U. Kuhnle

发表

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

G. Cote, R. Gagel, N. Wohllk, 1996, American journal of human genetics.

Diagnosis and monitoring of therapy of the various enzymatic defects causing congenital adrenal hyperplasia by semiautomatic capillary gas-liquid chromatography.

F. Bidlingmaier, U. Kuhnle, D. Knorr, 1982, Hormone research.

Pseudohypoaldosteronism: mutation found, problem solved?

U. Kuhnle, 1997, Molecular and Cellular Endocrinology.

Outcome of congenital adrenal hyperplasia

M. Bullinger, U. Kuhnle, 1997, Pediatric Surgery International.

Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First results of a cross-sectional quality-of-life evaluation

M. Bullinger, H. Schwarz, U. Kuhnle, 1993, The Journal of Steroid Biochemistry and Molecular Biology.

Effects of aldosterone on intralymphocytic sodium and potassium in patients with essential hypertension

K. Theisen, M. Wehling, U. Kuhnle, 1989, Klinische Wochenschrift.

Androgen binding sites in peripheral human mononuclear leukocytes of healthy males and females

M. Meurer, D. Armanini, U. Keller, 1994, The Journal of Steroid Biochemistry and Molecular Biology.

Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities

D. Armanini, M. Zennaro, M. Wehling, 1991, The Journal of Steroid Biochemistry and Molecular Biology.

Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects.

D. Armanini, D. Schlamp, C. Schroeter, 1990, The Journal of clinical endocrinology and metabolism.

LACK OF EFFECT OF ALDOSTERONE ON INTRACELLULAR SODIUM AND POTASSIUM IN MONONUCLEAR LEUCOCYTES FROM PATIENTS WITH PSEUDOHYPOALDOSTERONISM

D. Armanini, M. Wehling, P. Weber, 1988, Clinical endocrinology.

A Novel Point Mutation in the Hormone Binding Domain of the Androgen Receptor Associated with Partial and Minimal Androgen Insensitivity Syndrome

O. Hiort, G. Messer, U. Kuhnle, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism

D. Armanini, M. Lombès, M. Zennaro, 2004, Molecular and Cellular Endocrinology.

Aldosterone-receptor deficiency in pseudohypoaldosteronism.

T. Strasser, D. Armanini, J. Funder, 1985, The New England journal of medicine.

Dexamethasone-suppressible hyperaldosteronism: Pathophysiology, clinical aspects, and new insights into the pathogenesis

D. Armanini, M. Boscaro, H. Dörr, 1987, Klinische Wochenschrift.

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

E. Schwinger, G. Hinkel, L. Wu, 1996, American journal of medical genetics.

IS SALT‐WASTING IN CONGENITAL ADRENAL HYPERPLASIA DUE TO THE SAME GENE AS THE FASCICULATA DEFECT?

M. New, E. Stoner, J. Dimartino-Nardi, 1986, Clinical endocrinology.

The 21-hydroxylase activity in the glomerulosa and fasciculata of the adrenal cortex in congenital adrenal hyperplasia.

M. New, R. Rapaport, U. Kuhnle, 1981, The Journal of clinical endocrinology and metabolism.

Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism.

M. Boscaro, N. Sonino, F. Fallo, 1994, The Journal of clinical endocrinology and metabolism.

Dermatitis herpetiformis and growth retardation

M. Meurer, U. Kuhnle, R. Bertele-Harms, 1986, European Journal of Pediatrics.

Aldosterone receptors in different types of primary hyperaldosteronism.

D. Armanini, M. Wehling, P. Weber, 1987, The Journal of clinical endocrinology and metabolism.

Intersexuality and Alternative Gender Categories in Non-Western Cultures

U. Kuhnle, C. Lang, 2008, Hormone Research in Paediatrics.

Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.

