partsch, 2002, Hormone Research in Paediatrics.

Basal and ACTH-stimulated plasma concentrations of 11 steroid hormones using LC-MSMS: Implications for detecting heterozygote CYP21A2 mutation carriers

J. Hedderich, P. Holterhus, F. Riepe, 2015 .

LC – MS / MS based determination of basal-and ACTH-stimulated plasma concentrations of 11 steroid hormones : implications for detecting heterozygote CYP 21 A 2 mutation carriers

J. Hedderich, P. Holterhus, F. Riepe, 2015 .

Steroid hormone profiles in prepubertal obese children before and after weight loss.

T. Reinehr, P. Holterhus, M. Welzel, 2013, The Journal of clinical endocrinology and metabolism.

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.

Nils Krone, J. Grötzinger, W. Sippell, 2005, The Journal of clinical endocrinology and metabolism.

Long-Term Follow-Up of Spontaneous Development in a Boy with Familial Male Precocious Puberty

W. Sippell, J. Gromoll, N. Krone, 2004, Hormone Research in Paediatrics.

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.

J. Drouin, C. Deal, A. Pulichino, 2003, Genes & development.

Rare Missense P450c17 (CYP17A1) Mutation in Exon 1 as a Cause of 46,XY Disorder of Sexual Development: Implications of Breast Tissue ‘Unresponsiveness' despite Adequate Estradiol Substitution

G. Stalla, M. Auer, F. Riepe, 2013, Sexual Development.

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

H. Dörr, J. Weigel, W. Sippell, 2005, Human mutation.

Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

N. Krone, J. Brämswig, C. Partsch, 2006, Experimental and clinical endocrinology & diabetes.

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.

J. Grötzinger, W. Sippell, N. Krone, 2006, The Journal of clinical endocrinology and metabolism.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

J. Grötzinger, P. Holterhus, F. Riepe, 2013, European Journal of Human Genetics.

Serum Concentrations of Adrenal Steroids and Their Precursors as a Measure of Maturity of Adrenocortical Function in Very Premature Newborns

R. Voutilainen, Päivi Nykänen, W. Sippell, 2010, Hormone Research in Paediatrics.

Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing

U. Steuerwald, S. Heger, M. Peter, 2012, Hormone Research in Paediatrics.

LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers.

J. Hedderich, P. Holterhus, F. Riepe, 2015, European journal of endocrinology.

Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

H. Merz, O. Hiort, S. Bertelloni, 2012, Sexual Development.

Predicting the Optimal Basal Insulin Infusion Pattern in Children and Adolescents on Insulin Pumps

T. Kapellen, J. Bokelmann, B. Heidtmann, 2013, Diabetes Care.

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

G. Fejes-Tóth, J. Grötzinger, B. Karges, 2006, The Journal of clinical endocrinology and metabolism.

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.

W. Sippell, N. Krone, J. Pleiss, 2005, Endocrinology.

In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans

S. Bens, R. Siebert, T. Eggermann, 2015, PloS one.

Disproportionate stature but normal height in hypochondroplasia

W. Sippell, N. Krone, F. Riepe, 2005, European Journal of Pediatrics.

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome

J. Demeter, M. Appari, L. Wünsch, 2009, Journal of Molecular Medicine.

Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test.

M. Appari, P. Holterhus, N. Bramswig, 2011, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Longitudinal study of plasma pregnenolone and 17-hydroxypregnenolone in full-term and preterm neonates at birth and during the early neonatal period.

W. Sippell, C. Partsch, F. Riepe, 2002, The Journal of clinical endocrinology and metabolism.

Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay.

C. Partsch, F. Riepe, W. Sippell, 2001, Journal of chromatography. B, Biomedical sciences and applications.

Adrenal and Ovarian Phenotype of a Tissue-Specific Urocortin 2-Overexpressing Mouse Model.

J. Deussing, F. Beuschlein, K. Mueller-Peltzer, 2015, Endocrinology.

Extreme Hyponatremia in an Infant with Congenital Adrenal Hypoplasia due to a Novel NR0B1 (DAX-1) Mutation

H. Schwarz, N. Krone, M. Grasser, 2008, Klinische Pädiatrie.

Edinburgh Research Explorer Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

S. Rivkees, D. Poppas, P. White, 2022 .

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.

F. Baronio, W. Sippell, F. Riepe, 2007, European journal of endocrinology.

Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene

A. Yu, W. Sippell, F. Riepe, 2004, American Journal of Nephrology.

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)

J. Grötzinger, H. Schwarz, W. Sippell, 2009, Hormone Research in Paediatrics.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

J. Grötzinger, P. Holterhus, F. Riepe, 2014, European Journal of Human Genetics.

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

J. Grötzinger, W. Sippell, N. Krone, 2005, Journal of Molecular Medicine.

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

F. Louwen, E. Harms, H. Garritsen, 2003, American journal of reproductive immunology.

Congenital rubella syndrome

S. Lalani, K. Chayama, A. Cleare, 2020, Definitions.

Congenital dysfibrinogenemia.

S. Lalani, K. Chayama, A. Cleare, 1984, Current problems in clinical biochemistry.

Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.

H. Dörr, E. Schönau, R. Holl, 2016, American journal of hypertension.

Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

J. Dötsch, J. Lenders, S. Krüger, 2006, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

S. Bens, I. Leuschner, A. Mohn, 2010, The Journal of clinical endocrinology and metabolism.

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

P. Clayton, H. Dörr, J. Grötzinger, 2008, The Journal of clinical endocrinology and metabolism.

Rare Missense P450c17 (CYP17A1) Mutation in Exon 1 as a Cause of 46,XY Disorder of Sexual Development: Implications of Breast Tissue ‘Unresponsiveness' despite Adequate Estradiol Substitution

F. Riepe, Günter K. Stalla, Ap Athanasoulia, 2013, Sexual Development.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

S. Lalani, K. Chayama, M. Vikkula, 1999, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines

F. Riepe, 2011, Nature Reviews Endocrinology.