Хайлтын үр дүнгүүд - Periklis Makrythanasis

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  1. 1
    A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

    A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly -н Periklis Makrythanasis, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Hanan Hamamy, Stylianos E. Antonarakis

    Хэвлэсэн 2014
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  2. 2
    Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

    Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases -н Faidon‐Nikolaos Tilemis, Nikolaos M. Marinakis, Danai Veltra, Maria Svingou, Kyriaki Kekou, Anastasios Mitrakos, Maria Tzetis, Konstantina Kosma, Periklis Makrythanasis, Joanne Traeger‐Synodinos, Christalena Sofocleous

    Хэвлэсэн 2023
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  3. 3
    Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

    Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance -н Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos Panousis, Frédérique Sloan‐Béna, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis

    Хэвлэсэн 2019
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  4. 4
    DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

    DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins -н M. Reza Sailani, Federico Santoni, Audrey Letourneau, Christelle Borel, Periklis Makrythanasis, Youssef Hibaoui, Konstantin Popadin, Ximena Bonilla, Michel Guipponi, Corinne Gehrig, Anne Vannier, F. Carré‐Pigeon, Anis Féki, Dean Nižetić, Stylianos E. Antonarakis

    Хэвлэсэн 2015
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  5. 5
    Extrachromosomal driver mutations in glioblastoma and low-grade glioma

    Extrachromosomal driver mutations in glioblastoma and low-grade glioma -н Sergey I. Nikolaev, Federico Santoni, Marco Garieri, Periklis Makrythanasis, Emilie Falconnet, Michel Guipponi, Anne Vannier, Ivan Radovanovic, Frédérique Béna, F Forestier, Karl Schaller, Valérie Dutoit, Virginie Clément‐Schatlo, Pierre‐Yves Dietrich, Stylianos E. Antonarakis

    Хэвлэсэн 2014
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  6. 6
    Proteome‐based classification of Nonmuscle Invasive Bladder Cancer

    Proteome‐based classification of Nonmuscle Invasive Bladder Cancer -н Rafael Stroggilos, Marika Mokou, Agnieszka Latosińska, Manousos Makridakis, Vasiliki Lygirou, Emmanouil Mavrogeorgis, Dimitrios Drekolias, Maria Frantzi, William Mullen, Charalampos Fragkoulis, Konstantinos Stasinopoulos, Georgios Papadopoulos, Georgios Stathouros, Andreas C. Lazaris, Periklis Makrythanasis, Konstantinos Ntoumas, Harald Mischak, Jérôme Zoidakis, Antonia Vlahou

    Хэвлэсэн 2019
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  7. 7
    Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

    Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing -н María Gutiérrez‐Arcelus, Halit Ongen, Tuuli Lappalainen, Stephen B. Montgomery, Alfonso Buil, Alisa Yurovsky, Julien Bryois, Ismaël Padioleau, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Thomas Giger, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis

    Хэвлэсэн 2015
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  8. 8
    Passive and active DNA methylation and the interplay with genetic variation in gene regulation

    Passive and active DNA methylation and the interplay with genetic variation in gene regulation -н María Gutiérrez‐Arcelus, Tuuli Lappalainen, Stephen B. Montgomery, Alfonso Buil, Halit Ongen, Alisa Yurovsky, Julien Bryois, Thomas Giger, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Ismaël Padioleau, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis

    Хэвлэсэн 2013
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  9. 9
    The novel p.<scp>A30G <i>SNCA</i></scp> pathogenic variant in Greek patients with familial and sporadic Parkinson's disease

    The novel p.<scp>A30G <i>SNCA</i></scp> pathogenic variant in Greek patients with familial and sporadic Parkinson's disease -н Ioanna Alefanti, Christos Koros, Viktoria Tsami, Athina Maria Simitsi, Chrisoula Kartanou, Nikolaos Papagiannakis, Maria Bozi, Roubina Antonelou, Matina Maniati, Ann‐Kathrin Hauser, Stefanos Varvaressos, Anastasios Bonakis, Konstantinos Lourentzos, Periklis Makrythanasis, Sokratis G. Papageorgiou, Christos Proukakis, Constantin Potagas, Thomas Gasser, Georgios Koutsis, Georgia Karadima, Leonidas Stefanis

    Хэвлэсэн 2025
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  10. 10
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia -н Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami

    Хэвлэсэн 2016
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  11. 11
    Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

    Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency -н Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail Aziz Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J. Pournaras, Ariane Malclès, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad Tahir Sarwar, L. Keith Henry, Stylianos E. Antonarakis