F. Bidlingmaier, U. Kuhnle, D. Knorr, 1983, Journal of steroid biochemistry.

Pseudohypoaldosteronism: Evaluation of type I receptors by radioreceptor assay and by antireceptor antibodies

D. Armanini, Z. Krozowski, I. Karbowiak, 1995, Steroids.

Immunofluorescence of mineralocorticoid receptors in peripheral lymphocytes: Presence of receptor-like activity in patients with the autosomal dominant form of pseudohypoaldosteronism, and its absence in the recessive form

D. Armanini, J. Funder, U. Keller, 1994, The Journal of Steroid Biochemistry and Molecular Biology.

Dengue virus infection: epidemiology, pathogenesis, clinical presentation, diagnosis, and prevention.

M. Robinson, U. Kuhnle, I. Kautner, 1997, The Journal of pediatrics.

Pseudohypo-aldosteronism and cholelithiasis: coincidence or pathogenetic correlation?

U. Kuhnle, I. Akkurt, C. Ringenberg, 1997, European Journal of Pediatrics.

Familial pseudohypoaldosteronism: A review on the heterogeneity of the syndrome

G. Hinkel, U. Kuhnle, Z. Krozowski, 1995, Steroids.

INHERITANCE OF MINERALOCORTICOID EFFECTOR ABNORMALITIES OF HUMAN MONONUCLEAR LEUCOCYTES IN FAMILIES WITH PSEUDOHYPOALDOSTERONISM

D. Armanini, M. Wehling, C. Daumer, 1989, Clinical endocrinology.

A Partial Form of Pseudohypoaldosteronism Type I Without Renal Sodium Wasting

U. Wendel, U. Kuhnle, A. Ballauff, 1994, The Journal of pediatric endocrinology.

Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.

J. Seckl, M. Rees, A. Hanukoglu, 1995, The Journal of clinical endocrinology and metabolism.

True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology

A. Braun, U. Kuhnle, G. Krob, 2005, European Journal of Pediatrics.

Endocrine Disorders of Sodium Regulation

P. Fuller, S. Lewicka, U. Kuhnle, 2004, Hormone Research in Paediatrics.

True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.

A. Braun, U. Löhrs, H. Schwarz, 1993, American journal of human genetics.

Testosterone and androstenedione concentrations in human testis and epididymis during the first two years of life.

H. Dörr, W. Eisenmenger, F. Bidlingmaier, 1983, The Journal of clinical endocrinology and metabolism.

True Hermaphroditism in an XY Individual due to a Familial Point Mutation of the SRY Gene

E. Maier, U. Kuhnle, C. Leitner, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

The Impact of Culture on Sex Assignment and Gender Development in Intersex Patients

U. Kuhnle, Wolfgang Krahl, 2002, Perspectives in biology and medicine.

Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences

A. Braun, U. Löhrs, H. Schwarz, 1993, Human Genetics.

True Hermaphroditism: Presentation, Management, Outcome

E. Maier, U. Kuhnle, G. Krob, 2003 .

Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.

H. Dörr, F. Bidlingmaier, G. Wolff, 1984, The Journal of clinical endocrinology and metabolism.

The effects of long-term normalization of sodium balance on linear growth in disorders with aldosterone deficiency.

M. New, A. Rösler, U. Kuhnle, 1983, Acta endocrinologica.

Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

R. Hennekam, S. le Cessie, B. Hamel, 2004, Hormone Research in Paediatrics.

Bilateral Adrenal Cysts and Ectopic Pancreatic Tissue in Beckwith-Wiedemann Syndrome: Is a Conservative Approach Acceptable?

R. Rahmah, U. Kuhnle, Jiang Yong, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

Evidence for the secretion of an antimineralocorticoid in congenital adrenal hyperplasia.

M. Land, U. Kuhnle, S. Ulick, 1986, The Journal of clinical endocrinology and metabolism.

Geographical Endocrinology of Genetic Steroid Disorders

N. Reisch, U. Kuhnle, 2014 .

Etomidate: a selective adrenocortical 11 beta-hydroxylase inhibitor.

