Makrythanasis, Periklis: search on Z-Library

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1

Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes—Their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients

Athanasios Papatheodorou, Periklis Makrythanasis, Marios Kaliakatsos, Aikaterini Dimakou, Dora Orfanidou, Charis Roussos, Emmanuel Kanavakis, Maria Tzetis

Journal:

Clinical Biochemistry

Year:

2010

Language:

english

File:

PDF, 276 KB

english, 2010

2

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Lambert, Nelle, Dauve, Corinne, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico, Sloan-Béna, Frédérique, Gimelli, Stefania, Blouin, Jean-Louis, Guipponi, Michel, Bottani, Armand, Antonar

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 610 KB

english, 2018

3

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-α gene—Their association with obstructive pulmonary disease in Greek patients

Athanasios Papatheodorou, Panagiota Latsi, Christina Vrettou, Aikaterini Dimakou, Alexia Chroneou, Periklis Makrythanasis, Marios Kaliakatsos, Dora Orfanidou, Charis Roussos, Emmanuel Kanavakis, Maria

Journal:

Clinical Biochemistry

Year:

2007

Language:

english

File:

PDF, 398 KB

english, 2007

4

CATCHing putative causative variants in consanguineous families

Santoni, Federico Andrea, Makrythanasis, Periklis, Antonarakis, Stylianos E.

Journal:

BMC Bioinformatics

Year:

2015

Language:

english

File:

PDF, 656 KB

english, 2015

5

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

Karavitakis, Emmanouil, Kitsiou-Tzeli, Sofia, Xaidara, Athena, Kosma, Konstantina, Makrythanasis, Periklis, Apazidou, Eleni, Kanavakis, Emmanuel, Tzetis, Maria

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 270 KB

english, 2014

6

Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors

Maria, Andrianova, Chetan, Ghati Kasturirangan, Sibin, Madathan Kandi, Mckee, Thomas, Merkler, Doron, Narasinga, Rao KVL, Ribaux, Pascale, Blouin, Jean-Louis, Makrythanasis, Periklis, Seplyarskiy, Vla

Journal:

The Journal of Pathology

Year:

2017

Language:

english

File:

PDF, 1.69 MB

english, 2017

7

Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population

Aspasia Tsezou, Tatsuya Furuichi, Maria Satra, Periklis Makrythanasis, Shiro Ikegawa, Konstantinos N. Malizos

Journal:

Journal of Orthopaedic Research

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

8

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype?

Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, Sophie Dahoun, Michael A. Morris, Stylianos E. Antonarakis, Armand Bottani

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 938 KB

english, 2012

9

Defining categories of actionability for secondary findings in next-generation sequencing

Moret, Celine, Mauron, Alex, Fokstuen, Siv, Makrythanasis, Periklis, Hurst, Samia A

Journal:

Journal of Medical Ethics

Year:

2016

Language:

english

File:

PDF, 150 KB

english, 2016

10

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

Periklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, Alexandre Reymond, Samuel Deutsch, Roderic Guigó, France Denoeud, Jorg Drenkow, Colette Rossier, Francesca Ariani, Valeria Capra, Laurent Exc

Journal:

Year:

2009

Language:

english

File:

PDF, 586 KB

english, 2009

11

Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemia

Ino Kanavaki, Periklis Makrythanasis, Christina Lazaropoulou, Antonis Kattamis, Revekka Tzanetea, Vassiliki Kalotychou, Ioannis Rombos, Ioannis Papassotiriou

Journal:

European Journal of Clinical Investigation

Year:

2012

Language:

english

File:

PDF, 213 KB

english, 2012

12

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Makrythanasis, Periklis, Nelis, Mari, Santoni, Federico A., Guipponi, Michel, Vannier, Anne, Béna, Frédérique, Gimelli, Stefania, Stathaki, Elisavet, Temtamy, Samia, Mégarbané, André, Masri, Amira, Ag

Journal:

Year:

2014

Language:

english

File:

PDF, 720 KB

english, 2014

13

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis

Calvel, Pierre, Kusz-Zamelczyk, Kamila, Makrythanasis, Periklis, Janecki, Damian, Borel, Christelle, Conne, B�atrice, Vannier, Anne, B�na, Fr�d�rique, Gimelli, Stefania, Fichna, Piotr, Antonarakis, St

