Banu Nur

Banu Nur

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Banu Nur

Banu Nur

Publications by authors named "Banu Nur"

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 Jan 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
January 2020

Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.

Am J Med Genet A 2019 Nov 28;179(11):2241-2245. Epub 2019 Jul 28.

Department of Medical Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.61311DOI Listing
November 2019

Recent Advances in Craniosynostosis.

Pediatr Neurol 2019 10 2;99:7-15. Epub 2019 Feb 2.

Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.01.018DOI Listing
October 2019

Mongolian spots combined with halo-like disappearance surrounding café au lait spots.

Indian J Dermatol Venereol Leprol 2018 Jul-Aug;84(4):474-477

Department of Dermatology and Venereology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_383_17DOI Listing
November 2018

Early postoperative follow-up after craniosynostosis surgery

Turk J Med Sci 2018 Jun 14;48(3):584-591. Epub 2018 Jun 14.

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http://dx.doi.org/10.3906/sag-1711-29DOI Listing
June 2018

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Neuromuscul Disord 2017 Oct 1;27(10):923-930. Epub 2017 Jun 1.

Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.nmd.2017.05.015DOI Listing
October 2017

Celiac disease in patients with Williams-Beuren syndrome.

Turk J Pediatr 2015 Nov-Dec;57(6):599-604

Divisions of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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September 2017

Bone mineral density in patients with mucopolysaccharidosis type III.

J Bone Miner Metab 2017 May 18;35(3):338-343. Epub 2016 May 18.

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.1007/s00774-016-0762-yDOI Listing
May 2017

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

J Clin Endocrinol Metab 2016 07 4;101(7):2759-67. Epub 2016 May 4.

Department of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1210/jc.2016-1005DOI Listing
July 2016

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.

Turk J Pediatr 2014 Jul-Aug;56(4):418-22

Division of Pediatric Genetics, Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey.

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March 2016

Bilateral congenital cataracts in an infant with Klinefelter syndrome.

Turk J Pediatr 2014 Sep-Oct;56(5):546-50

Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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March 2016

A familial interstitial 4q35 deletion with no discernible clinical effects.

Am J Med Genet A 2015 Aug 5;167A(8):1836-41. Epub 2015 Apr 5.

Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.37097
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http://dx.doi.org/10.1002/ajmg.a.37097DOI Listing
August 2015

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.

Eur J Med Genet 2015 Apr 14;58(4):238-42. Epub 2015 Feb 14.

Akdeniz University School of Medicine, Department of Pediatric Genetics, 07059 Antalya, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.011DOI Listing
April 2015

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2015 Apr 3;167A(4):919-21. Epub 2015 Mar 3.

Faculty of Medicine, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36955DOI Listing
April 2015

The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation.

Turk J Pediatr 2013 Sep-Oct;55(5):559-63

Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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January 2015

Epidural capillary hemangioma: A review of the literature.

Clin Neurol Neurosurg 2014 Nov 30;126:99-102. Epub 2014 Aug 30.

Department of Pediatric Neurology, Akdeniz University Medical Faculty, Antalya, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2014.08.026DOI Listing
November 2014

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

Pediatr Neurol 2014 May 11;50(5):482-90. Epub 2014 Jan 11.

Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.023DOI Listing
May 2014

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Am J Med Genet A 2013 Sep 2;161A(9):2311-5. Epub 2013 Aug 2.

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36051DOI Listing
September 2013

Interleukin-6 gene polymorphism in febrile seizures.

Pediatr Neurol 2012 Jan;46(1):36-8

Department of Pediatrics, Antalya Education and Research Hospital, Antalya, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.10.008DOI Listing
January 2012