Letter |
| Turan I, Topaloglu AK, Yuksel B, The Authors' Reply: In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient. Clinical endocrinology, 2018 Aug;89(2):241-242 | 2018 |
| Gürbüz F, Ceylaner S, Topaloğlu AK, Yüksel B, Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis. Journal of clinical research in pediatric endocrinology, 2016 Sep 1;8(3):373-4 | 2016 |
| Gürbüz F, Yüksel B, Topaloğlu AK, Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation. Journal of clinical research in pediatric endocrinology, 2016 Dec 1;8(4):496-497 | 2016 |
| Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B, Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis. Journal of clinical research in pediatric endocrinology, 2016 Mar 5;8(1):105-6 | 2016 |
Journal Article |
| Gurbuz F, Alkan M, Celik G, Bisgin A, Cekin N, Unal I, Topaloglu AK, Zorludemir U, Avci A, Yuksel B. Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years’ Experience and Challenges. J Clin Res Pediatr Endocrinol. 2020. | 2020 |
| Kotan LD, Isik E, Turan I, Mengen E, Akkus G, Tastan M, Gurbuz F, Yuksel B, Topaloglu AK, Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. Clinical genetics, 2019 Feb;95(2):320-324 | 2019 |
| Turan I, Kotan LD, Tastan M, Gurbuz F, Topaloglu AK, Yuksel B, Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. Clinical endocrinology, 2018 Jun;88(6):799-805 | 2018 |
| Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Turk J Pediatr. 2017;59(4):434-441. | 2017 |
| Turan I, Hutchins BI, Hacihamdioglu B, Kotan LD, Gurbuz F, Ulubay A, Mengen E, Yuksel B, Wray S, Topaloglu AK, CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. The Journal of clinical endocrinology and metabolism, 2017 Jun 1;102(6):1816-1825 | 2017 |
| Akkuş G, Kotan LD, Durmaz E, Mengen E, Turan İ, Ulubay A, Gürbüz F, Yüksel B, Tetiker T, Topaloğlu AK, Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. Journal of clinical research in pediatric endocrinology, 2017 Jun 1;9(2):95-100 | 2017 |
| Topaloğlu AK, Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of clinical research in pediatric endocrinology, 2017 Dec 30;9(Suppl 2):113-122 | 2017 |
| Topaloglu AK, Kotan LD. Genetics of Hypogonadotropic Hypogonadism. Endocr Dev. 2016;29:36-49. | 2016 |
| Önenli-Mungan N, Kör D, Karabay-Bayazıt A, Cengiz N, Yavuz S, Noyan A, Ceylaner G, Şeker-Yılmaz B, Topaloğlu AK, Yüksel B, Anarat A. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turk J Pediatr. 2016;58(4):362-370. | 2016 |
| Mengen E, Tunc S, Kotan LD, Nalbantoglu O, Demir K, Gurbuz F, Turan I, Seker G, Yuksel B, Topaloglu AK. Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. Horm Res Paediatr. 2016;85(2):107-111. | 2016 |
| Gurbuz F, Ceylaner S, Erdogan S, Topaloglu AK, Yuksel B, Sertoli cell only syndrome with ambiguous genitalia. Journal of pediatric endocrinology & metabolism : JPEM, 2016 Jul 1;29(7):849-52 | 2016 |
| Kotan LD, Cooper C, Darcan Ş, Carr IM, Özen S, Yan Y, Hamedani MK, Gürbüz F, Mengen E, Turan İ, Ulubay A, Akkuş G, Yüksel B, Topaloğlu AK, Leygue E, Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. Journal of clinical research in pediatric endocrinology, 2016 Jun 5;8(2):125-34 | 2016 |
| Hutchins BI, Kotan LD, Taylor-Burds C, Ozkan Y, Cheng PJ, Gurbuz F, Tiong JD, Mengen E, Yuksel B, Topaloglu AK, Wray S, CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. Endocrinology, 2016 May;157(5):1956-66 | 2016 |
