| PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. Linglart A., Fryssira H., Hiort O., Holterhus P.M., Perez de Nanclares G., Argente J., Heinrichs C., Kuechler A., Mantovani G., Leheup B. et al.
J. Clin. Endocrinol. Metab. 97:E2328-38(2012) · Mapped (8) |
| Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms. Ben Charfeddine I., Riepe F.G., Clauser E., Ayedi A., Makni S., Sfar M.T., Sboui H., Kahloul N., Ben Hamouda H., Chouchane S. et al.
Gene 507:20-26(2012) · Mapped (34) |
| Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia. Barbaro M., Bens S., Haake A., Peter M., Bramswig J., Holterhus P.M., Lopez-Siguero J.P., Menken U., Mix M., Sippell W.G. et al.
Horm Res Paediatr 77:100-107(2012) · Mapped (3) |
| CYP17A1 intron mutation causing cryptic splicing in 17alpha-hydroxylase deficiency. Hwang D.Y., Hung C.C., Riepe F.G., Auchus R.J., Kulle A.E., Holterhus P.M., Chao M.C., Kuo M.C., Hwang S.J., Chen H.C.
PLoS ONE 6:e25492-e25492(2011) · Mapped (3) |
| Androgen receptor mutations are associated with altered epigenomic programming as evidenced by HOXA5 methylation. Bens S., Ammerpohl O., Martin-Subero J.I., Appari M., Richter J., Hiort O., Werner R., Riepe F.G., Siebert R., Holterhus P.M.
Sex Dev 5:70-76(2011) · Mapped (13) |
| No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency. Welzel M., Schwarz H.P., Hedderich J., Dorr H.G., Binder G., Bramswig J.H., Krude H., Richter-Unruh A., Niedziela M., Gromoll J. et al.
J. Clin. Endocrinol. Metab. 95:2443-2450(2010) · Mapped (45) |
| Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). Krone N., Grotzinger J., Holterhus P.M., Sippell W.G., Schwarz H.P., Riepe F.G.
Horm. Res. 72:281-286(2009) · Mapped (7) |
| Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate. Jochumsen U., Werner R., Miura N., Richter-Unruh A., Hiort O., Holterhus P.M.
Sex Dev 2:302-308(2008) · Mapped (1) |
| Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Riepe F.G., van Bemmelen M.X., Cachat F., Plendl H., Gautschi I., Krone N., Holterhus P.M., Theintz G., Schild L.
Clin. Endocrinol. (Oxf) 70:252-258(2009) · Mapped (5) |
| 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. Riepe F.G., Hiort O., Grotzinger J., Sippell W.G., Krone N., Holterhus P.M.
J. Clin. Endocrinol. Metab. 93:2891-2895(2008) · UniProtKB (1) · Mapped (33) |
| Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. Welzel M., Wustemann N., Simic-Schleicher G., Dorr H.G., Schulze E., Shaikh G., Clayton P., Grotzinger J., Holterhus P.M., Riepe F.G.
J. Clin. Endocrinol. Metab. 93:1418-1425(2008) · UniProtKB (1) · Mapped (2) |
| Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. Riepe F.G., Holterhus P.M.
Am. J. Nephrol. 27:164-169(2007) · Mapped (5) |
| 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. Thiele S., Hoppe U., Holterhus P.M., Hiort O.
Eur. J. Endocrinol. 152:875-880(2005) · Mapped (3) |
| A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency. Hiort O., Schutt S.M., Bals-Pratsch M., Holterhus P.M., Marschke C., Struve D.
Int. J. Androl. 25:55-58(2002) · Mapped (1) |
| Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T., Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.
Pediatr. Res. 46:684-690(1999) · UniProtKB (1) |
| Inherited and de novo androgen receptor gene mutations: investigation of single-case families. Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
J. Pediatr. 132:939-943(1998) · UniProtKB (1) |
| Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.
Eur. J. Pediatr. 156:7-14(1997) · UniProtKB (1) |
| The clinical and molecular spectrum of androgen insensitivity syndromes. Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
Am. J. Med. Genet. 63:218-222(1996) · UniProtKB (1) |
