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Molecular technology vs clinical practice: a hypothesis in genetics

Journal of human genetics, 2010-08, Vol.55 (8), p.552-553

Kokotas, Haris

2010

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SLITRK6 mutations cause myopia and deafness in humans and mice

The Journal of clinical investigation, 2013-05, Vol.123 (5), p.2094-2102

2013

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Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Journal of human genetics, 2010-05, Vol.55 (5), p.265-269

2010

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Prenatal diagnosis of glycogen storage disease type IV

Prenatal diagnosis, 2006-10, Vol.26 (10), p.951-955

2006

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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Molecular cytogenetics, 2011-02, Vol.4 (1), p.6-6

2011

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Age-related macular degeneration: genetic and clinical findings

Clinical chemistry and laboratory medicine, 2011-04, Vol.49 (4), p.601-616

2011

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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Molecular cytogenetics, 2011-04, Vol.4 (1), p.11-11

2011

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Human Nondisjunction and Mouse Models in Down Syndrome

Journal of genetic syndrome & gene therapy, 2012, Vol.3 (3)

Kokotas, Haris

2012

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Biomarkers in primary open angle glaucoma

Clinical chemistry and laboratory medicine, 2012-12, Vol.50 (12), p.2107-2119

2012

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Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

Molecular cytogenetics, 2008-11, Vol.1 (1), p.24-24, Article 24

2008

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The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness

International journal of pediatric otorhinolaryngology, 2012-07, Vol.76 (7), p.969-971

2012

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A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

American journal of human genetics, 2010-05, Vol.86 (5), p.797-804

2010

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Molecular Genetics and Gene Therapy Aspects of Phenylalanine Hydroxylase (PAH) Related Hyperphenylalaninemias

Journal of genetic syndrome & gene therapy, 2014, Vol.5 (6)

Grigoriadou, Maria

2014

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Compound heterozygosity of the novel c.292C > T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness

International journal of pediatric otorhinolaryngology, 2012-04, Vol.76 (4), p.549-551

2012

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Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population

Molecular vision, 2013-05, Vol.19, p.1006-1016

2013

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Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

Human genetics, 2010-10, Vol.128 (4), p.411-419

2010

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Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in GJB4 encoding connexin 30.3

EJD. European journal of dermatology, 2012-03, Vol.22 (2), p.182-186

2012

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35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Cytogenetic and genome research, 2015-01, Vol.145 (1), p.6-13

2015

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The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

Biochemical and biophysical research communications, 2009-12, Vol.390 (3), p.755-757

2009

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Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

Prenatal diagnosis, 2008-04, Vol.28 (4), p.309-312

2008

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A novel PIKFYVE mutation in fleck corneal dystrophy

Molecular vision, 2011, Vol.17, p.2776-2781

2011

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Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population

Disease markers, 2009, Vol.27 (6), p.279-285

2009

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Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population

Disease markers, 2009-01, Vol.27 (6), p.279-285

2009

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Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2841-2854

2011

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Detection of deafness-causing mutations in the Greek mitochondrial genome

Disease markers, 2011, Vol.30 (6), p.283-289

2011

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Molecular technology vs clinical practice: a hypothesis in genetics

SLITRK6 mutations cause myopia and deafness in humans and mice

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Prenatal diagnosis of glycogen storage disease type IV

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Age-related macular degeneration: genetic and clinical findings

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Human Nondisjunction and Mouse Models in Down Syndrome

Biomarkers in primary open angle glaucoma

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Molecular Genetics and Gene Therapy Aspects of Phenylalanine Hydroxylase (PAH) Related Hyperphenylalaninemias

Compound heterozygosity of the novel c.292C > T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness

Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in GJB4 encoding connexin 30.3

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

A novel PIKFYVE mutation in fleck corneal dystrophy

Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population

Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

Detection of deafness-causing mutations in the Greek mitochondrial genome

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