| Sari E, Bereket A, Yeşilkaya E, Baş F, Bundak R, Aydın BK, Darcan Ş, Dündar B, Büyükinan M, Kara C, Adal E, Akıncı A, Atabek ME, Demirel F, Çelik N, Özkan B, Özhan B, Orbak Z, Ersoy B, Doğan M, Ataş A, Turan S, Gökşen D, Tarım Ö, Yüksel B, Ercan O, Hatun Ş, Şimşek E, Ökten A, Abacı A, Döneray H, Özbek MN, Keskin M, Önal H, Akyürek N, Bulan K, Tepe D, Emeksiz HC, Demir K, Kızılay D, Topaloğlu AK, Eren E, Özen S, Demirbilek H, Abalı S, Akın L, Eklioğlu BS, Kaba S, Anık A, Baş S, Unuvar T, Sağlam H, Bolu S, Özgen T, Doğan D, Çakır ED, Şen Y, Andıran N, Çizmecioğlu F, Evliyaoğlu O, Karagüzel G, Pirgon Ö, Çatlı G, Can HD, Gürbüz F, Binay Ç, Baş VN, Fidancı K, Gül D, Polat A, Acıkel C, Cinaz P, Darendeliler F, Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome. American journal of medical genetics. Part A, 2016 Apr;170A(4):942-8 | 2016 |
| Gurbuz F, Gurbuz BB, Celik GG, Yildirim V, Ucakturk SA, Seydaoglu G, Ucakturk EM, Topaloglu AK, Yuksel B, Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder. Journal of pediatric endocrinology & metabolism : JPEM, 2016 Jan;29(1):85-92 | 2016 |
| Uslu B, Gurbuz F, Temiz F, Yuksel B, Mungan N, Topaloglu AK, The Investigation of Plasma Glucagon-like Peptide-1 Levels in Newly Diagnosed Type 1 Diabetic Children. The West Indian medical journal, 2015 Sep 3;65(1):141-146 | 2015 |
| Darendeliler F, Yeşilkaya E, Bereket A, Baş F, Bundak R, Sarı E, Küçükemre Aydın B, Darcan Ş, Dündar B, Büyükinan M, Kara C, Mazıcıoğlu MM, Adal E, Akıncı A, Atabek ME, Demirel F, Çelik N, Özkan B, Özhan B, Orbak Z, Ersoy B, Doğan M, Ataş A, Turan S, Gökşen D, Tarım Ö, Yüksel B, Ercan O, Hatun Ş, Şimşek E, Ökten A, Abacı A, Döneray H, Özbek MN, Keskin M, Önal H, Akyürek N, Bulan K, Tepe D, Emeksiz HC, Demir K, Kızılay D, Topaloğlu AK, Eren E, Özen S, Demirbilek H, Abalı S, Akın L, Eklioğlu BS, Kaba S, Anık A, Baş S, Ünüvar T, Sağlam H, Bolu S, Özgen T, Doğan D, Çakır ED, Şen Y, Andıran N, Çizmecioğlu F, Evliyaoğlu O, Karagüzel G, Pirgon Ö, Çatlı G, Can HD, Gürbüz F, Binay Ç, Baş VN, Sağlam C, Gül D, Polat A, Açıkel C, Cinaz P, Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group. Journal of clinical research in pediatric endocrinology, 2015 Sep;7(3):183-91 | 2015 |
| Yeşilkaya E, Bereket A, Darendeliler F, Baş F, Poyrazoğlu Ş, Küçükemre Aydın B, Darcan Ş, Dündar B, Büyükinan M, Kara C, Sarı E, Adal E, Akıncı A, Atabek ME, Demirel F, Çelik N, Özkan B, Özhan B, Orbak Z, Ersoy B, Doğan M, Ataş A, Turan S, Gökşen D, Tarım Ö, Yüksel B, Ercan O, Hatun Ş, Şimşek E, Ökten A, Abacı A, Döneray H, Özbek MN, Keskin M, Önal H, Akyürek N, Bulan K, Tepe D, Emeksiz HC, Demir K, Kızılay D, Topaloğlu AK, Eren E, Özen S, Abalı S, Akın L, Selver Eklioğlu B, Kaba S, Anık A, Baş S, Ünüvar T, Sağlam H, Bolu S, Özgen T, Doğan D, Deniz Çakır E, Şen Y, Andıran N, Çizmecioğlu F, Evliyaoğlu O, Karagüzel G, Pirgon Ö, Çatlı G, Can HD, Gürbüz F, Binay Ç, Baş VN, Fidancı K, Polat A, Gül D, Açıkel C, Demirbilek H, Cinaz P, Bondy C, Turner syndrome and associated problems in Turkish children: a multicenter study. Journal of clinical research in pediatric endocrinology, 2015 Mar;7(1):27-36 | 2015 |
| Baş F, Uyguner ZO, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Şiklar Z, Öcal G, Darcan Ş, Gökşen D, Topaloğlu AK, Yüksel B, Özbek MN, Ercan O, Evliyaoğlu O, Çetinkaya S, Şen Y, Atabek E, Toksoy G, Aydin BK, Bundak R, Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. Endocrine, 2015 Jun;49(2):479-91 | 2015 |
