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A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
(ELSEVIER SCIENCE INC, 2010)
Objective: To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. Design: Case report. Setting: University medical ...
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Associated with True Hermaphroditism.
(Endocrine Soc, 2010-06-01)
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Associated with True Hermaphroditism.
(Endocrine Soc, 2010-06-01)
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome
(Lippincott Williams, 2020-01)
Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS; OMIM 603736), which overlaps with the originally described Ohdo syndrome (Verloes, 2006), is an autosomal dominant disorder, clinically recognizable at birth. Classical ...
MON-235 Bone Morphogenic Protein Receptor Variants: A New Cause of Primary Ovarian Insufficiency
Primary ovarian insufficiency (POI) is a major cause of infertility. This disease is characterized by amenorrhea with an increase in gonadotropin levels and affects 1% of women before the age of 40. POI may be the result ...
Disección molecular de la etiología de la falla ovárica prematura por secuenciación directa y NGS: estudio de la implicación de los genes CITED2, CDKN1B, FOXO4, BMP15 y ADAMTS19
(Universidad del RosarioDoctorado en Ciencias BiomédicasFacultad de Ciencias Naturales y Matemáticas, 2016)
Premature ovarian failure (POF) is a frequent disease, affecting 1% of women under 40 years old (Coulam et al, 1986). Clinically, POF women are affected by primary or secondary amenorrhoea and increased plasma levels of ...
Identificación de interacciones proteicas de ADAMTS19 en un contexto ovárico
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)
ADAMTS proteins (disintegrins and metalloproteinases with thrombospondin motifs) have been associated with various biological processes including follicular development and ovulation. Some members are considered orphan ...