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Items: 1 to 50 of 130

1.

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Akgun-Dogan O, Simsek-Kiper PO, Taskiran E, Lissewski C, Brinkmann J, Schanze D, Göçmen R, Cagdas D, Bilginer Y, Utine GE, Zenker M, Ozen S, Tezcan İ, Alikasifoglu M, Boduroğlu K.

Am J Med Genet A. 2019 Dec;179(12):2474-2480. doi: 10.1002/ajmg.a.61363. Epub 2019 Oct 4.

PMID:
31584751
2.

Café noir spots: a feature of familial progressive hyper- and hypopigmentation.

Gülseren D, Güleray N, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine EG, Alikaşifoğlu M, Ersoy-Evans S.

J Eur Acad Dermatol Venereol. 2019 Sep 30. doi: 10.1111/jdv.15968. [Epub ahead of print] No abstract available.

PMID:
31571311
3.

Clock gene PERIOD3 polymorphism is associated with susceptibility to Graves' disease but not to Hashimoto's thyroiditis.

Helvaci N, Oguz SH, Kabacam S, Karabulut E, Akbiyik F, Alikasifoglu M, Gurlek A.

Chronobiol Int. 2019 Oct;36(10):1343-1350. doi: 10.1080/07420528.2019.1642909. Epub 2019 Jul 22.

PMID:
31328557
4.

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N, Kosukcu C, Taskiran ZE, Simsek Kiper PO, Utine GE, Gucer S, Tokatli A, Boduroglu K, Alikasifoglu M.

Fetal Pediatr Pathol. 2019 Jul 15:1-9. doi: 10.1080/15513815.2019.1639089. [Epub ahead of print]

PMID:
31303091
5.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.

PMID:
31256877
6.

The Relationship between the Waist Circumference and Increased Carotid Intima Thickness in Obese Children.

Sönmez HE, Canpolat N, Ağbaş A, Taşdemir M, Ekmekçi ÖB, Alikaşifoğlu M, Sever L, Çalışkan S.

Child Obes. 2019 Oct;15(7):468-475. doi: 10.1089/chi.2019.0022. Epub 2019 Jun 27.

PMID:
31246513
7.

A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17.

Sendur SN, Oguz S, Utine GE, Dagdelen S, Oguz KK, Erbas T, Alikasifoglu M.

Eur J Med Genet. 2019 Aug;62(8):103687. doi: 10.1016/j.ejmg.2019.103687. Epub 2019 May 29.

PMID:
31152917
8.

Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis.

Nemutlu E, Orgul G, Recber T, Aydin E, Ozkan E, Turgal M, Alikasifoglu M, Kir S, Beksac MS.

Z Geburtshilfe Neonatol. 2019 Oct;223(5):297-303. doi: 10.1055/a-0877-7869. Epub 2019 May 27.

PMID:
31132797
9.

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K.

Am J Med Genet A. 2019 Jul;179(7):1157-1172. doi: 10.1002/ajmg.a.61154. Epub 2019 Apr 13.

PMID:
30980518
10.

An eight-case 1q21 region series: novel aberrations and clinical variability with new features.

Ceylan AC, Sahin I, Erdem HB, Kayhan G, Simsek-Kiper PO, Utine GE, Percin F, Boduroglu K, Alikasifoglu M.

J Intellect Disabil Res. 2019 Jun;63(6):548-557. doi: 10.1111/jir.12592. Epub 2019 Feb 18.

PMID:
30773728
11.

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Taskiran EZ, Sonmez HE, Kosukcu C, Tavukcuoglu E, Yazici G, Esendagli G, Batu ED, Kiper POS, Bilginer Y, Alikasifoglu M, Ozen S.

J Clin Immunol. 2019 Jan;39(1):99-105. doi: 10.1007/s10875-018-0587-7. Epub 2019 Jan 8.

PMID:
30617623
12.

Glycemic control and health behaviors in adolescents with type 1 diabetes.

Yetim A, Alikaşifoğlu M, Baş F, Eliaçık K, Çığ G, Erginöz E, Ercan O, Bundak R.

Turk J Pediatr. 2018;60(3):244-254. doi: 10.24953/turkjped.2018.03.003.

13.

Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M.

