Kokotas, Haris: search on Z-Library

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1

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Haris Kokotas, Maria Grigoriadou, Li Yang, Marianne Lodahl, Nanna Dahl Rendtorff, Yolanda Gyftodimou, George S. Korres, Elisabeth Ferekidou, Dimitrios Kandiloros, Stavros Korres, Lisbeth Tranebjærg, M

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2011

Language:

english

File:

PDF, 186 KB

english, 2011

2

Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation

Haris Kokotas, Maria Grigoriadou, George S. Korres, Elisabeth Ferekidou, Dimitrios Kandiloros, Stavros Korres, Michael B. Petersen

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 113 KB

english, 2010

3

Biomarkers in primary open angle glaucoma

Kokotas, Haris, Kroupis, Christos, Chiras, Dimitrios, Grigoriadou, Maria, Lamnissou, Klea, Petersen, Michael B., Kitsos, George

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 555 KB

english, 2012

4

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

Anastasia Konstantinidou, Charalampos Karadimas, Hans R. Waterham, Andrea Superti-Furga, Petros Kaminopetros, Maria Grigoriadou, Haris Kokotas, George Agrogiannis, Aglaia Giannoulia-Karantana, Efstrat

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 340 KB

english, 2008

5

Multiple enhancers located in a 1-Mb region upstream ofPOU3F4promote expression during inner ear development and may be required for hearing

Silvia Naranjo, Krysta Voesenek, Elisa de la Calle-Mustienes, Alex Robert-Moreno, Haris Kokotas, Maria Grigoriadou, John Economides, Guy Van Camp, Nele Hilgert, Felipe Moreno, Berta Alsina, Michael B.

Journal:

Year:

2010

Language:

english

File:

PDF, 701 KB

english, 2010

6

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

Haris Kokotas, Maria Grigoriadou, George S. Korres, Elisabeth Ferekidou, Eleftheria Papadopoulou, Polyxene Neou, Aglaia Giannoulia-Karantana, Dimitrios Kandiloros, Stavros Korres, Michael B. Petersen

Journal:

Biochemical and Biophysical Research Communications

Year:

2009

Language:

english

File:

PDF, 142 KB

english, 2009

7

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

Kokotas, Haris, Grigoriadou, Maria, Korres, George S, Ferekidou, Elisabeth, Giannoulia-Karantana, Aglaia, Kandiloros, Dimitrios, Korres, Stavros, Petersen, Michael B

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

8

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

Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos,

Journal:

Molecular Cytogenetics

Year:

2011

Language:

english

File:

PDF, 765 KB

english, 2011

9

Easy, Rapid, and Cost-Effective Methods for Identifying Carriers of Recurrent GJB2 Mutations Causing Nonsyndromic Hearing Impairment in the Greek Population

Kokotas, Haris, Grigoriadou, Maria, Hatzaki, Angeliki, Antoniadi, Thalia, Giannoulia-Karantana, Aglaia, Petersen, Michael B.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 566 KB

english, 2010

10

Molecular technology vs clinical practice: a hypothesis in genetics

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 97 KB

english, 2010

11

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

Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, Michael B Petersen

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 1.11 MB

english, 2008

12

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

Sarri, Catherine, Douzgou, Sofia, Kontos, Haris, Anagnostopoulou, Katherine, T�mer, Zeynep, Grigoriadou, Maria, Petersen, Michael B., Kokotas, Haris, Merou, Konstantina, Pandelia, Efi, Giouroukou, Ele

Journal:

Cytogenetic and Genome Research

Year:

2015

Language:

english

File:

PDF, 282 KB

english, 2015

13

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

Kokotas, Haris, Grigoriadou, Maria, Korres, George S., Ferekidou, Elisabeth, Kandiloros, Dimitrios, Korres, Stavros, Petersen, Michael B.

Journal:

Disease Markers

Year:

2011

Language:

english

File:

PDF, 1.20 MB

english, 2011

14

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

Michael B. Petersen, Maria Grigoriadou, John Economides, Haris Kokotas

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2012

Language:

english

File:

PDF, 540 KB

english, 2012

15

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

Kokotas, Haris, Grigoriadou, Maria, Mikkelsen, Margareta, Giannoulia-Karantana, Aglaia, Petersen, Michael B.

Journal:

Disease Markers

Year:

2009

Language:

english

File:

PDF, 1.37 MB

english, 2009

16

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

Michael B. Petersen, Maria Grigoriadou, Maria Koutroumpe, Haris Kokotas

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

17

Sudden hearing loss in a family with GJB2 related progressive deafness

Haris Kokotas, Maria Theodosiou, George Korres, Maria Grigoriadou, Elisabeth Ferekidou, Aglaia Giannoulia-Karantana, Michael B. Petersen, Stavros Korres

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2008

Language:

english

File:

PDF, 723 KB

english, 2008

18

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population

Haris Kokotas, Lut Van Laer, Maria Grigoriadou, Vassiliki Iliadou, John Economides, Stella Pomoni, Andreas Pampanos, Nikos Eleftheriades, Elisabeth Ferekidou, Stavros Korres, Aglaia Giannoulia-Karanta

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 88 KB

english, 2008

19

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

Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos,

Journal:

Molecular Cytogenetics

Year:

2011

Language:

english

File:

PDF, 162 KB

english, 2011

20

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

Catherine Sarri, Sofia Douzgou, Yolanda Gyftodimou, Zeynep Tümer, Kirstine Ravn, Angela Pasparaki, Theologia Sarafidou, Harry Kontos, Haris Kokotas, Georgia Karadima, Maria Grigoriadou, Effie Pandelia

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 300 KB

english, 2011

21

Age-related macular degeneration: genetic and clinical findings

Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2011

Language:

english

File:

PDF, 352 KB

english, 2011

22

De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features

Kolaitis, Gerasimos, Papanikolaou, Katerina, Paliokosta, Elena, Tsiantis, John, Gyftodimou, Yolanda, Sarri, Catherine, Petersen, Michael, Kokotas, Haris

Journal:

Advances in Mental Health and Learning Disabilities

Year:

2009

Language:

english

File:

PDF, 135 KB

english, 2009

23

Prenatal diagnosis of glycogen storage disease type IV

H. Orhan Akman, Charalampos Karadimas, Yolanda Gyftodimou, Maria Grigoriadou, Haris Kokotas, Anastasia Konstantinidou, Hector Anninos, Efstratios Patsouris, Harshwardhan M. Thaker, Jeffrey B. Kaplan,

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 260 KB

english, 2006

24

Hypothesizing an Ancient Greek Origin of the GJB2 35delG Mutation: Can Science Meet History?

Kokotas, Haris, Grigoriadou, Maria, Villamar, Manuela, Giannoulia-Karantana, Aglaia, del Castillo, Ignacio, Petersen, Michael B.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 80 KB

english, 2010

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