SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

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Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.

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SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年论文

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SF1 and spleen development: ne ...... -mutated patient's management.

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SF1 and spleen development: ne ...... -mutated patient's management.

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SF1 and spleen development: ne ...... -mutated patient's management.

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SF1 and spleen development: ne ...... -mutated patient's management.

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SF1 and spleen development: ne ...... -mutated patient's management.

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SF1 and spleen development: ne ...... -mutated patient's management.

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SF1 and spleen development: ne ...... 1-mutated patient's management

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A-A Rémy

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C Lefèvre

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P2860

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Mutations in NR5A1 associated with ovarian insufficiency

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

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99-103

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scholarly article

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10.1111/CGE.12957

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Pascal Philibert

Martine Cools

C Colson

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2017-02-22T00:00:00Z

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28032338

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SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

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SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

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