Journal:

Sexual Development

Year:

2015

Language:

english

File:

PDF, 223 KB

english, 2015

14

Choking fits during sleep related to epilepsy

Makrythanasis, Periklis, Behr, Charles, Baulac, Stéphanie, Hirsch, Edouard, Picard, Fabienne

Journal:

The American Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 179 KB

english, 2016

15

Soluble endothelial adhesion molecules and inflammation markers in patients with β-thalassemia intermedia

Ino Kanavaki, Periklis Makrythanasis, Christina Lazaropoulou, Maria Tsironi, Antonis Kattamis, Ioannis Rombos, Ioannis Papassotiriou

Journal:

Blood Cells, Molecules, and Diseases

Year:

2009

Language:

english

File:

PDF, 362 KB

english, 2009

16

Exome sequencing disclosesKALRNhomozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.63 MB

english, 2016

17

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambi

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.33 MB

english, 2018

18

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, S

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 1.91 MB

english, 2019

19

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Gannagé-Yared, Marie-Hélène, Makrythanasis, Periklis, Chouery, Eliane, Sobacchi, Cristina, Mehawej, Cybel, Santoni, Federico A., Guipponi, Michel, Antonarakis, Stylianos E., Hamamy, Hanan, Mégarbané,

Journal:

Year:

2014

Language:

english

File:

PDF, 503 KB

english, 2014

20

Next generation diagnostics on cardiomyopathy

Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

21

Myeloid Proliferation Without GATA1 Mutations in a Fetus with Down Syndrome Presenting In Utero as a Pericardial Effusion

Rougemont, Anne-Laure, Makrythanasis, Periklis, Finci, Vildana, Billieux, Marie-Hélène, Epiney, Manuella, McKee, Thomas A., Nizetic, Dean, Fokstuen, Siv

Journal:

Pediatric and Developmental Pathology

Year:

2010

Language:

english

File:

PDF, 1.38 MB

english, 2010

22

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH

Kaliakatsos, Marios, Giannakopoulos, Aristeidis, Fryssira, Helena, Kanariou, Maria, Skiathitou, Anna-Venetia, Siahanidou, Tania, Giannikou, Krinio, Makrythanasis, Periklis, Kanavakis, Emmanuel, Tzetis

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 154 KB

english, 2010

23

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients

Delaveri, Aikaterini, Rapti, Aggeliki, Poulou, Myrto, Fylaktou, Eirini, Tsipi, Maria, Roussos, Charis, Makrythanasis, Periklis, Kanavakis, Emmanuel, Tzetis, Maria

Journal:

Year:

2014

Language:

english

File:

PDF, 231 KB

english, 2014

24

Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis

Temtamy, Samia A., Aglan, Mona S., Otaify, Ghada A., Abdel-Hamid, Mohamed, Ismail, Somaia, Makrythanasis, Periklis, Hamamy, Hanan, Antonarakis, Stylianos E.

Journal:

Middle East Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 435 KB

english, 2015

25

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Ansar, Muhammad, Chung, Hyung-lok, Taylor, Rachel L., Nazir, Aamir, Imtiaz, Samina, Sarwar, Muhammad T., Manousopoulou, Alkistis, Makrythanasis, Periklis, Saeed, Sondas, Falconnet, Emilie, Guipponi, M

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.51 MB

english, 2018

26

Cover Image, Volume 40, Issue 3

Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al-Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita,

Journal:

Year:

2019

File:

PDF, 5.96 MB

2019

27

Familial Pelizaeus–Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus

Sophia Kitsiou-Tzeli, Anastasia Konstantinidou, Christalena Sofocleous, Konstantina Kosma, Areti Syrmou, Krinio Giannikou, Stavros Sifakis, Periklis Makrythanasis, Maria Tzetis

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

28

Cystic Fibrosis Conductance Regulator, Tumor Necrosis Factor, Interferon Alpha-10, Interferon Alpha-17, and Interferon Gamma Genotyping as Potential Risk Markers in Pulmonary Sarcoidosis Pathogenesis in Greek Patients

