Condition: Reifenstein Syndrome


rs104894742 in AR gene and Reifenstein Syndrome PMID 8097257 1993 Mutations of the androgen receptor gene identified in perineal hypospadias.

PMID 8325932 1993 A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.

PMID 11587068 2001 Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 8126121 1994 Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

PMID 8033918 1994 Molecular characterization of the androgen receptor gene in boys with hypospadias.

PMID 1307250 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

PMID 10543676 1999 Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.

PMID 1316540 1992 Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.

PMID 7929841 1994 Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.

PMID 8823308 1996 A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.

PMID 14756668 2004 Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.

PMID 9302173 1997 Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

PMID 7970939 1994 A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

PMID 1424203 1992 Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.

PMID 7649358 1995 A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

PMID 8325950 1993 Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

PMID 9768671 1998 Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

PMID 9039340 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

PMID 8824883 1996 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

PMID 9543136 1998 Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.

PMID 8824883 1996 The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.

PMID 8824883 1996 The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.

PMID 8824883 1996 The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.

PMID 8325932 1993 A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.