Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c

Authors: Brunkhorst, Max ^{1, 26}, Brunkhorst, Lena ^{1, 26}, Martens, Helge ², Papizh, Svetlana ³, Besouw, Martine ⁴, Grasemann, Corinna ⁵, Turan, Serap ⁶, Sikora, Przemyslaw ⁷, Chromek, Milan ^{8, 9}, Cornelissen, Elisabeth ¹⁰, Fila, Marc ¹¹, Lilien, Marc ¹², Allgrove, Jeremy ¹³, Neuhaus, Thomas J. ¹⁴, Eltan, Mehmet ⁶, Espinosa, Laura ¹⁵, Schnabel, Dirk ¹⁶, Gokce, Ibrahim ¹⁷, González-Rodríguez, Juan David ¹⁸, Khandelwal, Priyanka ¹⁹, Keijzer-Veen, Mandy G. ²⁰, Lechner, Felix ²¹, Szczepańska, Maria ²², Zaniew, Marcin ²³, Bacchetta, Justine ²⁴, Emma, Francesco ²⁵, Haffner, Dieter ^{1, ∗}

Source: In Kidney International January 2025 107(1):116-129

Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature

Authors: Kirkgoz, Tarik, Abali, Saygin, Seker, Askin, Gurpinar Tosun, Busra, Eltan, Mehmet, Helvacioglu, Didem, Haliloglu, Belma, Kaygusuz, Sare Betul, Yavas Abali, Zehra, Seven Menevse, Tuba, Bozkurt, Suheyla, Ones, Tunc, Guran, Tulay, Dagcinar, Adnan, Bereket, Abdullah, Turan, Serap

Source: Hormone research in pædiatrics. 96(5):527-537

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195578483.0x000001&indx=1&recIds=ETOCvdc_100195578483.0x000001

Assessing Physical Activity in Obese Children: Reliability and Validity of the PAQ-C.

Authors: Eltan, Mehmet, Kırkgöz, Tarık

Source: Comprehensive Medicine; 2025, Vol. 17 Issue 1, p51-55, 5p

Subject Terms: OVERWEIGHT children, CHILD patients, CRONBACH'S alpha, LIFE satisfaction, PHYSICAL activity

Presentation and outcome in carriers of pathogenic variants in SLC34A1and SLC34A3encoding sodium-phosphate transporter NPT 2a and 2c

Authors: Brunkhorst, Max, Brunkhorst, Lena, Martens, Helge, Papizh, Svetlana, Besouw, Martine, Grasemann, Corinna, Turan, Serap, Sikora, Przemyslaw, Chromek, Milan, Cornelissen, Elisabeth, Fila, Marc, Lilien, Marc, Allgrove, Jeremy, Neuhaus, Thomas J., Eltan, Mehmet, Espinosa, Laura, Schnabel, Dirk, Gokce, Ibrahim, González-Rodríguez, Juan David, Khandelwal, Priyanka, Keijzer-Veen, Mandy G., Lechner, Felix, Szczepańska, Maria, Zaniew, Marcin, Bacchetta, Justine, Emma, Francesco, Haffner, Dieter

Source: Kidney International; January 2025, Vol. 107 Issue: 1 p116-129, 14p

MTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

Authors: Schlingmann, Karl P., Jouret, François, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerüschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Güran, Tülay, Burtey, Stéphane, Parotte, Marie-Christine, König, Jens, Braun, Alina, Bos, Caro, Ibars Serra, Maria, Rehmann, Holger, Zwartkruis, Fried J.T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmüller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V.A.M., Konrad, Martin, de Baaij, Jeroen H.F.

Source: Journal of the American Society of Nephrology. 32(11):2885-2899

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192922183.0x000001&indx=1&recIds=ETOCvdc_100192922183.0x000001

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation

Authors: Gulcan-Kersin, Sinem, Kirkgoz, Tarik, Eltan, Mehmet, Rzayev, Turkay, Ata, Pinar, Bilgen, Hulya, Ozek, Eren, Bereket, Abdullah, Turan, Serap

Source: Hormone research in pædiatrics. 93(5):313-321

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111106610.0x000001&indx=1&recIds=ETOCvdc_100111106610.0x000001

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Authors: Eltan, Mehmet, Alavanda, Ceren, Yavas Abali, Zehra, Ergenekon, Pinar, Yalındag Ozturk, Nilufer, Sakar, Mustafa, Dagcinar, Adnan, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Gokdemir, Yasemin, Elcioglu, Huriye Nursel, Guran, Tulay, Bereket, Abdullah, Ata, Pinar, Turan, Serap

