Researcher:
Azaklı, Hülya

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PhD Student

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Hülya

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Azaklı

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Azaklı, Hülya

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2019 - 201922020 - 20223

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Researcher Of Publications: search.filters.isAuthorOfPublication.6c2f7ce8-09ac-4e52-975f-e03b6469c6c7

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    Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis
    (Wiley, 2022) Shukla, Anju; Ledig, Susanne; Nayak, Shalini S.; Girisha, Katta Mohan; Kennerknecht, Ingo; Altunoğlu, Umut; Börklü Yücel, Esra; Azaklı, Hülya; Eraslan, Serpil; Kayserili, Hülya; Faculty Member; Other; Researcher; PhD Student; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; N/A; School of Medicine; Graduate School of Health Sciences; N/A; School of Medicine; Koç University Hospital; Koç University Hospital; Koç University Hospital; N/A; Koç University Hospital; Koç University Hospital; 126174; N/A; N/A; N/A; N/A; 7945
    Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian descent with three different germline homozygous PPP2R3C variants including a novel in-frame duplication (c.639_647dupTTTCTACTC, p.Ser216_Tyr218dup). All patients exhibit recognizable facial dysmorphisms allowing gestalt diagnosis. In two 46,XX patients with hypergonadotropic hypogonadism and nonvisualized gonads, primary amenorrhea along with absence of secondary sexual characteristics and/or unique facial gestalt led to the diagnosis. 46,XY affected individuals displayed a spectrum of external genital phenotypes from ambiguous genitalia to complete female. We expand the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to both XY and XX gonadal dysgenesis. Our findings supported neither ocular nor muscular involvement as major criteria of the syndrome. We also did not encounter infertility problems in the carriers. Since both XX and XY individuals were affected, we hypothesize that PPP2R3C is essential in the early signaling cascades controlling sex determination in humans.
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    Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
    (Wiley, 2019) Demirkesen, Cuyan; N/A; N/A; N/A; N/A; N/A; Azaklı, Hülya; Akkaya, Ayşe Deniz; Aygün, Murat Serhat; Eraslan, Serpil; Kayserili, Hülya; PhD Student; Doctor; Teaching Faculty; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; School of Medicine; N/A; 274199; 291692; N/A; 7945
    Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
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    Expanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvement
    (Springernature, 2020) Shukla, A.; Escande-Beillard, N.; Ledig, S.; Girisha, K.; Kennerknecht, I.; N/A; N/A; N/A; N/A; N/A; Altunoğlu, Umut; Börklü Yücel, Esra; Azaklı, Hülya; Eraslan, Serpil; Kayserili, Hülya; Faculty Member; Other; PhD Student; Researcher; Faculty Member; School of Medicine; School of Medicine; Graduate School of Health Sciences; School of Medicine; School of Medicine; 126174; N/A; N/A; N/A; 7945
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    Oncopanel screening for hereditary cancers: a retrospective review of a hospital-based experience
    (Springernature, 2020) N/A; N/A; N/A; N/A; N/A; N/A; Yılmaz, Ertürk; Börklü Yücel, Esra; Avcı, Seymen; Azaklı, Hülya; Saraçoğlu, Pelin; Eraslan, Serpil; Kayserili, Hülya; Undergraduate Student; Other; Other; PhD Student; Other; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); College of Engineering; School of Medicine; N/A; Graduate School of Health Sciences; N/A; N/A; School of Medicine; N/A; N/A; N/A; N/A; N/A; N/A; 7945
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    PublicationOpen Access
    TRMU-related transient liver failure of infancy presents with microcephaly and neurodevelopmental delay
    (Nature Publishing Group (NPG), 2019) N/A; N/A; Azaklı, Hülya; Börklü Yücel, Esra; Arıkan, Çiğdem; Armutlu, Ayşe; Eraslan, Serpil; Kayserili, Hülya; PhD Student; Faculty Member; Teaching Faculty; Researcher; Graduate School of Health Sciences; School of Medicine; N/A; N/A; N/A; N/A; N/A; 7945