Franziska Phan-Hug

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Daniele Cassatella, Sasha Howard, James S. Acierno et al. · European Journal of Endocrinology · 2018 · 131 citations · Full text

Medicine, Endocrinology, Genetics +13

Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with <i>TPIT</i> Gene Mutations

Catherine Couture, Alexandru Saveanu, Anne Barlier et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 88 citations · Full text

Medicine, Endocrinology, Genetics +14

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu et al. · Genetics in Medicine · 2014 · 74 citations · Full text

Medicine, Endocrinology, Genetics +11

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Corin Badiu, Marco Bonomi, Ivan Borshchevsky et al. · Orphanet Journal of Rare Diseases · 2017 · 68 citations · Full text

Education, Educational Assessment, Pediatrics +13

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye et al. · Nature Communications · 2017 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17