Eur J Med Genet. 2019 Nov;62(11):103585. doi: 10.1016/j.ejmg.2018.11.019. Epub 2018 Nov 27.

PMID:
30496831
14.

Overview of breastfeeding in Turkey in consideration of World Breastfeeding Week.

Alikaşifoğlu M.

Turk Pediatri Ars. 2018 Sep 1;53(3):133. doi: 10.5152/TurkPediatriArs.2018.51515. eCollection 2018 Sep. No abstract available.

15.

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
16.

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Akgün Doğan Ö, Demir GÜ, Kosukcu C, Taskiran EZ, Simsek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K.

Eur J Med Genet. 2019 Jun;62(6):103535. doi: 10.1016/j.ejmg.2018.09.002. Epub 2018 Sep 11.

PMID:
30217754
17.

Genetic testing for DADA2: How can we avoid missing patients?

Sönmez HE, Batu ED, Taşkıran EZ, Alikaşifoğlu M, Bilginer Y, Özen S.

Eur J Hum Genet. 2018 Nov;26(11):1563-1565. doi: 10.1038/s41431-018-0240-1. Epub 2018 Sep 11. No abstract available.

18.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M.

Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.

PMID:
30063090
19.

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

Batu ED, Koşukcu C, Taşkıran E, Sahin S, Akman S, Sözeri B, Ünsal E, Bilginer Y, Kasapcopur O, Alikaşifoğlu M, Ozen S.

J Rheumatol. 2018 Dec;45(12):1671-1679. doi: 10.3899/jrheum.171358. Epub 2018 Jul 15.

PMID:
30008451
20.

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K.

Eur J Med Genet. 2019 Jan;62(1):21-26. doi: 10.1016/j.ejmg.2018.04.013. Epub 2018 Apr 25.

PMID:
29704686
21.

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

Utine GE, Şimşek-Kiper PÖ, Akgün-Doğan Ö, Ürel-Demir G, Alanay Y, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M.

Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:76-80. doi: 10.1016/j.ejogrb.2017.12.028. Epub 2017 Dec 16.

PMID:
29275276
22.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Ürel Demir G, Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Boduroğlu K, Gucer S, Alikaşifoğlu M.

Fetal Pediatr Pathol. 2017 Dec;36(6):445-451. doi: 10.1080/15513815.2017.1379039. Epub 2017 Dec 8.

PMID:
29220612
23.

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.

Akgün Doğan Ö, Ürel Demir G, Arslan U, Şimşek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K.

Am J Perinatol. 2018 Apr;35(5):427-433. doi: 10.1055/s-0037-1608632. Epub 2017 Nov 7.

PMID:
29112995
24.

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.

Taşkıran EZ, Sönmez HE, Ayvaz DÇ, Koşukcu C, Batu ED, Esenboğa S, Topaloğlu R, Orhan D, Bilginer Y, Alikaşifoğlu M, Özen S, Tezcan İ.

Clin Immunol. 2018 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7. No abstract available.

PMID:
29107076
25.

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M.

Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8.

PMID:
28988429
26.

Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.

Akin S, Noyan S, Dagdelen S, Pasaoglu I, Kaynaroglu V, Askun MM, Bilen CY, Kiratli H, Baydar DE, Onder S, Sokmensuer C, Aytemir K, Erkin G, Kiratli PO, Alikasifoglu M, Erbas T.

Neuro Endocrinol Lett. 2017 Aug;38(4):248-254.

PMID:
28871709
27.

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.

Topçu M, Aktas D, Öztoprak M, Mungan NÖ, Yuce A, Alikasifoglu M.

Mol Diagn Ther. 2017 Dec;21(6):643-651. doi: 10.1007/s40291-017-0293-9.

PMID:
28808920
28.

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
29.

Association between ACE and AGT polymorphism and cardiovascular risk in acromegalic patients.

Erbas T, Cinar N, Dagdelen S, Gedik A, Yorgun H, Canpolat U, Kabakci G, Alikasifoglu M.

Pituitary. 2017 Oct;20(5):569-577. doi: 10.1007/s11102-017-0819-5.

PMID:
28712073
30.

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K.

Korean J Fam Med. 2017 Mar;38(2):102-105. doi: 10.4082/kjfm.2017.38.2.102. Epub 2017 Mar 22.

