Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 104

1.

Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency.

Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Faisal Ahmed S, Balsamo A, Baronio F, Cannuccia A, Guven A, Guran T, Darendeliler F, Higham C, Bonfig W, de Vries L, Bachega TASS, Miranda MC, Mendonca BB, Iotova V, Korbonits M, Krone NP, Krone R, Lenzi A, Arlt W, Ross RJ, Isidori AM, Tomlinson JW.

J Clin Endocrinol Metab. 2019 Oct 16. pii: dgz055. doi: 10.1210/clinem/dgz055. [Epub ahead of print]

PMID:
31613957
2.

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

Eltan M, Arslan Ates E, Cerit K, Menevse TS, Kaygusuz SB, Eker N, Bagci P, Ergelen R, Turan S, Bereket A, Guran T.

Pediatr Blood Cancer. 2019 Oct 14:e28042. doi: 10.1002/pbc.28042. [Epub ahead of print] No abstract available.

PMID:
31612591
3.

A rare cause of hypertension in childhood: Answers.

Kucuk N, Yavas Abalı Z, Abalı S, Canpolat N, Yesil G, Turan S, Bereket A, Guran T.

Pediatr Nephrol. 2019 Sep 20. doi: 10.1007/s00467-019-04329-0. [Epub ahead of print] No abstract available.

PMID:
31541304
4.

A rare cause of hypertension in childhood: Questions.

Kucuk N, Yavas Abali Z, Abali S, Canpolat N, Yesil G, Turan S, Bereket A, Guran T.

Pediatr Nephrol. 2019 Sep 20. doi: 10.1007/s00467-019-04326-3. [Epub ahead of print] No abstract available.

PMID:
31541303
5.

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.

Yavas Abali Z, Yesil G, Kirkgoz T, Cicek N, Alpay H, Turan S, Bereket A, Guran T.

Pediatr Nephrol. 2019 Sep 16. doi: 10.1007/s00467-019-04352-1. [Epub ahead of print] No abstract available.

PMID:
31529157
6.

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.

Yavas Abali Z, Yesil G, Kirkgoz T, Cicek N, Alpay H, Turan S, Bereket A, Guran T.

Pediatr Nephrol. 2019 Sep 16. doi: 10.1007/s00467-019-04351-2. [Epub ahead of print] No abstract available.

PMID:
31529153
7.

Nationwide Hypophosphatemic Rickets Cohort Study

Şıklar Z, Turan S, Bereket A, Baş F, Güran T, Akberzade A, Abacı A, Demir K, Böber E, Özbek MN, Kara C, Poyrazoğlu Ş, Aydın M, Kardelen A, Tarım Ö, Eren E, Hatipoğlu N, Büyükinan M, Akyürek N, Çetinkaya S, Bayramoğlu E, Selver Eklioğlu B, Uçaktürk A, Abalı S, Gökşen D, Kor Y, Ünal E, Esen İ, Yıldırım R, Akın O, Çayır A, Dilek E, Kırel B, Anık A, Çatlı G, Berberoğlu M.

J Clin Res Pediatr Endocrinol. 2019 Sep 13. doi: 10.4274/jcrpe.galenos.2019.2019.0098. [Epub ahead of print]

8.

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

Eltan M, Yavas Abali Z, Arslan Ates E, Kirkgoz T, Kaygusuz SB, Türkyılmaz A, Bereket A, Turan S, Guran T.

Horm Res Paediatr. 2019 Aug 28:1-7. doi: 10.1159/000502114. [Epub ahead of print]

PMID:
31461705
9.

Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency.

Atay Z, Turan S, Buğdaycı O, Guran T, Bereket A.

Horm Res Paediatr. 2019 Aug 27:1-6. doi: 10.1159/000501456. [Epub ahead of print]

PMID:
31454824
10.

A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.

Polat R, Ustyol A, Tuncez E, Guran T.

J Endocrinol Invest. 2019 Aug 21. doi: 10.1007/s40618-019-01099-2. [Epub ahead of print]

PMID:
31435881
11.