| Demirbilek H, Ozbek MN, Demir K, Kotan LD, Cesur Y, Dogan M, Temiz F, Mengen E, Gurbuz F, Yuksel B, Topaloglu AK, Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. Clinical endocrinology, 2015 Mar;82(3):429-38 | 2015 |
| Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A, MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. American journal of human genetics, 2014 Dec 4;95(6):754-62 | 2014 |
| Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK, Mutations in FEZF1 cause Kallmann syndrome. American journal of human genetics, 2014 Sep 4;95(3):326-31 | 2014 |
| Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR, Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. The Journal of clinical endocrinology and metabolism, 2014 Oct;99(10):E2067-75 | 2014 |
| Osborne B, Yao TW, Wang XM, Chen Y, Kotan LD, Nadvi NA, Herdem M, McCaughan GW, Allen JD, Yu DM, Topaloglu AK, Gorrell MD, A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation. Biochimica et biophysica acta, 2014 Jul;1844(7):1248-59 | 2014 |
| Aslan TB, Gurbuz F, Temiz F, Yuksel B, Topaloglu AK, Etiological evaluation of patients presenting with isolated micropenis to an academic health care center. Indian journal of pediatrics, 2014 Aug;81(8):775-9 | 2014 |
| Keane FM, Yao TW, Seelk S, Gall MG, Chowdhury S, Poplawski SE, Lai JH, Li Y, Wu W, Farrell P, Vieira de Ribeiro AJ, Osborne B, Yu DM, Seth D, Rahman K, Haber P, Topaloglu AK, Wang C, Thomson S, Hennessy A, Prins J, Twigg SM, McLennan SV, McCaughan GW, Bachovchin WW, Gorrell MD. Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs. FEBS Open Bio. 2013;4:43-54. | 2013 |
| Yüksel B, Kulle AE, Gürbüz F, Welzel M, Kotan D, Mengen E, Holterhus PM, Topaloğlu AK, Grötzinger J, Riepe FG. The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development. Horm Res Paediatr. 2013;80(3):163-169. | 2013 |
| Tolu-Kendir O, Kiriş N, Temiz F, Gürbüz F, Onenli-Mungan N, Topaloğlu AK, Yüksel B. Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age. Turk J Pediatr. 2012;54(4):352-361. | 2012 |
| Gürbüz F, Kotan LD, Mengen E, Şıklar Z, Berberoğlu M, Dökmetaş S, Kılıçlı MF, Güven A, Kirel B, Saka N, Poyrazoğlu Ş, Cesur Y, Doğan M, Özen S, Özbek MN, Demirbilek H, Kekil MB, Temiz F, Önenli Mungan N, Yüksel B, Topaloğlu AK, Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. Journal of clinical research in pediatric endocrinology, 2012 Sep;4(3):121-6 | 2012 |
| Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F, Millar RP, Yuksel B, Inactivating KISS1 mutation and hypogonadotropic hypogonadism. The New England journal of medicine, 2012 Feb 16;366(7):629-35 | 2012 |
| Karagun BS, Temiz F, Ozer G, Yuksel B, Topaloglu AK, Mungan NO, Mazman M, Karagun GM, Chromium levels in healthy and newly diagnosed type 1 diabetic children. Pediatrics international : official journal of the Japan Pediatric Society, 2012 Dec;54(6):780-5 | 2012 |
| Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK. A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy. J Pediatr Endocrinol Metab. 2011;24(1-2):105-108. | 2011 |
| Topaloglu AK, Semple RK, Neurokinin B signalling in the human reproductive axis. Molecular and cellular endocrinology, 2011 Oct 22;346(1-2):57-64 | 2011 |