Makrythanasis, Periklis, Tzetis, Maria, Rapti, Aggeliki, Papatheodorou, Athanasios, Tsipi, Maria, Kitsiou, Sophia, Tsiamouri, Alexia, Poulou, Myrto, Roussos, Charis, Kanavakis, Emmanouel

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 104 KB

english, 2010

29

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

Callier, Patrick, Calvel, Pierre, Matevossian, Armine, Makrythanasis, Periklis, Bernard, Pascal, Kurosaka, Hiroshi, Vannier, Anne, Thauvin-Robinet, Christel, Borel, Christelle, Mazaud-Guittot, Séverin

Journal:

Year:

2014

Language:

english

File:

PDF, 8.92 MB

english, 2014

30

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Gazali, Lihadh Al, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita,

Journal:

Year:

2018

Language:

english

File:

PDF, 1.94 MB

english, 2018

31

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

Makrythanasis, Periklis, Temtamy, Samia, Aglan, Mona S., Otaify, Ghada A., Hamamy, Hanan, Antonarakis, Stylianos E.

Journal:

Year:

2014

Language:

english

File:

PDF, 811 KB

english, 2014

32

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letournea

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.71 MB

english, 2016

33

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad, Chung, Hyunglok, Waryah, Yar M, Makrythanasis, Periklis, Falconnet, Emilie, Rao, Ali Raza, Guipponi, Michel, Narsani, Ashok K, Fingerhut, Ralph, Santoni, Federico A, Ranza, Emmanuelle

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 696 KB

english, 2018

34

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Ha

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 422 KB

english, 2016

35

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Ansar, Muhammad, Riazuddin, Saima, Sarwar, Muhammad Tahir, Makrythanasis, Periklis, Paracha, Sohail Aziz, Iqbal, Zafar, Khan, Jamshed, Assir, Muhammad Zaman, Hussain, Mureed, Razzaq, Attia, Polla, Dan

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 918 KB

english, 2017

36

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease

Syrmou, Areti, Tzetis, Maria, Fryssira, Helen, Kosma, Konstantina, Oikonomakis, Vasilis, Giannikou, Krinio, Makrythanasis, Periklis, Kitsiou-Tzeli, Sophia, Kanavakis, Emmanuel

Journal:

Pediatric Research

Year:

2013

Language:

english

File:

PDF, 609 KB

english, 2013

37

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, S

Journal:

Nature Communications

Year:

2019

File:

PDF, 1.91 MB

2019

38

Analysis of the Born in Bradford birth cohort

Makrythanasis, Periklis, Hamamy, Hanan, Antonarakis, Stylianos E, Mauron, Alex, Hurst, Samia A

Journal:

Year:

2014

Language:

english

File:

PDF, 162 KB

english, 2014

39

From sequence to functional understanding: the difficult road ahead

Periklis Makrythanasis,Stylianos E Antonarakis

Journal:

Genome Medicine

Year:

2011

Language:

english

File:

PDF, 253 KB

english, 2011

40

Association of TLR4 Single-Nucleotide Polymorphisms and Sarcoidosis in Greek Patients

Iliadi, Alexandra, Makrythanasis, Periklis, Tzetis, Maria, Tsipi, Maria, Traeger-Synodinos, Jan, Ioannou, Penelope C., Rapti, Aggeliki, Kanavakis, Emmanuel, Christopoulos, Theodore K.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

41

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Humbert, Jonathan, Salian, Smrithi, Makrythanasis, Periklis, Lemire, Gabrielle, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Alasiri, Rami, Bottani, Armand, Hanquinet, Sylviane, Beaver, Erin,

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 1.67 MB

2020

42

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Nikolaev, Sergey, Santoni, Federico, Garieri, Marco, Makrythanasis, Periklis, Falconnet, Emilie, Guipponi, Michel, Vannier, Anne, Radovanovic, Ivan, Bena, Frederique, Forestier, Françoise, Schaller, K

Journal:

Nature Communications

Year:

2014

Language:

english

File:

PDF, 734 KB

english, 2014

43

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in theFYBgene: case report

Hamamy, Hanan, Makrythanasis, Periklis, Al-Allawi, Nasir, Muhsin, Abdulrahman A, Antonarakis, Stylianos E

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 631 KB

english, 2014

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