A rare cause of chronic hyponatremia in an infant: Answers.

Mutlu GY, Taşdemir M, Kızılkan NU, Güran T, Hatun Ş, Kayserili H, Bilge I.

Pediatr Nephrol. 2019 Aug 19. doi: 10.1007/s00467-019-04337-0. [Epub ahead of print] No abstract available.

PMID:
31428928
12.

A rare cause of chronic hyponatremia in an infant: Questions.

Mutlu GY, Taşdemir M, Kızılkan NU, Güran T, Hatun Ş, Kayserili H, Bilge I.

Pediatr Nephrol. 2019 Aug 19. doi: 10.1007/s00467-019-04335-2. [Epub ahead of print] No abstract available.

PMID:
31428927
13.

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis".

Ljubicic ML, Jørgensen A, Ribeiro de Andrade JG, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A.

J Clin Endocrinol Metab. 2019 Dec 1;104(12):5812-5813. doi: 10.1210/jc.2019-01413. No abstract available.

PMID:
31276168
14.

Neonatal adrenal insufficiency: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report.

Yiğit Ş, Türkmen M, Tuncer O, Taşkın E, Güran T, Abacı A, Çatlı G, Tarım Ö.

Turk Pediatri Ars. 2018 Dec 25;53(Suppl 1):S239-S243. doi: 10.5152/TurkPediatriArs.2018.01822. eCollection 2018.

15.

Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey.

Aydin BK, Saka N, Bas F, Bas EK, Coban A, Yildirim S, Guran T, Darendeliler F.

J Endocr Soc. 2019 Apr 24;3(6):1185-1195. doi: 10.1210/js.2018-00408. eCollection 2019 Jun 1.

16.

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.

Ljubicic ML, Jørgensen A, Acerini C, Andrade J, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4366-4381. doi: 10.1210/jc.2018-02752.

PMID:
31127831
17.

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248.

PMID:
31042289
18.

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.

Guran T, Yesil G, Turan S, Atay Z, Bozkurtlar E, Aghayev A, Gul S, Tinay I, Aru B, Arslan S, Koroglu MK, Ercan F, Demirel GY, Eren FS, Karademir B, Bereket A.

Eur J Endocrinol. 2019 May 1;180(5):291-309. doi: 10.1530/EJE-19-0067.

PMID:
30893644
19.

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

Abali ZY, Yesil G, Kirkgoz T, Kaygusuz SB, Eltan M, Turan S, Bereket A, Guran T.

Hormones (Athens). 2019 Jun;18(2):229-236. doi: 10.1007/s42000-019-00096-7. Epub 2019 Feb 12. Review.

PMID:
30747411
20.

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA.

J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1.

21.

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Eren E, Törel Ergür A, İşgüven ŞP, Çelebi Bitkin E, Berberoğlu M, Şıklar Z, Baş F, Yel S, Baş S, Söbü E, Bereket A, Turan S, Sağlam H, Atay Z, Ercan O, Güran T, Atabek ME, Korkmaz HA, Kılınç Uğurlu A, Akıncı A, Döğer E, Şimşek E, Akbaş ED, Abacı A, Gül Ü, Acar S, Mengen Uçaktürk E, Yıldız M, Ünal E, Tarım Ö.

J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):149-156. doi: 10.4274/jcrpe.galenos.2018.2018.0206. Epub 2018 Nov 5.

22.

Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism.

Weger M, Weger BD, Görling B, Poschet G, Yildiz M, Hell R, Luy B, Akcay T, Güran T, Dickmeis T, Müller F, Krone N.

EBioMedicine. 2018 Oct;36:376-389. doi: 10.1016/j.ebiom.2018.09.024. Epub 2018 Sep 26.

23.

Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey.

Abacı A, Çatlı G, Kırbıyık Ö, Şahin NM, Abalı ZY, Ünal E, Şıklar Z, Mengen E, Özen S, Güran T, Kara C, Yıldız M, Eren E, Nalbantoğlu Ö, Güven A, Çayır A, Akbaş ED, Kor Y, Çürek Y, Aycan Z, Baş F, Darcan Ş, Berberoğlu M.