| Tasci E, Ozbek MN, Onenli-Mungan N, Temiz F, Topaloglu AK, Yuksel B, Low serum adiponectin levels in children and adolescents with diabetic retinopathy. The Eurasian journal of medicine, 2011 Apr;43(1):18-22 | 2011 |
| Semple RK, Topaloglu AK. Neurokinin B and its receptor in hypogonadotropic hypogonadism. Front Horm Res. 2010;39:133-141. | 2010 |
| Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B, Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. American journal of human genetics, 2010 Dec 10;87(6):757-67 | 2010 |
| Arman A, Yüksel B, Coker A, Sarioz O, Temiz F, Topaloglu AK, Novel growth hormone receptor gene mutation in a patient with Laron syndrome. Journal of pediatric endocrinology & metabolism : JPEM, 2010 Apr;23(4):407-14 | 2010 |
| Topaloglu AK, Kotan LD, Molecular causes of hypogonadotropic hypogonadism. Current opinion in obstetrics & gynecology, 2010 Aug;22(4):264-70 | 2010 |
| Topaloglu AK, Kotan LD, Yuksel B, Neurokinin B signalling in human puberty. Journal of neuroendocrinology, 2010 Jul;22(7):765-70 | 2010 |
| Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK, Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatric diabetes, 2010 Jun;11(4):279-85 | 2010 |
| Topaloglu AK, Neurokinin B signaling in puberty: human and animal studies. Molecular and cellular endocrinology, 2010 Aug 5;324(1-2):64-9 | 2010 |
| Corander MP, Challis BG, Thompson EL, Jovanovic Z, Loraine Tung YC, Rimmington D, Huhtaniemi IT, Murphy KG, Topaloglu AK, Yeo GS, O'Rahilly S, Dhillo WS, Semple RK, Coll AP, The effects of neurokinin B upon gonadotrophin release in male rodents. Journal of neuroendocrinology, 2010 Mar;22(3):181-7 | 2010 |
| Semple RK, Topaloglu AK, The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions. Clinical endocrinology, 2010 Apr;72(4):427-35 | 2010 |
| Horoz OO, Yuksel B, Bayazit AK, Attila G, Sertdemir Y, Mungan NO, Topaloglu AK, Ozer G. Ambulatory blood pressure monitoring and serum nitric oxide concentration in type 1 diabetic children. Endocr J. 2009;56(3):477-485. | 2009 |
| Ozbek MN, Uslu AB, Onenli-Mungan N, Yuksel B, Pohlenz J, Topaloglu AK, Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. Journal of pediatric endocrinology & metabolism : JPEM, 2009 Nov;22(11):1033-9 | 2009 |
| Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK, Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. The Journal of clinical endocrinology and metabolism, 2009 Oct;94(10):3633-3639 | 2009 |
| Celik U, Celik T, Avci A, Annagur A, Yilmaz HL, Kucukosmanoglu O, Topaloglu AK, Daglioglu N, Metabolic acidosis in a patient with type 1 diabetes mellitus complicated by methanol and amitriptyline intoxication. European journal of emergency medicine : official journal of the European Society for Emergency Medicine, 2009 Feb;16(1):45-8 | 2009 |
| Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK, TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nature genetics, 2009 Mar;41(3):354-358 | 2009 |
| Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, Boscaro M, Topaloglu AK, Mioni R, Fallo F, Zuliani L, Mantero F, Schoenle EJ, Biason-Lauber A, P450c17 deficiency: clinical and molecular characterization of six patients. The Journal of clinical endocrinology and metabolism, 2007 Mar;92(3):1000-7 | 2007 |
| Topaloglu AK, Lu ZL, Farooqi IS, Mungan NO, Yuksel B, O'Rahilly S, Millar RP. Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. Neuroendocrinology. 2006;84(5):301-308. | 2006 |
