Monogenic disorders of puberty

[1] Phenotypic spectrum of mutations in DAX-1 and SF-1 [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2001, 185 (1-2) : 17 - 25

[2] A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [J]. NATURE GENETICS, 1999, 22 (02) : 125 - 126

[3] Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1 [J]. JOURNAL OF PEDIATRICS, 2000, 137 (06) : 878 - 881

[4] Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (10) : 3722 - 3726

[5] MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J]. CELL, 1995, 82 (06) : 959 - 968

[6] Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (01) : 130 - 136

[7] Arnhold IJP, 1997, FERTIL STERIL, V67, P394

[8] Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism [J]. CLINICAL ENDOCRINOLOGY, 1999, 50 (01) : 69 - 75

[9] A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor [J]. JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (07) : 1352 - 1359

[10] Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1563 - 1568

[1] Phenotypic spectrum of mutations in DAX-1 and SF-1 [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2001, 185 (1-2) : 17 - 25

[2] A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [J]. NATURE GENETICS, 1999, 22 (02) : 125 - 126

[3] Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1 [J]. JOURNAL OF PEDIATRICS, 2000, 137 (06) : 878 - 881

[4] Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (10) : 3722 - 3726

[5] MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J]. CELL, 1995, 82 (06) : 959 - 968

[6] Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (01) : 130 - 136

[7] Arnhold IJP, 1997, FERTIL STERIL, V67, P394

[8] Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism [J]. CLINICAL ENDOCRINOLOGY, 1999, 50 (01) : 69 - 75

[9] A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor [J]. JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (07) : 1352 - 1359

[10] Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1563 - 1568