scholarly journals Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing

2017 ◽  
Vol 32 (10) ◽  
pp. 2138-2146 ◽  
Author(s):  
Binbin Wang ◽  
Lin Li ◽  
Ying Zhu ◽  
Wei Zhang ◽  
Xi Wang ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Primary Ovarian Insufficiency ◽  
Sequence Variants ◽  
Ovarian Insufficiency ◽  
High Penetrance

Author response for "An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes"

2020 ◽  
Author(s):  
Maria Isabel Alvarez‐Mora ◽  
Anne‐Laure Todeschini ◽  
Sandrine Caburet ◽  
Lilach Peled Perets ◽  
Montserrat Mila ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Primary Ovarian Insufficiency ◽  
Author Response ◽  
Sequence Variants ◽  
Ovarian Insufficiency

An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes

2020 ◽  
Vol 98 (3) ◽  
pp. 293-298
Author(s):  
Maria Isabel Alvarez‐Mora ◽  
Anne‐Laure Todeschini ◽  
Sandrine Caburet ◽  
Lilach Peled Perets ◽  
Montserrat Mila ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Primary Ovarian Insufficiency ◽  
Sequence Variants ◽  
Ovarian Insufficiency

In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants

2020 ◽  
Vol 40 (1) ◽  
pp. 151-159
Author(s):  
Juliette Bertrand-Delepine ◽  
Sylvie Manouvrier-hanu ◽  
Maryse Cartigny ◽  
Françoise Paris ◽  
Delphine Mallet ◽  
...  
Keyword(s):  
Gonadal Development ◽  
Primary Ovarian Insufficiency ◽  
Sequence Variants ◽  
Ovarian Insufficiency

Demographic characteristics and therapeutical management in patients with primary ovarian insufficiency

2014 ◽  
Author(s):  
Mariana Tome ◽  
Pinillos Guillermo Martinez De ◽  
Mariola Mendez ◽  
Quiros Juan Manuel Garcia De ◽  
Jose Ignacio Fernandez Pena ◽  
...  
Keyword(s):  
Primary Ovarian Insufficiency ◽  
Demographic Characteristics ◽  
Ovarian Insufficiency
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