| Topaloglu AK, Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism. Pediatric endocrinology reviews : PER, 2006 Aug;3 Suppl 3:498-502 | 2006 |
| Maruo Y, Topaloglu AK, Takahashi H, Mori A, Iwai M, Duzovali O, Yamamoto K, Matui K, Sato H, Takeuchi Y, Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. Journal of pediatric gastroenterology and nutrition, 2006 Feb;42(2):236-9 | 2006 |
| Topaloglu AK, Yildizdas D, Yilmaz HL, Mungan NO, Yuksel B, Ozer G, Bone calcium changes during diabetic ketoacidosis: a comparison with lactic acidosis due to volume depletion. Bone, 2005 Jul;37(1):122-7 | 2005 |
| Yildizdaş D, Onenli-Mungan N, Yapicioğlu H, Topaloğlu AK, Sertdemir Y, Yüksel B. Thyroid hormone levels and their relationship to survival in children with bacterial sepsis and septic shock. J Pediatr Endocrinol Metab. 2004;17(10):1435-1442. | 2004 |
| Onenli-Mungan N, Yüksel B, Ozer G, Denli G, Topaloğlu AK, Teker Z. Familial thyroxin-binding globulin excess with ichthyosis: a case report. Turk J Pediatr. 2004;46(2):174-176. | 2004 |
| Onenli-Mungan N, Ozer G, Altunbaşak S, Besley G, Yüksel B, Topaloğlu AK, Soyupak S. Fucosidosis with hypothyroidism: a case report. Turk J Pediatr. 2004;46(2):170-173. | 2004 |
| Onenli-Mungan N, Yüksel B, Elkay M, Topaloğlu AK, Baykal T, Ozer G. Type II hyperprolinemia: a case report. Turk J Pediatr. 2004;46(2):167-169. | 2004 |
| Yuksel B, Braun R, Topaloglu AK, Mungan NO, Ozer G, Huebner A. Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. Horm Res. 2004;61(1):3-6. | 2004 |
| Yapicioğlu H, Satar M, Tutak E, Narli N, Topaloğlu AK. A newborn infant with generalized glutathione synthetase deficiency. Turk J Pediatr. 2004;46(1):72-75. | 2004 |
| Yildizdas D, Topaloglu AK, Mungan NO, Yuksel B, Ozer G, Bone mineral changes in acute metabolic acidosis due to acute gastroenteritis. Calcified tissue international, 2004 Nov;75(5):380-3 | 2004 |
| Borck G, Topaloglu AK, Korsch E, Martiné U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfäffle R, Scherberg NH, Refetoff S, Pohlenz J, Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. The Journal of clinical endocrinology and metabolism, 2004 Aug;89(8):4136-41 | 2004 |
| Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C, Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes, 2004 Jul;53(7):1876-83 | 2004 |
| Onenli-Mungan N, Yildizdas D, Yapicioglu H, Topaloglu AK, Yüksel B, Ozer G, Growth hormone and insulin-like growth factor 1 levels and their relation to survival in children with bacterial sepsis and septic shock. Journal of paediatrics and child health, 2004 Apr;40(4):221-6 | 2004 |
| Ozer G, Teker Z, Cetiner S, Yilmaz M, Topaloglu AK, Onenli-Mungan N, Yüksel B. Serum IL-1, IL-2, TNFalpha and INFgamma levels of patients with type 1 diabetes mellitus and their siblings. J Pediatr Endocrinol Metab. 2003;16(2):203-210. | 2003 |
| Akçam M, Topaloglu Ak, Extremely immature infant who developed clitoromegaly during the second month of her postnatal life probably due to frequent whole blood transfusion from an adult male. Pediatrics international : official journal of the Japan Pediatric Society, 2003 Jun;45(3):347-8 | 2003 |
| Mungan N, Yuksel B, Bakman M, Topaloglu AK, Ozer G, Urinary N-acetyl-beta-D-glucosaminidase activity in type I diabetes mellitus. Indian pediatrics, 2003 May;40(5):410-4 | 2003 |