J Endocrinol Invest. 2019 Apr;42(4):453-470. doi: 10.1007/s40618-018-0940-y. Epub 2018 Aug 21.

PMID:
30132287
24.

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants

Güran T, Tezel B, Gürbüz F, Selver Eklioğlu B, Hatipoğlu N, Kara C, Şimşek E, Çizmecioğlu FM, Ozon A, Baş F, Aydın M, Darendeliler F.

J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):13-23. doi: 10.4274/jcrpe.galenos.2018.2018.0117. Epub 2018 Aug 14.

25.

Primary adrenal insufficiency in children: Diagnosis and management.

Kirkgoz T, Guran T.

Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):397-424. doi: 10.1016/j.beem.2018.05.010. Epub 2018 Jun 6. Review.

PMID:
30086866
26.

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

Poyrazoğlu Ş, Bundak R, Yavaş Abalı Z, Önal H, Sarıkaya S, Akgün A, Baş S, Abalı S, Bereket A, Eren E, Tarım Ö, Güven A, Yıldız M, Karaman Aksakal D, Yüksel A, Seymen Karabulut G, Hatun Ş, Özgen T, Cesur Y, Azizoğlu M, Dilek E, Tütüncüler F, Papatya Çakır E, Özcabı B, Evliyaoğlu O, Karadeniz S, Dursun F, Bolu S, Arslanoğlu İ, Yeşiltepe Mutlu G, Kırmızıbekmez H, İşgüven P, Üstyol A, Adal E, Uçar A, Cebeci N, Bezen D, Binay Ç, Semiz S, Korkmaz HA, Memioğlu N, Sağsak E, Peltek HN, Yıldız M, Akçay T, Turan S, Güran T, Atay Z, Akcan N, Çizmecioğlu F, Ercan O, Dağdeviren A, Baş F, İşsever H, Darendeliler F.

J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):336-342. doi: 10.4274/jcrpe.0025. Epub 2018 May 23.

27.

Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiency.

Sunter G, Enver EO, Akbarzade A, Turan S, Vatansever P, Gunal DI, Haklar G, Bereket A, Agan K, Guran T.

BMC Neurol. 2018 Apr 23;18(1):48. doi: 10.1186/s12883-018-1049-9.

28.

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA.

Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098.

29.

Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.

Güran T.

J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):9-22. doi: 10.4274/jcrpe.2017.S002. Epub 2017 Dec 27. Review.

30.

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.

Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M; ESR2 STUDY GROUP, Atay Z, Bereket A, de Krijger RR, Preter K, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E.

Genet Med. 2018 Jul;20(7):717-727. doi: 10.1038/gim.2017.163. Epub 2017 Oct 26.

PMID:
29261182
31.

The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience

Haliloğlu B, Abalı S, Buğrul F, Çelik E, Baş S, Atay Z, Güran T, Turan S, Bereket A.

J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):125-130. doi: 10.4274/jcrpe.5204. Epub 2017 Nov 24.

32.

Genetic Disruption of 21-Hydroxylase in Zebrafish Causes Interrenal Hyperplasia.

Eachus H, Zaucker A, Oakes JA, Griffin A, Weger M, Güran T, Taylor A, Harris A, Greenfield A, Quanson JL, Storbeck KH, Cunliffe VT, Müller F, Krone N.

Endocrinology. 2017 Dec 1;158(12):4165-4173. doi: 10.1210/en.2017-00549.

33.

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.

Çetinkaya S, Güran T, Kurnaz E, Keskin M, Sağsak E, Savaş Erdeve S, Suntharalingham JP, Buonocore F, Achermann JC, Aycan Z.

J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):68-73. doi: 10.4274/jcrpe.4638. Epub 2017 Jul 24.

34.

Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.

