M. Peter

发表

New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

M. Forest, J. Simard, J. Chaussain, 1999, The Journal of clinical endocrinology and metabolism.

A higher rate of hyperandrogenic disorders in female-to-male transsexuals

W. Sippell, M. Peter, G. Bonatz, 1997, Psychoneuroendocrinology.

Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination

W. Sippell, M. Peter, E. Westphal, 1990, The Lancet.

Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.

B. Ure, M. Bergmann, O. Hiort, 1999, The Journal of clinical endocrinology and metabolism.

Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography–tandem mass spectrometry

U. Steuerwald, A. Das, M. Peter, 2011, Steroids.

Relevance of major histocompatibility complex class II expression as a hallmark for the cellular differentiation in the human adrenal cortex.

W. Scherbaum, S. Bornstein, W. Sippell, 1997, The Journal of clinical endocrinology and metabolism.

Serum Leptin Levels in Patients with Progressive Central Precocious Puberty1

W. Kiess, W. Blum, S. Heger, 1999, Pediatric Research.

Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies

W. Sippell, M. Peter, J. Dubuis, 1999, Hormone Research in Paediatrics.

Variability of pulsatile luteinizing hormone secretion in young male volunteers.

J. Veldhuis, M. Peter, C. Partsch, 1994, European journal of endocrinology.

Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns.

F. Schreiner, M. Peter, J. Woelfle, 2009, European journal of endocrinology.

UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.

U. Steuerwald, M. Peter, J. Sander, 2013, Clinica chimica acta; international journal of clinical chemistry.

Diagnosis and treatment of 17-hydroxylase deficiency

W. Sippell, M. Peter, H. Wernze, 1993, The Journal of Steroid Biochemistry and Molecular Biology.

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.

E. Mayatepek, U. Steuerwald, A. Das, 2006, Clinical chemistry.

Neonatal screening for defects of the mitochondrial trifunctional protein.

R. Wanders, U. Steuerwald, A. Das, 2005, Molecular genetics and metabolism.

Anthropometrical Measurements and Androgen Levels in Males, Females, and Hormonally Untreated Female-To-Male Transsexuals

W. Sippell, M. Peter, R. Arndt, 1997, Archives of sexual behavior.

Evidence for Change of 11β-Hydroxysteroid Dehydrogenase Activity during Infancy and Childhood

J. Dötsch, H. Dörr, W. Sippell, 2000, Pediatric Research.

17α-Hydroxylase/17,20-Lyase Deficiency Due to Novel Compound Heterozygote Mutations: Treatment for Tall Stature in a Female with Male Pseudohermaphroditism and Spontaneous Puberty in her Affected Sister

J. Simard, K. Schwab, A. Moisan, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

Fast and direct quantification of adrenal steroids by tandem mass spectrometry in serum and dried blood spots.

M. Peter, J. Sander, M. Terhardt, 2008, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Aldosterone Synthase Deficiency

W. Sippell, M. Peter, 2001 .

Defects in Aldosterone Biosynthesis

W. Sippell, M. Peter, 2000 .

Clinical, Hormonal and Molecular Genetic Characterization of Hungarian Patients with 11β-Hydroxylase Deficiency

K. Rácz, J. Sólyom, W. Sippell, 2001 .

A New Insight Into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency

J. Simard, A. Moisan, M. Ricketts, 2000, Endocrine research.

Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.

W. Sippell, M. Peter, J. López-Siguero, 2001, The Journal of clinical endocrinology and metabolism.

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

A. Braun, A. Roscher, W. Sippell, 2002, Clinical chemistry.

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.

Congenital Adrenal Hyperplasia: 11β-Hydroxylase Deficiency

M. Peter, 2002 .

Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

A. Das, M. Peter, T. Lücke, 2014, Clinica chimica acta; international journal of clinical chemistry.

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.

Congenital Hypoaldosteronism: The Visser-Cost Syndrome Revisited

W. Sippell, M. Peter, 1996, Pediatric Research.

Multisteroid analysis in children with terminal aldosterone biosynthesis defects.

