List of works - Aslihan Tolun

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

scientific article published on 26 November 2018

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

scientific article published on 10 October 2007

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

scientific article published on 17 February 2011

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

scientific article published in October 1996

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

scientific article published on July 17, 2013

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

scientific article published on 18 February 2014

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

scientific article

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

scientific article published on 22 April 2016

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

scientific article

Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.

scientific article published in October 1986

Ataxia-telangiectasia: linkage analysis of chromosome 11q22-23 markers in Turkish families

scientific article published on 01 July 1992

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

scientific article published on 31 July 2020

Carrier detection by DNA analysis in Duchenne muscular dystrophy families

scientific article published on 01 April 1992

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

scientific article published on 14 March 2017

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

scientific journal article

DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA.

scientific article published in January 2015

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families

scientific article published on 01 August 1992

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

scientific article published on 2 December 2012

Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians

scientific article published on 01 January 2000

Dinucleotide repeat polymorphism at 11q23

scientific article published on 01 July 1994

Dinucleotide repeat polymorphism at the NCAM locus

scientific article published on 01 May 1994

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

scientific article published in December 2010

Evidence for the presence of muscarinic M2 and M4 receptors in guinea-pig gallbladder smooth muscle

scientific article published on 01 August 1998

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

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

scientific article published on 06 August 2019

From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks

article

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

scientific article published in April 2000

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

scientific article published on 07 March 2018

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

scientific article published on 26 January 2015

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

scientific article published on 10 August 2020

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

scientific article published on 10 November 2017

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

scientific article published on 01 January 2004

Identification of a one-basepair deletion in exon 6 of the dystrophin gene

scientific article published on 01 January 1995

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

scientific article

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

scientific article published on 09 June 2022

LACC1 Gene Defects in Familial Form of Juvenile Arthritis

scientific article published on 01 May 2018

Large-scale recent expansion of European patrilineages shown by population resequencing

scientific article (publication date: 19 May 2015)

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

scientific article published on 26 March 2018

Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium ⬇️

scientific article published on December 1, 1991

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

scientific article published on 26 January 2016

Nature of the single-stranded DNA in replicating adenovirus type 5 DNA ⬇️

scientific article published on November 1, 1976

Novel recessive cone-rod dystrophy caused by POC1B mutation.

scientific article published in October 2014

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.

scientific article published on 27 October 2017

P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis.

scientific article

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

scientific article

Purification of RNA-DNA hybrids by exclusion chromatography ⬇️

scientific article published on August 25, 1979

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

scientific article

Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism ⬇️

scientific article published on June 7, 2013

Repair of Radiation-Induced Strand Breaks as Related to the Inducible Inhibitor of Postirradiation DNA Degradation ⬇️

scientific article published on September 1, 1974

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

scientific article published on 22 August 2018

Separation of the minimal replication region of the F plasmid into a replication origin segment and a trans-acting segment

scientific article published on 01 January 1982

Sequence of inverted terminal repetitions from different adenoviruses: Demonstration of conserved sequences and homology between SA7 termini and SV40 DNA

scientific article published on July 1, 1979

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

scientific article published in April 2006

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

scientific article published on 4 January 2017

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

TBC1D24 truncating mutation resulting in severe neurodegeneration.

scientific article

Termination sites for adenovirus type 2 DNA replication ⬇️

scientific article published on October 1, 1975

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

scientific article

The molecular basis of beta-thalassemia in Turkey

scientific article published on 01 May 1992

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

scientific article published on 09 December 2010

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia

scientific article

Two complementary strand-specific termination sites for adenovirus DNA replication

scientific article published on October 1, 1976

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

scientific article published on 01 October 2008

WNT10B mutations associated with isolated dental anomalies.

scientific article

List of works by Aslihan Tolun

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

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

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

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

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

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

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

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

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.

Ataxia-telangiectasia: linkage analysis of chromosome 11q22-23 markers in Turkish families

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

Carrier detection by DNA analysis in Duchenne muscular dystrophy families

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

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

DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA.

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians

Dinucleotide repeat polymorphism at 11q23

Dinucleotide repeat polymorphism at the NCAM locus

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

Evidence for the presence of muscarinic M2 and M4 receptors in guinea-pig gallbladder smooth muscle

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

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

From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

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

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

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

Identification of a one-basepair deletion in exon 6 of the dystrophin gene

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

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

LACC1 Gene Defects in Familial Form of Juvenile Arthritis

Large-scale recent expansion of European patrilineages shown by population resequencing

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium ⬇️

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

Nature of the single-stranded DNA in replicating adenovirus type 5 DNA ⬇️

Novel recessive cone-rod dystrophy caused by POC1B mutation.

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.

P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis.

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

Purification of RNA-DNA hybrids by exclusion chromatography ⬇️

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

Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism ⬇️

Repair of Radiation-Induced Strand Breaks as Related to the Inducible Inhibitor of Postirradiation DNA Degradation ⬇️

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

Separation of the minimal replication region of the F plasmid into a replication origin segment and a trans-acting segment

Sequence of inverted terminal repetitions from different adenoviruses: Demonstration of conserved sequences and homology between SA7 termini and SV40 DNA

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

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

TBC1D24 truncating mutation resulting in severe neurodegeneration.

Termination sites for adenovirus type 2 DNA replication ⬇️

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

The molecular basis of beta-thalassemia in Turkey

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

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia

Two complementary strand-specific termination sites for adenovirus DNA replication

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

WNT10B mutations associated with isolated dental anomalies.