31.

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.

Sonmez FM, Uctepe E, Aktas D, Alikasifoglu M.

Intractable Rare Dis Res. 2017 Feb;6(1):61-64. doi: 10.5582/irdr.2016.01075.

32.

HERC1 mutations in idiopathic intellectual disability.

Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M.

Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18.

PMID:
28323226
33.

The Relationship of Disordered Eating Attitudes with Stress Level, Bone Turnover Markers, and Bone Mineral Density in Obese Adolescents.

Okbay Güneş A, Alikaşifoğlu M, Şen Demirdöğen E, Erginöz E, Demir T, Kucur M, Ercan O.

J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):237-245. doi: 10.4274/jcrpe.3794. Epub 2017 Feb 15.

34.

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.

Taylan Şekeroğlu H, Utine GE, Alikaşifoğlu M.

Turk J Ophthalmol. 2016 Dec;46(6):299-300. doi: 10.4274/tjo.59375. Epub 2016 Dec 1. No abstract available.

35.

Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.

Çetinkaya A, Taşkıran E, Soyer T, Şimşek-Kiper PÖ, Utine GE, Tunçbilek G, Boduroğlu K, Alikaşifoğlu M.

Turk J Pediatr. 2017;59(6):619-624. doi: 10.24953/turkjped.2017.06.001.

36.

A novel missense mutation of the GRK1 gene in Oguchi disease.

Teke MY, Citirik M, Kabacam S, Demircan S, Alikasifoglu M.

Mol Med Rep. 2016 Oct;14(4):3129-33. doi: 10.3892/mmr.2016.5620. Epub 2016 Aug 9.

37.

Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases.

Unal D, Unal MF, Alikasifoglu M, Cetinkaya A.

Psychiatry Investig. 2016 Jul;13(4):427-33. doi: 10.4306/pi.2016.13.4.427. Epub 2016 Jul 25.

38.

Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study.

Aydın-Son Y, Batu ED, Demirkaya E, Bilginer Y, Kasapçopur Ö, Ünsal E, Alikaşifoglu M, Özen S.

Turk J Pediatr. 2015 Jul-Aug;57(4):324-33.

PMID:
27186693
39.

Health behaviors in high school students in İzmir, Turkey.

Çavdar S, Sümer EÇ, Eliaçık K, Arslan A, Koyun B, Korkmaz N, Kanık A, Erginöz E, Ercan O, Alikaşifoğlu M.

Turk Pediatri Ars. 2016 Mar 1;51(1):22-34. doi: 10.5152/TurkPediatriArs.2016.3389. eCollection 2016 Mar.

40.

TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.

Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez FM.

Genet Couns. 2016;27(3):357-365.

PMID:
30204964
41.

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.

42.

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

Batu ED, Karadag O, Taskiran EZ, Kalyoncu U, Aksentijevich I, Alikasifoglu M, Özen S.

J Rheumatol. 2015 Aug;42(8):1532-4. doi: 10.3899/jrheum.150024. No abstract available.

PMID:
26233953
43.

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.

Kılıç E, Ertuğrul İ, Özer S, Alikaşifoğlu M, Aktaş D, Boduroğlu K, Ütine GE.

Turk J Pediatr. 2014 Sep-Oct;56(5):542-5.

PMID:
26022593
44.

Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families.

Simsek-Kiper PO, Utine GE, Volkan-Salanci B, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K, Tuncbilek E.

Genet Couns. 2014;25(1):53-62.

PMID:
24783656
45.

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
46.

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
47.

Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects.

Sahiner UM, Alanay Y, Alehan D, Tuncbilek E, Alikasifoglu M.

Pediatr Int. 2014 Apr;56(2):167-72. doi: 10.1111/ped.12222. Epub 2014 Jan 28.

PMID:
24112451
48.

Gender Identity and Gender Role in DSD Patients Raised as Females: A Preliminary Outcome Study.

Ercan O, Kutlug S, Uysal O, Alikasifoglu M, Inceoglu D.

Front Endocrinol (Lausanne). 2013 Jul 15;4:86. doi: 10.3389/fendo.2013.00086. eCollection 2013.

49.

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
50.

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.

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