Search Results - "Topaloğlu, A."

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism by Topaloglu, A. Kemal

“…Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date,…”
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Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 by Kotan, Leman Damla, Cooper, Charlton, Darcan, Şükran, Carr, Ian M, Özen, Samim, Yan, Yi, Hamedani, Mohammad K, Gürbüz, Fatih, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Akkuş, Gamze, Yüksel, Bilgin, Topaloğlu, A Kemal, Leygue, Etienne

“…What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be…”
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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations by Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A Kemal

“…The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of…”
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Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism by Topaloglu, A. Kemal, Tello, Javier A, Kotan, L. Damla, Ozbek, Mehmet N, Yilmaz, M. Bertan, Erdogan, Seref, Gurbuz, Fatih, Temiz, Fatih, Millar, Robert P, Yuksel, Bilgin

“…Kisspeptin and neurokinin B stimulate gonadotropin-releasing hormone. The authors describe an inactivating mutation in the human kisspeptin gene KISS1 leading…”
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MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability by Wood-Trageser, Michelle A., Gurbuz, Fatih, Yatsenko, Svetlana A., Jeffries, Elizabeth P., Kotan, L. Damla, Surti, Urvashi, Ketterer, Deborah M., Matic, Jelena, Chipkin, Jacqueline, Jiang, Huaiyang, Trakselis, Michael A., Topaloglu, A. Kemal, Rajkovic, Aleksandar

“…Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We…”
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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision by Van den Bergh, Peter Y. K., Doorn, Pieter A., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Allen, Jeffrey A., Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Eftimov, Filip, Goedee, H. Stephan, Harbo, Thomas, Kuwabara, Satoshi, Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Sommer, Claudia, Topaloglu, Haluk A.

“…Objective To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods Seventeen disease experts, a…”
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Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1 by Ulubay, Ayca, Kotan, L. Damla, Cooper, Charlton, Darcan, Sukran, Carr, Ian M, Ozen, Samim, Yan, Yi, Hamedani, Mohammad K, Gurbuz, Fatih, Mengen, Eda, Turan, Ihsan, Akkus, Gamze, Yuksel, Bilgin, Leygue, Etienne, Topaloglu, A. Kemal

“…Objective: What initiates pubertal process in humans and other mammals has remained elusive. We hypothesized that gene(s) taking roles in triggering human…”
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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision by Van den Bergh, Peter Y. K., Doorn, Pieter A., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Allen, Jeffrey A., Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Eftimov, Filip, Goedee, H. Stephan, Harbo, Thomas, Kuwabara, Satoshi, Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Sommer, Claudia, Topaloglu, Haluk A.

“…To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Seventeen disease experts, a patient…”
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Review of human genetic and clinical studies directly relevant to GnRH signalling by Seminara, Stephanie B., Topaloglu, A. Kemal

“…GnRH is the pivotal hormone in controlling the hypothalamic‐pituitary gonadal (HPG) axis in humans and other mammalian species. GnRH function is influenced by…”
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Mutations in FEZF1 Cause Kallmann Syndrome by Kotan, L. Damla, Hutchins, B. Ian, Ozkan, Yusuf, Demirel, Fatma, Stoner, Hudson, Cheng, Paul J., Esen, Ihsan, Gurbuz, Fatih, Bicakci, Y. Kenan, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal

“…Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral…”
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Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism by Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, Ihsan, Delpouve, Gaspard, De Kardelen, Asli rya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, De Cakir, Esra niz P., Yuksel, Aysegul, Agladioglu, Sebahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Topaloglu, A. Kemal

“…Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH)…”
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction by Topaloglu, A Kemal, O'Rahilly, Stephen, Reimann, Frank, Guclu, Metin, Yalin, Ayse Serap, Kotan, L Damla, Porter, Keith M, Serin, Ayse, Mungan, Neslihan O, Cook, Joshua R, Ozbek, Mehmet N, Imamoglu, Sazi, Akalin, N Sema, Yuksel, Bilgin, Semple, Robert K

“…The timely secretion of gonadal sex steroids is essential for the initiation of puberty, the postpubertal maintenance of secondary sexual characteristics and…”
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Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans by Topaloglu, A. Kemal, Simsek, Enver, Kocher, Matthew A., Mammadova, Jamala, Bober, Ece, Kotan, Leman Damla, Turan, Ihsan, Celiloglu, Can, Gurbuz, Fatih, Yuksel, Bilgin, Good, Deborah J.

“…Metabolism has a role in determining the time of pubertal development and fertility. Nonetheless, molecular/cellular pathways linking metabolism/body weight to…”
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PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism by Welch, Bradley A., Cho, Hyun‐ju, Ucakturk, Seyit Ahmet, Farmer, Stephen Matthew, Cetinkaya, Semra, Abaci, Ayhan, Akkus, Gamze, Simsek, Enver, Kotan, Leman Damla, Turan, Ihsan, Gurbuz, Fatih, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal

“…Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin‐releasing…”
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In Situ Respirometric Kinetic Analysis of a Thermophilic Jet Loop Bioreactor by İnce, M., İnce, E., Topaloğlu, A.

“…Future liability considerations and stringent regulatory requirements often lead the users to choose end product-driven processes. Over the last decade,…”
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Effect of sildenafil on ocular hemodynamics in 3 months regular use by DÜNDAR, S. O, DAYANIR, Y, TOPALOGLU, A, DÜNDAR, M, KOCAK, I

“…The aim of this study was to evaluate the effect of sildenafil on ocular hemodynamics in a group of men with erectile dysfunction in 3 months regular use. A…”
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The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions by Semple, Robert K., Topaloglu, A. Kemal

“…Summary The complex organization and regulation of the human hypothalamic–pituitary–gonadal axis render it susceptible to dysfunction in the face of a variety…”
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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders by Sun, Bang, Stamou, Maria I, Stockman, Sara L, Campbell, Mark B, Plummer, Lacey, Salnikov, Kathryn B, Kotan, Leman Damla, Topaloglu, A Kemal, Hisama, Fuki M, Davis, Erica E, Seminara, Stephanie B, Balasubramanian, Ravikumar

“…SOX11 variants cause Coffin-Siris Syndrome (CSS), characterized by developmental delay, hypogonadotropic hypogonadism (HH), skeletal and facial defects. To…”
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Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism by Kotan, Leman D., Isik, Emregul, Turan, Ihsan, Mengen, Eda, Akkus, Gamze, Tastan, Mehmet, Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, A. Kemal

“…Idiopathic hypogonadotropic hypogonadism (IHH) can be divided into two major forms, normosmic IHH and Kallmann syndrome (KS). Genetic mutations are responsible…”
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Genetics of Hypogonadotropic Hypogonadism by Topaloglu, A Kemal, Kotan, L Damla

“…Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerable proportion of cases of HH is due to genetic mutations. Recognizing those…”
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