Source: Calcified tissue international. 107(1):96-103

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167910273.0x000001&indx=1&recIds=ETOCvdc_100167910273.0x000001

Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

Authors: Eltan, Mehmet, Yavas Abali, Zehra, Arslan Ates, Esra, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Türkyılmaz, Ayberk, Bereket, Abdullah, Turan, Serap, Guran, Tulay

Source: Hormone research in pædiatrics. 92(4):262-268

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100100495244.0x000001&indx=1&recIds=ETOCvdc_100100495244.0x000001

Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature

Authors: Abali, Zehra Yavas, Yesil, Gozde, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Eltan, Mehmet, Turan, Serap, Bereket, Abdullah, Guran, Tulay

Source: Hormones. 18(2):229-236

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130045939.0x000001&indx=1&recIds=ETOCvdc_100130045939.0x000001

Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients.

Authors: Kırkgöz, Tarık¹, Eltan, Mehmet¹, Kaygusuz, Sare Betül¹, Abalı, Zehra Yavaş¹, Helvacıoğlu, Didem¹, Menevşe, Tuba Seven¹, Tosun, Büşra Gürpınar¹, Güran, Tülay¹, Bereket, Abdullah¹, Turan, Serap¹ serap.turan@marmara.edu.tr

Source: Journal of Clinical Research in Pediatric Endocrinology. Mar2022, Vol. 14 Issue 1, p10-16. 7p.

Subject Terms: *INSULIN aspart, *DRUG efficacy, *GLYCOSYLATED hemoglobin, *COMBINATION drug therapy, *INSULIN derivatives, *TYPE 1 diabetes, *HYPOGLYCEMIA, *DRUGS, *DESCRIPTIVE statistics, *PATIENT compliance, *DIABETIC acidosis, *DRUG administration, *DISEASE risk factors, *DRUG dosage, *THERAPEUTICS, *EVALUATION, *CHILDREN, *ADOLESCENCE

Adrenocortical carcinoma in atypical Beckwith‐Wiedemann syndrome due to loss of methylation at imprinting control region 2

Authors: Eltan, Mehmet, Arslan Ates, Esra, Cerit, Kivilcim, Menevse, Tuba Seven, Kaygusuz, Sare Betul, Eker, Nursah, Bagci, Pelin, Ergelen, Rabia, Turan, Serap, Bereket, Abdullah, Guran, Tulay

Source: Pediatric blood & cancer. 67(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100150203277.0x000001&indx=1&recIds=ETOCvdc_100150203277.0x000001

Çocukluk Çağı Hodgkin Lenfoma Nedeniyle Tedavi Gören Hastalarda Tiroid Fonksiyonlarının Değerlendirilmesi.

Alternate Title: Evaluation of Thyroid Functions in Patients Treated Pediatric Hodgkin Lymphoma.

Authors: Eltan, Mehmet¹, Akıcı, Ferhan¹, Aydoğan, Gönül¹, Şalcıoğlu, Zafer¹, Er, Ali², Önal, Hasan³, İribaş, Ayça⁴, Darendeliler, Mehmet Emin⁴, Tuğcu, Deniz¹ tugcudeniz@gmail.com

Source: Journal of the Child / Çocuk Dergisi. 2019, Vol. 19 Issue 3, p124-131. 8p.

Subject Terms: *HODGKIN'S disease, *TREATMENT effectiveness, *RADIONUCLIDE imaging, *THYROID gland, *PEDIATRIC hematology, *CONGENITAL hypothyroidism

Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.

Authors: Kırkgöz, Tarık, Kaygusuz, Sare Betül, Alavanda, Ceren, Helvacıoğlu, Didem, Abalı, Zehra Yavaş, Tosun, Büşra Gürpınar, Eltan, Mehmet, Menevşe, Tuba Seven, Guran, Tulay, Arman, Ahmet, Turan, Serap, Bereket, Abdullah

Source: Journal of Pediatric Endocrinology & Metabolism; Apr2023, Vol. 36 Issue 4, p401-408, 8p

Molecular analysis of MKRN3gene in Turkish girls with sporadic and familial idiopathic central precocious puberty

Authors: Kırkgöz, Tarık, Kaygusuz, Sare Betül, Alavanda, Ceren, Helvacıoğlu, Didem, Abalı, Zehra Yavaş, Tosun, Büşra Gürpınar, Eltan, Mehmet, Menevşe, Tuba Seven, Guran, Tulay, Arman, Ahmet, Turan, Serap, Bereket, Abdullah

Source: Journal of Pediatric Endocrinology & Metabolism; April 2023, Vol. 36 Issue: 4 p401-408, 8p

Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.