Savaş-Erdeve Ş, Çetinkaya S, Abalı ZY, Poyrazoğlu Ş, Baş F, Berberoğlu M, Sıklar Z, Korkmaz Ö, Buluş D, Akbaş ED, Güran T, Böber E, Akın O, Yılmaz GC, Aycan Z.

J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):759-766. doi: 10.1515/jpem-2017-0088.

PMID:
28672743
35.

Birth Weight in Different Etiologies of Disorders of Sex Development.

Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N.

J Clin Endocrinol Metab. 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460.

36.

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients.

Aydin BK, Saka N, Bas F, Yilmaz Y, Haliloglu B, Guran T, Turan S, Bereket A, Yesiltepe Mutlu G, Cizmecioglu F, Hatun S, Bezen D, Tutunculer F, Cebeci N, Isguven P, Memioglu N, Ercan O, Poyrazoglu S, Bundak R, Darendeliler F.

J Pediatr Adolesc Gynecol. 2017 Aug;30(4):449-455. doi: 10.1016/j.jpag.2017.01.011. Epub 2017 Feb 3.

PMID:
28167139
37.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA.

J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.

38.

Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females.

Haliloglu B, Gokdemir Y, Atay Z, Abali S, Guran T, Karakoc F, Ersu R, Karadag B, Turan S, Bereket A.

Pediatr Diabetes. 2017 Nov;18(7):607-613. doi: 10.1111/pedi.12470. Epub 2016 Nov 22.

PMID:
27873431
39.

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF.

J Clin Endocrinol Metab. 2016 Nov;101(11):3959-3967. Epub 2016 Jul 12.

40.

GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.

Haliloglu B, Hysenaj G, Atay Z, Guran T, Abalı S, Turan S, Bereket A, Ellard S.

Clin Endocrinol (Oxf). 2016 Sep;85(3):393-9. doi: 10.1111/cen.13121. Epub 2016 Jul 5.

41.

The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study.

Atay Z, Yesilkaya E, Erdeve SS, Turan S, Akin L, Eren E, Doger E, Aycan Z, Abali ZY, Akinci A, Siklar Z, Ozen S, Kara C, Tayfun M, Sari E, Tutunculer F, Karabulut GS, Karaguzel G, Cetinkaya S, Saglam H, Bideci A, Kurtoglu S, Guran T, Bereket A.

J Clin Endocrinol Metab. 2016 May;101(5):1980-8. doi: 10.1210/jc.2015-3500. Epub 2016 Mar 10. Erratum in: J Clin Endocrinol Metab. 2018 May 1;103(5):2075.

PMID:
26964727
42.

Effect of Maternal Factors and Fetomaternal Glucose Homeostasis on Birth Weight and Postnatal Growth.

Özbörü Aşkan Ö, Bozaykut A, Sezer RG, Güran T, Bereket A.

J Clin Res Pediatr Endocrinol. 2015 Sep;7(3):168-74. doi: 10.4274/jcrpe.1914.

43.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

44.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC.

J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2.

45.

Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours.

Haliloglu B, Atay Z, Guran T, Abalı S, Bas S, Turan S, Bereket A.

Pediatr Obes. 2016 Oct;11(5):383-8. doi: 10.1111/ijpo.12076. Epub 2015 Oct 14.

PMID:
26463004
46.

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S.

Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029. Epub 2015 Mar 21.

PMID:
25808063
47.

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR.

J Clin Endocrinol Metab. 2015 May;100(5):E808-14. doi: 10.1210/jc.2015-1150. Epub 2015 Mar 16.

48.

Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.

Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.

Sex Dev. 2015;9(2):91-7.

PMID:
25765894
49.

Premature pubarche, hyperinsulinemia and hypothyroxinemia: novel manifestations of congenital portosystemic shunts (Abernethy malformation) in children.

Bas S, Guran T, Atay Z, Haliloglu B, Abalı S, Turan S, Bereket A.

Horm Res Paediatr. 2015;83(4):282-7. doi: 10.1159/000369395. Epub 2015 Feb 7.

PMID:
25676144
50.

Supplemental Content

Support Center