| Topaloglu AK, Yuksel B, Tuncer R, Mungan NO, Ozer G. Primary hyperparathyroidism in an infant with three parathyroid glands and pulmonary calcinosis. J Pediatr Endocrinol Metab. 2001;14(8):1173-1175. | 2001 |
| Topaloglu AK, Hallioglu O, Canim A, Duzovali O, Yilgor E. Lack of association between plasma leptin levels and appetite in children with iron deficiency. Nutrition. 2001;17(7-8):657-659. | 2001 |
| Hallioglu O, Topaloglu AK, Zenciroglu A, Duzovali O, Yilgor E, Saribas S. Denver developmental screening test II for early identification of the infants who will develop major neurological deficit as a sequalea of hypoxic-ischemic encephalopathy. Pediatr Int. 2001;43(4):400-404. | 2001 |
| Hallioğlu O, Ozge A, Comelekoglu U, Topaloglu AK, Kanik A, Duzovali O, Yilgor E, Evaluation of cerebral maturation by visual and quantitative analysis of resting electroencephalography in children with primary nocturnal enuresis. Journal of child neurology, 2001 Oct;16(10):714-8 | 2001 |
| Topaloglu AK, Yuksel B, Yilmaz M, Mungan NO, Guneser S, Ozer G, Coexistence of common variable immunodeficiency and autoimmune polyglandular syndrome type 2. Journal of pediatric endocrinology & metabolism : JPEM, 2001 May;14(5):565-6 | 2001 |
| Topaloglu AK, Sansaricq C, Snyderman SE, Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency. Pediatric research, 2001 Jun;49(6):796-8 | 2001 |
| Topaloglu AK, Hallioglu O, Duzovali O, Amac A, Yilgor E, Effect of gestational age on plasma fibronectin concentrations in the neonate. Pediatrics international : official journal of the Japan Pediatric Society, 2001 Feb;43(1):26-8 | 2001 |
| Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ, Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Molecular medicine (Cambridge, Mass.), 1999 Dec;5(12):806-11 | 1999 |
| Topaloglu AK, Sansaricq C, Fox JE, Bale AE, Tuchman M, Desnick RJ, Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal of inherited metabolic disease, 1999 Feb;22(1):82-3 | 1999 |
| Ravindranath T, Topaloglu AK, Goto M, Zeller WP, Effects of hydrazine sulfate on galactosamine-sensitized endotoxic shock in ten-day-old rats. Research communications in molecular pathology and pharmacology, 1998 Feb;99(2):233-9 | 1998 |
| Topaloglu AK, Vade A, Zeller WP, Congenital adrenal hyperplasia and bilateral ovarian cysts in a neonate. Clinical pediatrics, 1997 Dec;36(12):719-20 | 1997 |
| Topaloglu AK, Goto M, Ravindranath T, Zeller WP. Galactosamine alters glucose regulation in ten-day-old rats treated with a low dose of endotoxin. Res Commun Mol Pathol Pharmacol. 1996;91(3):297-302. | 1996 |
Book Chapter |
Witchel SF, Topaloglu AK Puberty: Gonadarche and Adrenarche.
In Yen & Jaffe's Reproductive Endocrinology, Physiology, Pathophysiology, and Clinical Management. Editors: Jerome Strauss Robert Barbieri and Antonio Gargiulo. 8th edition. ISBN: 9780323582339. Elsevier, Philadelphia, 2018 | |
Topaloglu AK, Kotan LD Human Genetics of the GNRH neuron function. In The GnRH Neuron and its Control. Editors: Allan E. Herbison and Tony M. Plant
ISBN: 978-1-119-23324-4 Wiley-Blackwell, Singapore, 2018. | |
| Topaloglu AK, Kotan LD Genetics of Hypogonadotropic Hypogonadism. In Puberty from Bench to Clinic Lessons for Clinical Management of Pubertal Disorders. Editor(s): Bourguignon JP, Parent AS ISBN: 978-3-318-02788-4 Karger AG, Basel, 2016 | |
| Topaloglu AK Moleküler Endokrinoloji (In Turkish) In Çocuk Endokrinolojisi Editors: Peyami Cinaz et al. Nobel 2014 ISBN: 9786053350118. | |