H. Dörr, F. Bidlingmaier, H. Holthausen, 1984, Klinische Wochenschrift.

The quality of life in adult female patients with congenital adrenal hyperplasia: A comprehensive study of the impact of genital malformations and chronic disease on female patients life

M. Bullinger, H. Schwarz, U. Kuhnle, 1996, European Journal of Pediatrics.

119 HIGH FREQUENCY OF CLASSICAL 21-HYDROXYLASE DEFICIENCY (CAH) IN MALAYSIA

L. Wu, U. Kuhnle, G. Krob, 1994, Pediatric Research.

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

R. Salomon, D. Armanini, M. Lombès, 2003, Journal of Clinical Endocrinology and Metabolism.

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.

J. Seckl, A. Hanukoglu, Israel Hanukoglu, 1996, Human molecular genetics.

Transient pseudohypoaldosteronism secondary to posterior urethral valves--a case report and review of the literature.

I. Joppich, T. Schuster, U. Kuhnle, 2001, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

Transient pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors. Results in two affected infants.

D. Armanini, G. Guariso, G. Hinkel, 1993, Hormone research.

Etomidate: A selective adrenocortical 11β-hydroxylase inhibitor

H. Dörr, F. Bidlingmaier, H. Holthausen, 1984, Klinische Wochenschrift.

Comparison of Plasma Atrial Natriuretic Peptide Levels in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases1

T. Strom, F. Bidlingmaier, C. Döhlemann, 1986, Pediatric Research.

Rapid occurrence of thelarche and menarche induced by hydrocortisone in a teenage girl with previously untreated congenital adrenal hyperplasia

H. Schwarz, U. Kuhnle, A. Jocham, 1995, European Journal of Pediatrics.

FINAL HEIGHT AND LONG-TERM FOLLOW-UP OF 108 ADULT PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

H. Schwarz, U. Kuhnle, D. Knorr, 1993, Pediatric Research.

Contribution of the adrenal gland to the production of androstenedione and testosterone during the first two years of life.

H. Dörr, W. Eisenmenger, F. Bidlingmaier, 1986, The Journal of clinical endocrinology and metabolism.

Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome

T. Schuster, O. Bartsch, U. Kuhnle, 2000, Pediatric Surgery International.

Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?

F. Bidlingmaier, U. Kuhnle, D. Knorr, 1986, Acta endocrinologica. Supplementum.

Inactivation oftheFirst Nucleotide-Binding FoldoftheSulfonylurea Receptor, andFamilial Persistent Hyperinsulinemic Hypoglycemia ofInfancy

N. Wohllk, W. Rabl, E. Huang, 1996 .

[Epiphysiolysis capitis femoris as a possible complication of hypoparathyroidism in partial Di George syndrome].

U. Kuhnle, H. Schmidt, 1993, Klinische Padiatrie.

117 PRENATAL TREATMENT OF A GIRL WITH 21-HYDROXYLASE DEFICIENCY (CAH)

H. Dörr, F. Bidlingmaier, U. Kuhnle, 1985, Pediatric Research.

Androgen receptors in Klinefelter's syndrome

M. Meurer, U. Keller, U. Kuhnle, 1993, The Lancet.

Gonadotropin regulation during puberty in complete androgen insensitivity syndrome with testicles in situ.

H. Schwarz, U. Kuhnle, D. Knorr, 1994, Hormone research.

Aldosterone Receptors and Effector Mechanisms in Mononuclear Leukocytes in Different Forms of Hypertension

P. Weber, D. Armanini, M. Zennaro, 1991 .

Parallel determination of mineralocorticoid and glucocorticoid receptors in T- and B-lymphocytes of human spleen.

D. Armanini, S. Endres, P. Weber, 1988, Acta endocrinologica.

Impaired rapid mineralocorticoid action on free intracellular calcium in pseudohypoaldosteronism.

F. Gamarra, R. Huber, M. Wehling, 1997, The Journal of clinical endocrinology and metabolism.