W. Sippell, M. Peter, C. Partsch, 1995, The Journal of clinical endocrinology and metabolism.

Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma

M. Lakomek, M. Peter, D. Steinberger, 2000, European Journal of Pediatrics.

Prenatal diagnosis of congenital adrenal hypoplasia.

H. Dörr, W. Sippell, M. Peter, 1996, Hormone research.

EDTA in dried blood spots leads to false results in neonatal endocrinologic screening.

U. Steuerwald, M. Peter, J. Sander, 2008, Clinical chemistry.

Congenital Adrenal Hypoplasia

W. Sippell, M. Peter, 2001 .

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.

Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

W. Sippell, M. Peter, C. Partsch, 1998, The Journal of clinical endocrinology and metabolism.

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.

Serum leptin levels in patients with progressive central precocious puberty.

W. Kiess, W. Blum, S. Heger, 1999, Pediatric research.

Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum[S]

J. Sass, A. Das, M. Peter, 2010, Journal of Lipid Research.

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt

W. Sippell, M. Peter, M. Essawi, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Application of a second-tier newborn screening assay for c5 isoforms.

U. Steuerwald, M. Peter, N. Janzen, 2014, JIMD reports.

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.

Rapid diagnosis of hypoglycin A intoxication in atypical myopathy of horses

M. Peter, A. Zeyner, J. Sander, 2016, Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc.

Hyporeninaemic hypoaldosteronism after growth hormone treatment

W. Sippell, M. Peter, H. Mönig, 1996, The Lancet.

[Newborn metabolic screening].

E. Kattner, M. Peter, J. Sander, 2008, Zeitschrift fur Geburtshilfe und Neonatologie.

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

A. Das, M. Peter, J. Sander, 2011, Clinica chimica acta; international journal of clinical chemistry.

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

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

Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry.

U. Steuerwald, M. Peter, J. Sander, 2007, The Journal of clinical endocrinology and metabolism.

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

R. Kofler, S. Geley, P. White, 1996, The Journal of clinical endocrinology and metabolism.

Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.

W. Sippell, M. Peter, S. Drop, 1998, European journal of endocrinology.

Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficiency of a family with the R448H mutation in the CYP11B1 gene.

W. Sippell, M. Peter, 1997, The Journal of clinical endocrinology and metabolism.

X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients.

T. Strom, H. Wollmann, G. Binder, 2000, Clinical endocrinology.

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

K. Borucki, M. Peter, K. Mohnike, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Aldosterone Synthase Deficiency Type I: Hormonal and Genetic Analyses of Two Cases

W. Sippell, M. Peter, J. López-Siguero, 2000, Hormone Research in Paediatrics.

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.

W. Sippell, M. Peter, L. Fawaz, 1997, The Journal of clinical endocrinology and metabolism.

Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.

R. Kofler, S. Geley, W. Sippell, 1995, The Journal of clinical endocrinology and metabolism.

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

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

Carnitine‐palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

W. Wuyts, R. Wanders, J. Ruiter, 2008, American journal of medical genetics. Part A.

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.

Clinical deterioration after cessation of growth hormone replacement therapy in a young adult with severe growth hormone deficiency.

M. Peter, C. Partsch, T. Arendt, 1998, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Comparison of complete and incomplete suppression of pituitary-gonadal activity in girls with central precocious puberty: influence on growth and predicted final height. The German-Dutch Precocious Puberty Study Group.

R. Odink, W. Sippell, M. Peter, 1993, Hormone research.

Impairment of 11β-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'

B. Allolio, M. Reincke, W. Sippell, 1997 .

Birthweight Differences in Monozygotic Twins Influence Pubertal Maturation and Near Final Height.

B. Stoffel‐Wagner, F. Schreiner, M. Peter, 2016, The Journal of pediatrics.

Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.

M. Peter, 2002, Seminars in reproductive medicine.

Follow up of growth and steroids in premature adrenarche

R. Voutilainen, J. Perheentupa, A. Pere, 1995, European Journal of Pediatrics.

Homozygous Deletion of Arginine-173 in the CYP11B2 Gene in a Girl with Congenital Hypoaldosteronism

W. Sippell, M. Peter, K. Kapelari, 1998, Hormone Research in Paediatrics.

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II

W. Sippell, M. Peter, K. Bünger, 1998, European Journal of Pediatrics.