Browsing by Author "Hacıhamdioğlu, Bülent"
Now showing items 1-6 of 6
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A Case of Gonadotropin-independent precocious puberty due to germ cell tumor in the frontal lobe
Hacıhamdioğlu, Bülent; Yalçın, Koray; Çelen, Safiye Suna; Hazar, Volkan (Karger, 2019)It is known that gonadotropin-independent or peripheral precocious puberty (PPP) may develop due to tumors that secrete beta human chorionic gonadotropin (Beta-HCG) -
A case of the perinatal form hypophosphatasia caused by a novel large duplication of the ALPL gene and report of one year follow-up with enzyme replacement therapy
Hacıhamdioğlu, Bülent; Özgürhan, Gamze; Pereira, Catarina; Tepeli, Emre; Acar, Gülşen; Cömert, Serdar (Galenos Yayincilik, 2019)Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1 % of the mutations ... -
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tülay; Abalı, Zehra Yavaş; Lupski, James R.; Hacıhamdioğlu, Bülent (Endocrine Soc, 2019)Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hyper-gonadotropic hypogonadism presenting as ... -
Genetic and clinical characteristics of patients with vitamin D dependent rickets type 1A
Dursun, Fatma; Özgürhan, Gamze; Kırmızıbekmez, Heves; Keskin, Ece; Hacıhamdioğlu, Bülent (Galenos Yayincilik, 2019)Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1 alpha-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic ... -
Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report
Insulin receptor mutations lead to heterogeneous disorders; as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders are homozygous or compound heterozygous mutations. ... -
Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and two year follow-up under enzyme replacement therapy; a case report
Hacıhamdioğlu, Bülent; Özgürhan, Gamze; Pereira, Catarina; Tepeli, Emre; Acar, Gülşen; Cömert, Serdar (Karger, 2019)Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissuenonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has ...
