Aslihan Tolun

Aslihan Tolun

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Aslihan Tolun

Publications by authors named "Aslihan Tolun"

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FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Clin Genet 2019 Nov 6;96(5):456-460. Epub 2019 Aug 6.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/cge.13612DOI Listing
November 2019

A Novel Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

Turk J Haematol 2019 02 26;36(1):29-36. Epub 2018 Nov 26.

İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey

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http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373508PMC
February 2019

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Hum Mutat 2018 10 22;39(10):1344-1348. Epub 2018 Aug 22.

Department of Medical Genetics, Uludağ University, Bursa, Turkey.

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http://dx.doi.org/10.1002/humu.23601DOI Listing
October 2018

Homozygous mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

J Med Genet 2018 07 7;55(7):489-496. Epub 2018 Mar 7.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1136/jmedgenet-2017-105003DOI Listing
July 2018

Gene Defects in Familial Form of Juvenile Arthritis.

J Rheumatol 2018 05;45(5):726-728

Molecular Biology, Biotechnology and Genetics Department, Dr. Orhan Öcalgiray Molecular Biology-Biotechnology and Genetics Research Centre, Graduate School of Science, Engineering and Technology, Istanbul Technical University, and Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey.

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http://dx.doi.org/10.3899/jrheum.170834DOI Listing
May 2018

Homozygous mutation in a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

J Med Genet 2018 03 10;55(3):189-197. Epub 2017 Nov 10.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104758
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http://dx.doi.org/10.1136/jmedgenet-2017-104758DOI Listing
March 2018

Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF.

Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):75-81. Epub 2017 Oct 27.

Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Faculty of Medicine, Istanbul University, Turkey.

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February 2018

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Am J Med Genet A 2017 Sep 21;173(9):2494-2499. Epub 2017 Jun 21.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.38332DOI Listing
September 2017

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Eur J Med Genet 2017 May 14;60(5):268-274. Epub 2017 Mar 14.

Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.004DOI Listing
May 2017

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.

Neurology 2016 Aug 20;87(8):799-805. Epub 2016 Jul 20.

From the Department of Neurology (H.D., F.D., Y.P., P.S.-O.), Faculty of Medicine, Istanbul University; Department of Molecular Biology and Genetics (Ö.A., A.T.), Boğaziçi University, Istanbul, Turkey; Children's National Medical Center (S.Ç.), Research Center for Genetic Medicine, Washington, DC; Department of Pediatrics, Institute for Human Genetics, and Center for Molecular Medicine, University Hospital Cologne; Institute of Clinical Molecular Biology (A.F., G.H.-S.), Christian-Albrechts-University of Kiel; Institute of Biochemistry (N.E., S.H.), Institute of Neuropathology (F.C., R.S.), and Department of Ophthalmology (U.S.-S.), Friedrich-Alexander-University of Erlangen-Nuremberg; and Center for Biochemistry, Institute of Biochemistry I, Medical Faculty (C.S.C.), University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003004DOI Listing
August 2016

A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?

Autophagy 2016 07 22;12(7):1208-9. Epub 2016 Apr 22.

h Life Sciences Institute, University of Michigan , Ann Arbor , MI , USA.

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http://dx.doi.org/10.1080/15548627.2016.1170266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990986PMC
July 2016

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Am J Med Genet A 2015 Dec 3;167A(12):3148-52. Epub 2015 Sep 3.

Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.37299DOI Listing
December 2015

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

Neuromuscul Disord 2015 Apr 26;25(4):340-4. Epub 2015 Jan 26.

Boğaziçi University, Department of Molecular Biology and Genetics, KP 301, Bebek, Istanbul 34342, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.01.007DOI Listing
April 2015

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

Mod Rheumatol 2015 Mar 18;25(2):315-21. Epub 2014 Feb 18.

Department of Rheumatology-Immunology, Çukurova University Faculty of Medicine, Balcalı Hospital , Sarıçam , Turkey.

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http://dx.doi.org/10.3109/14397595.2013.874757DOI Listing
March 2015

Novel recessive cone-rod dystrophy caused by POC1B mutation.

JAMA Ophthalmol 2014 Oct;132(10):1185-91

Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.1658DOI Listing
October 2014

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.

J Med Genet 2014 Apr 15;51(4):239-44. Epub 2014 Jan 15.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1136/jmedgenet-2013-102102DOI Listing
April 2014

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.

