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Items: 1 to 50 of 76

1.

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A.

Pediatr Neurol. 2019 Oct;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015. Epub 2019 Jun 28.

PMID:
31331668
2.

Risk factors for seizure recurrence in a pediatric observation unit.

Gultekingil A, Teksam O, Haliloglu G, Yalnizoglu D.

Am J Emerg Med. 2019 Jan 25. pii: S0735-6757(19)30060-9. doi: 10.1016/j.ajem.2019.01.042. [Epub ahead of print]

PMID:
30709624
3.

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.

Ardıçlı D, Haliloğlu G, Alikaşifoğlu M, Topaloğlu H.

Neuropediatrics. 2019 Feb;50(1):41-45. doi: 10.1055/s-0038-1675626. Epub 2018 Nov 19.

PMID:
30453357
4.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F.

Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.

PMID:
30215711
5.

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE.

Turk J Pediatr. 2018;60(1):1-9. doi: 10.24953/turkjped.2018.01.001.

6.

Niemann-Pick disease type C in the newborn period: a single-center experience.

Gumus E, Haliloglu G, Karhan AN, Demir H, Gurakan F, Topcu M, Yuce A.

Eur J Pediatr. 2017 Dec;176(12):1669-1676. doi: 10.1007/s00431-017-3020-y. Epub 2017 Sep 27.

PMID:
28951965
7.

Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.

Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G, Alikasifoglu M, Topaloglu H.

Neuropediatrics. 2017 Dec;48(6):477-481. doi: 10.1055/s-0037-1604483. Epub 2017 Aug 11. No abstract available.

PMID:
28800659
8.

Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements.

Haliloglu G, Karaduman A, Topaloglu H.

Neuromuscul Disord. 2017 Oct;27(10):973. doi: 10.1016/j.nmd.2017.06.555. Epub 2017 Jul 3. No abstract available.

PMID:
28711279
9.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G.

Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.

PMID:
28554554
10.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Yiş U, Becker K, Kurul SH, Uyanik G, Bayram E, Haliloğlu G, Polat Aİ, Ayanoğlu M, Okur D, Tosun AF, Serdaroğlu G, Yilmaz S, Topaloğlu H, Anlar B, Cirak S, Engel AG.

J Child Neurol. 2017 Jul;32(8):759-765. doi: 10.1177/0883073817705252. Epub 2017 May 3.

11.

Corrigendum to "Challenges in pediatric chronic inflammatory demyelinating polyneuropathy" [Neuromuscular Disorders 26/12 (2016) 817-824].

Haliloğlu G, Yüksel D, Temoçin CM, Topaloğlu H.

Neuromuscul Disord. 2017 May;27(5):e3. doi: 10.1016/j.nmd.2017.01.005. Epub 2017 Mar 7. No abstract available.

PMID:
28283332
12.

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.

Ardicli D, Gocmen R, Talim B, Sprute R, Haliloglu G, Cirak S, Topaloglu H.

Neuromuscul Disord. 2017 Mar;27(3):239-242. doi: 10.1016/j.nmd.2016.12.008. Epub 2016 Dec 23.

PMID:
28109637
13.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

Haliloglu G, Becker K, Temucin C, Talim B, Küçükşahin N, Pergande M, Motameny S, Nürnberg P, Aydingoz U, Topaloglu H, Cirak S.

J Hum Genet. 2017 Apr;62(4):497-501. doi: 10.1038/jhg.2016.153. Epub 2016 Dec 15.

PMID:
27974811
14.

Challenges in pediatric chronic inflammatory demyelinating polyneuropathy.

Haliloğlu G, Yüksel D, Temoçin CM, Topaloğlu H.

Neuromuscul Disord. 2016 Dec;26(12):817-824. doi: 10.1016/j.nmd.2016.09.016. Epub 2016 Sep 22. Erratum in: Neuromuscul Disord. 2017 May;27(5):e3.

PMID:
27793469
15.

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment.

Yildiz Y, Pektas E, Tokatli A, Haliloglu G.

