| 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) |
| Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction. Thiele S., de Sanctis L., Werner R., Grotzinger J., Aydin C., Juppner H., Bastepe M., Hiort O.
Hum. Mutat. 32:653-660(2011) · UniProtKB (1) · Mapped (15) |
| Gsalpha activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus. Zazo C., Thiele S., Martin C., Fernandez-Rebollo E., Martinez-Indart L., Werner R., Garin I., Hiort O., Perez de Nanclares G.
J. Bone Miner. Res. 26:1864-1870(2011) · Mapped (16) |
| 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) |
| P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia. Hauffa B., Hiort O.
Endocr Dev 20:54-62(2011) · Mapped (6) |
| Deletion and point mutations of PTHLH cause brachydactyly type E. Klopocki E., Hennig B.P., Dathe K., Koll R., de Ravel T., Baten E., Blom E., Gillerot Y., Weigel J.F., Krueger G. et al.
Am. J. Hum. Genet. 86:434-439(2010) · UniProtKB (1) · Mapped (5) |
| Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. Lecumberri B., Fernandez-Rebollo E., Sentchordi L., Saavedra P., Bernal-Chico A., Pallardo L.F., Bustos J.M., Castano L., de Santiago M., Hiort O. et al.
J. Med. Genet. 47:276-280(2010) · Mapped (16) |
| Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation. Semiz S., Duzcan F., Candemir M., Caner V., Thiele S., Semiz E., Hiort O.
J. Pediatr. Endocrinol. Metab. 22:107-108(2009) · Mapped (16) |
| The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Kohler B., Lin L., Mazen I., Cetindag C., Biebermann H., Akkurt I., Rossi R., Hiort O., Gruters A., Achermann J.C.
Eur. J. Endocrinol. 161:237-242(2009) · Mapped (6) |
| 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) |
| In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. Werner R., Zhan J., Gesing J., Struve D., Hiort O.
Sex Dev 2:73-83(2008) · Mapped (11) |
| 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) |
| 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal. Bertelloni S., Maggio M.C., Federico G., Baroncelli G., Hiort O.
Gynecol. Endocrinol. 22:488-494(2006) · Mapped (4) |
| A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. Bahceci M., Ersay A.R., Tuzcu A., Hiort O., Richter-Unruh A., Gokalp D.
Urology 66:407-410(2005) · UniProtKB (1) |
| 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) |
| Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Riepe F.G., Ahrens W., Krone N., Foelster-Holst R., Brasch J., Sippell W.G., Hiort O., Partsch C.-J.
Eur. J. Endocrinol. 152:515-519(2005) · UniProtKB (1) |
| Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome. Krause A., Sinnecker G.H., Hiort O., Thamm B., Hoepffner W.
Exp. Clin. Endocrinol. Diabetes 112:236-240(2004) · Mapped (8) |
| Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias. Tria A., Hiort O., Sinnecker G.H.
Horm. Res. 61:180-183(2004) · Mapped (4) |
| A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. Pohlenz J., Ahrens W., Hiort O.
Eur. J. Endocrinol. 148:463-468(2003) · UniProtKB (1) |
| 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) |
| Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. Ahrens W., Hiort O., Staedt P., Kirschner T., Marschke C., Kruse K.
J. Clin. Endocrinol. Metab. 86:4630-4634(2001) · UniProtKB (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) |
| Etiologic classification of severe hypospadias: implications for prognosis and management. Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H., Mildenberger H., Brodehl J.
J. Pediatr. 131:386-392(1997) · 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) |