Eur J Hum Genet 2014 Mar 17;22(3):333-7. Epub 2013 Jul 17.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1038/ejhg.2013.138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925266PMC
March 2014

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

BMC Med Genet 2014 Jan 16;15:10. Epub 2014 Jan 16.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1186/1471-2350-15-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898029PMC
January 2014

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

J Med Genet 2013 Aug 7;50(8):515-20. Epub 2013 Jun 7.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1136/jmedgenet-2013-101634DOI Listing
August 2013

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Parkinsonism Relat Disord 2013 Mar 2;19(3):320-4. Epub 2012 Dec 2.

Boğaziçi University, Department of Molecular Biology and Genetics, KP 301, Bebek, 34342 Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.parkreldis.2012.11.006DOI Listing
March 2013

TBC1D24 truncating mutation resulting in severe neurodegeneration.

J Med Genet 2013 Mar 23;50(3):199-202. Epub 2013 Jan 23.

Department of Molecular Biology and Genetics, Boğaziçi University, KP 301, Bebek, Istanbul 34342, Turkey.

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http://dx.doi.org/10.1136/jmedgenet-2012-101313DOI Listing
March 2013

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Neurogenetics 2012 Aug 15;13(3):189-94. Epub 2012 Apr 15.

Department of Molecular Biology and Genetics, Boğaziçi University, KP 301, Bebek, 34342 Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10048-012-0326-9DOI Listing
August 2012

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

Parkinsonism Relat Disord 2012 Feb 21;18(2):191-3. Epub 2011 Oct 21.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34390, Turkey.

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http://dx.doi.org/10.1016/j.parkreldis.2011.10.001DOI Listing
February 2012

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.

Hum Mol Genet 2011 May 17;20(10):1886-92. Epub 2011 Feb 17.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul 34342, Turkey.

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http://dx.doi.org/10.1093/hmg/ddr070DOI Listing
May 2011

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.

Am J Med Genet A 2011 Jan 9;155A(1):134-40. Epub 2010 Dec 9.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33747DOI Listing
January 2011

Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.

J Neurogenet 2010 Dec;24(4):207-15

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.3109/01677063.2010.514368DOI Listing
December 2010

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Eur J Hum Genet 2010 Oct 2;18(10):1121-6. Epub 2010 Jun 2.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1038/ejhg.2010.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987461PMC
October 2010

Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.

Clin Dysmorphol 2010 Jul;19(3):107-18

The First Department of Paediatrics and Adolescent Medicine, Children University Hospital, Safarik University Medical School, Kosice, Slovakia.

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https://insights.ovid.com/crossref?an=00019605-201007000-000
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http://dx.doi.org/10.1097/MCD.0b013e32833946e9DOI Listing
July 2010

Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein.

J Cell Sci 2010 Jul 15;123(Pt 14):2391-401. Epub 2010 Jun 15.

Centre de Recherche en Cancérologie de Marseille, UMR 891 INSERM, F-13009 Marseille, France.

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http://dx.doi.org/10.1242/jcs.065045DOI Listing
July 2010

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

Neurogenetics 2009 Oct 5;10(4):325-31. Epub 2009 May 5.

Department of Molecular Biology and Genetics, KP 301, Boğaziçi University, Bebek, 34342, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10048-009-0191-3DOI Listing
October 2009

Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus.

Pediatr Int 2008 Oct;50(5):703-5

Department of Pediatric Neurology, Faculty of Medicine, Firat University, Elazig, Turkey.

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http://dx.doi.org/10.1111/j.1442-200X.2008.02712.xDOI Listing
October 2008

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.

Hum Mol Genet 2008 Sep 30;17(17):2644-53. Epub 2008 May 30.

Department of Molecular Biology and Genetics, Boaziçi University, Istanbul 34342, Turkey.

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http://dx.doi.org/10.1093/hmg/ddn164DOI Listing
September 2008

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

Eur J Hum Genet 2008 Feb 10;16(2):261-4. Epub 2007 Oct 10.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1038/sj.ejhg.5201935DOI Listing
February 2008

Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.

J Child Neurol 2006 Apr;21(4):333-7

Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

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http://journals.sagepub.com/doi/10.1177/08830738060210041601
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http://dx.doi.org/10.1177/08830738060210041601DOI Listing
April 2006

Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.

Neuromuscul Disord 2004 Jan;14(1):4-9

Department of Molecular Biology and Genetics, Bogaziçi University, Bebek 34342, Istanbul, Turkey.

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http://dx.doi.org/10.1016/s0960-8966(03)00163-9DOI Listing
January 2004

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Eur J Hum Genet 2003 Nov;11(11):851-7

Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1038/sj.ejhg.5201057DOI Listing
November 2003