Authors: Ates, Esra Arslan¹, Eltan, Mehmet², Sahin, Bahadir³, Tosun, Busra Gurpinar², Menevse, Tuba Seven², Geckinli, Bilgen Bilge¹, Greenfield, Andy⁴, Turan, Serap², Bereket, Abdullah², Guran, Tulay² tulayguran@yahoo.com

Source: European Journal of Endocrinology. May2022, Vol. 186 Issue 5, pK25-K31. 7p.

Subject Terms: *HOMOZYGOSITY, *ANTI-Mullerian hormone, *OVARIAN reserve, *MALE infertility, *HYPOGONADISM, *SIBLINGS, *GENETIC mutation, *GYNECOMASTIA, *HYPOSPADIAS

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.

Authors: Eltan, Mehmet¹ (AUTHOR), Yavas Abali, Zehra¹ (AUTHOR), Turkyilmaz, Ayberk² (AUTHOR), Gokce, Ibrahim³ (AUTHOR), Abali, Saygın¹ (AUTHOR), Alavanda, Ceren² (AUTHOR), Arman, Ahmet² (AUTHOR), Kirkgoz, Tarik¹ (AUTHOR), Guran, Tulay¹ (AUTHOR), Hatun, Sukru⁴ (AUTHOR), Bereket, Abdullah¹ (AUTHOR), Turan, Serap¹ (AUTHOR) serap.turan@marmara.edu.tr

Source: Calcified Tissue International. Apr2022, Vol. 110 Issue 4, p441-450. 10p.

Subject Terms: *HYPOMAGNESEMIA, *KIDNEY calcification, *GENETIC mutation, *SYMPTOMS, *VITAMIN D, *CHRONIC kidney failure, *URINARY tract infections

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

Authors: Cicek, Dilek, Warr, Nick, Yesil, Gozde, Eker, Hatice Kocak, Bas, Firdevs, Poyrazoglu, Sukran, Darendeliler, Feyza, Direk, Gul, Hatipoglu, Nihal, Eltan, Mehmet, Abali, Zehra Yavas, Tosun, Busra Gurpinar, Kaygusuz, Sare Betul, Menevse, Tuba Seven, Helvacioglu, Didem, Turan, Serap, Bereket, Abdullah, Reeves, Richard, Simon, Michelle, Mackenzie, Matthew

Source: European Journal of Endocrinology; Jan2022, Vol. 186 Issue 1, p65-72, 8p

Subject Terms: GONADAL dysgenesis, GENETIC variation, ANTI-Mullerian hormone, FOLLICLE-stimulating hormone, KNOCKOUT mice

Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Authors: Kaygusuz, Sare Betul, Alavanda, Ceren, Kirkgoz, Tarik, Eltan, Mehmet, Yavas Abali, Zehra, Helvacioglu, Didem, Guran, Tulay, Ata, Pinar, Bereket, Abdullah, Turan, Serap

Source: Calcified Tissue International; May2021, Vol. 108 Issue 5, p576-586, 11p

Subject Terms: RICKETS, VITAMINS, CALCITRIOL, GENOTYPES

mTOR-Activating Mutations in RRAGDAre Causative for Kidney Tubulopathy and Cardiomyopathy

Authors: Schlingmann, Karl P., Jouret, François, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerüschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Güran, Tülay, Burtey, Stéphane, Parotte, Marie-Christine, König, Jens, Braun, Alina, Bos, Caro, Ibars Serra, Maria, Rehmann, Holger, Zwartkruis, Fried J.T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmüller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V.A.M., Konrad, Martin, de Baaij, Jeroen H.F.

Source: Journal of the American Society of Nephrology; November 2021, Vol. 32 Issue: 11 p2885-2899, 15p

Evaluation of growth and puberty in a child with a novel TBX19gene mutation and review of the literature

Authors: Abali, Zehra, Yesil, Gozde, Kirkgoz, Tarik, Kaygusuz, Sare, Eltan, Mehmet, Turan, Serap, Bereket, Abdullah, Guran, Tulay

Source: Hormones; June 2019, Vol. 18 Issue: 2 p229-236, 8p