Neuropediatrics. 2017 Feb;48(1):49-52. doi: 10.1055/s-0036-1593372. Epub 2016 Sep 30.

PMID:
27690368
16.

Childhood Epilepsy with Occipital Paroxysm: Classification, Atypical Evolution and Long-Term Prognosis in 35 Patients.

Aksoy A, Haliloğlu G, Yalnızoğlu D, Turanlı G.

Turk J Pediatr. 2015 Sep-Oct;57(5):439-52.

PMID:
27411410
17.

Susceptibility-Weighted Magnetic Resonance Imaging Findings of Two Pediatric Migraine Patients with Aura.

Gocmen R, Gunbey C, Arsava EM, Oguz KK, Haliloglu G.

Neuropediatrics. 2016 Jan;47(1):46-50. doi: 10.1055/s-0035-1570322. Epub 2015 Dec 30.

PMID:
26717554
18.

Conventional and advanced MR imaging in infantile Refsum disease.

Kılıç M, Karlı-Oğuz K, Haliloğlu G, Topçu M, Wanders RJ, Coşkun T.

Turk J Pediatr. 2015 May-Jun;57(3):294-9.

PMID:
26701952
19.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G.

Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0.

21.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

22.

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Haliloglu G, Talim B, Sel CG, Topaloglu H.

J Inherit Metab Dis. 2015 Nov;38(6):1099-108. doi: 10.1007/s10545-015-9856-2. Epub 2015 Jun 12.

PMID:
26067811
23.

Acute Abducens Nerve Paralysis in the Pediatric Emergency Department: Analysis of 14 Patients.

Teksam O, Keser AG, Konuskan B, Haliloglu G, Oguz KK, Yalnizoglu D.

Pediatr Emerg Care. 2016 May;32(5):307-11. doi: 10.1097/PEC.0000000000000366.

PMID:
25806679
24.

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Haliloglu G, Maluenda J, Sayinbatur B, Aumont C, Temucin C, Tavil B, Cetin M, Oguz KK, Gut I, Picard V, Melki J, Topaloglu H.

Neurology. 2015 Mar 24;84(12):1220-4. doi: 10.1212/WNL.0000000000001391. Epub 2015 Feb 25.

PMID:
25716358
25.

The role of electrocardiography in the diagnosis of spinal muscular atrophy type III.

Haliloglu G, Gungor M, Anlar B.

J Pediatr. 2015 Apr;166(4):1092. doi: 10.1016/j.jpeds.2014.12.056. Epub 2015 Feb 4. No abstract available.

PMID:
25661413
26.

Wernicke encephalopathy due to thiamine deficiency after surgery on a child with duodenal stenosis.

Arslan EA, Ekinci S, Akkuş PZ, Göçmen R, Haliloğlu G.

Pediatr Neurol. 2014 Dec;51(6):840-2. doi: 10.1016/j.pediatrneurol.2014.08.034. Epub 2014 Sep 4.

PMID:
25303868
27.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

28.

Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants.

Cak HT, Haliloğlu G, Düzgün G, Yüce A, Topçu M.

Eur J Paediatr Neurol. 2014 Nov;18(6):811-5. doi: 10.1016/j.ejpn.2014.07.009. Epub 2014 Aug 6.

PMID:
25139345
29.

Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?

Sag E, Sen HS, Haliloglu G, Yalcin B, Kutluk T.

J Child Neurol. 2015 Jul;30(8):1075-8. doi: 10.1177/0883073814542950. Epub 2014 Aug 14.

PMID:
25123529
30.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.

Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.

31.

Etiological yield of SNP microarrays in idiopathic intellectual disability.

Utine GE, Haliloğlu G, Volkan-Salancı B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktaş D, Anlar B, Topçu M, Boduroğlu K, Alikaşifoğlu M.

Eur J Paediatr Neurol. 2014 May;18(3):327-37. doi: 10.1016/j.ejpn.2014.01.004. Epub 2014 Jan 25.

PMID:
24508361
32.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A.

Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7.

33.

Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome.

Utine GE, Akpınar B, Arslan U, Kiper PÖ, Volkan-Salancı B, Alanay Y, Aktaş D, Haliloğlu G, Oğuz KK, Boduroğlu K, Alikaşifoğlu M.

Am J Med Genet A. 2014 Jan;164A(1):99-105. doi: 10.1002/ajmg.a.36207. Epub 2013 Nov 20.

PMID:
24259304
34.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.

35.

Arthrogryposis and fetal hypomobility syndrome.

Haliloglu G, Topaloglu H.

Handb Clin Neurol. 2013;113:1311-9. doi: 10.1016/B978-0-444-59565-2.00003-4. Review.

PMID:
23622356
36.

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

Utine GE, Haliloğlu G, Salanci B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktas D, Boduroğlu K, Alikaşifoğlu M.

J Child Neurol. 2013 Jul;28(7):926-32. doi: 10.1177/0883073813484967. Epub 2013 Apr 22.

PMID:
23611888
37.

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, Dolgun A, Alikasifoglu M.

AJNR Am J Neuroradiol. 2013 Oct;34(10):1952-7. doi: 10.3174/ajnr.A3488. Epub 2013 Apr 18.

38.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.

39.

Double trouble: Duchenne muscular dystrophy and hemophilia.

Gokce M, Gümrük F, Haliloğlu G, Serdaroğlu E, Cağlayan H.

Pediatr Blood Cancer. 2013 Mar;60(3):525. doi: 10.1002/pbc.24376. Epub 2012 Dec 19. No abstract available.

PMID:
23255221
40.

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

Kılıç E, Utine E, Unal S, Haliloğlu G, Oğuz KK, Cetin M, Boduroğlu K, Alanay Y.

Eur J Pediatr. 2012 Oct;171(10):1567-71. Epub 2012 Apr 17.

PMID:
22527565
41.

Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.

Utine GE, Kiper PO, Alanay Y, Haliloğlu G, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M.

Mol Syndromol. 2012 Jan;2(2):64-71. Epub 2011 Nov 22.

42.

Additional diverse findings expand the clinical presentation of DOCK8 deficiency.

Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC.

J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4.

43.

When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.

Haliloğlu G, Vezir E, Baydar L, Onol S, Sivri S, Coşkun T, Topçu M.

Turk J Pediatr. 2012 Jan-Feb;54(1):52-8.

PMID:
22397043
44.

Hypertrophic olivary degeneration in children: four new cases and a review of the literature with an emphasis on the MRI findings.

Sanverdi SE, Oguz KK, Haliloglu G.

Br J Radiol. 2012 May;85(1013):511-6. doi: 10.1259/bjr/60727602. Epub 2012 Feb 14. Review.

45.

Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report.

Yilmaz O, Alemdaroğlu I, Karaduman A, Haliloğlu G, Topaloğlu H.

Turk J Pediatr. 2011 Jul-Aug;53(4):471-6.

PMID:
21980856
46.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
47.

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ.

Turk J Pediatr. 2009 Nov-Dec;51(6):587-92.

PMID:
20196394
48.

Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.

Senocak EU, Oğuz KK, Haliloğlu G, Topçu M, Cila A.

Diagn Interv Radiol. 2010 Mar;16(1):3-6. doi: 10.4261/1305-3825.DIR.2673-09.1. Epub 2010 Jan 27.

49.

Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?

Kara OK, Mutlu A, Gunel MK, Haliloglu G.

BMJ Case Rep. 2010 Dec 29;2010. pii: bcr0620103081. doi: 10.1136/bcr.06.2010.3081.

50.

Pseudopapilledema in a pediatric kidney transplant recipient.

Bilginer Y, Haliloglu G, Kadayıfçılar S, Bakkaloglu A, Besbas N.

Pediatr Transplant. 2010 Nov;14(7):E83-5. doi: 10.1111/j.1399-3046.2009.01165.x. Epub 2010 Aug 5.

PMID:
19413713

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