    Хэвлэсэн 2019
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  12. 12
    <i>DEPDC5</i> mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

    <i>DEPDC5</i> mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy -н Fabienne Picard, Periklis Makrythanasis, Vincent Navarro, Saeko Ishida, Julitta de Bellescize, Dorothée Ville, Sarah Weckhuysen, Erwin Fosselle, Arvid Suls, Peter De Jonghe, Maryline Vasselon Raina, Gaëtan Lesca, Christel Depienne, Isabelle An-Gourfinkel, Mihaela Bustuchina ̆ Vlaicu, Michel Baulac, Emeline Mundwiller, Philippe Couarch, Romina Combi, Luigi Ferini‐Strambi, Antonio Gambardella, Stylianos E. Antonarakis, Eric LeGuern, Ortrud K. Steinlein, Stéphanie Baulac

    Хэвлэсэн 2014
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  13. 13
    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay -н Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, Periklis Makrythanasis, Sohail Aziz Paracha, Zafar Iqbal, Jamshed Khan, Muhammad Zaman Khan Assir, Mureed Hussain, Attia Razzaq, D.L. Polla, Abid Sohail Taj, Asbjørn Holmgren, Naila Batool, Doriana Misceo, Justyna Iwaszkiewicz, Arjan P.M. de Brouwer, Michel Guipponi, Sylviane Hanquinet, Vincent Zoete, Federico Santoni, Eirik Frengen, Jawad Ahmed, Sheikh Riazuddin, Hans van Bokhoven, Stylianos E. Antonarakis

    Хэвлэсэн 2017
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  14. 14
    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

    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 -н Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin‐Robinet, Christelle Borel, Séverine Mazaud‐Guittot, Antoine D. Rolland, Christèle Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kühne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frédéric Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A. Trainor, Marilyn D. Resh, Stylianos E. Antonarakis, Serge Nef

    Хэвлэсэн 2014
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  15. 15
    The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

    The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome -н M. Reza Sailani, Periklis Makrythanasis, Armand Valsesia, Federico Santoni, Samuel Deutsch, Konstantin Popadin, Christelle Borel, Eugenia Migliavacca, Andrew J. Sharp, Geneviève Duriaux Saïl, Emilie Falconnet, Raquel Rabionet, Clara Serra‐Juhé, Stefano Vicari, Daniéla Laux, Yann Grattau, Guy Dembour, André Mégarbané, Renaud Touraine, Samantha Stora, Sofìa Kitsiou, Helena Fryssira, Chariklia Chatzisevastou-Loukidou, Emmanouel Kanavakis, Giuseppe Merla, Damien Bonnet, Luis A. Pérez‐Jurado, Xavier Estivill, Jean Maurice Delabar, Stylianos E. Antonarakis

    Хэвлэсэн 2013
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  16. 16
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy -н Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Хэвлэсэн 2016
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  17. 17
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly -н Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen, Damir Musaev, Maha S. Zaki, Iman G. Mahmoud, Laila Selim, Amera Elbadawy, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Tomasz Gambin, Hanne Sørmo Sorte, Arvid Heiberg, Jennifer McEvoy‐Venneri, Kiely N. James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G. Gleeson, James R. Lupski, Ehsan Ghayoor Karimiani, Stylianos E. Antonarakis

    Хэвлэсэн 2018
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  18. 18
    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families -н Periklis Makrythanasis, Mari Nelis, Federico Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia A. Temtamy, André Mégarbané, Amira Masri, Mona Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos A. Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou‐Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al‐Allawi, Abdelaziz Sefiani, Sana' A. S. Al Hait, Siham Chafai Elalaoui, Nadine Jalkh, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, D.N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis

    Хэвлэсэн 2014
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  19. 19
    Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

    Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia -н Daniel Toddie-Moore, Alexandros Onoufriadis, Amelia Shoemark, Michael A. Simpson, Petra I. zur Lage, Sandra C. de Castro, Lucia Bartoloni, Giuseppe Gallone, Stavroula Petridi, Wesley J. Woollard, Dinu Antony, Miriam Schmidts, Teresa Didonna, Periklis Makrythanasis, Jeremy Bevillard, Nigel P. Mongan, Jana Djakow, Gerard Pals, Jane S. Lucas, June K. Marthin, Kim G. Nielsen, Federico Santoni, Michel Guipponi, Claire Hogg, Stylianos E. Antonarakis, Richard D. Emes, Eddie M.K. Chung, Nicholas D. E. Greene, Jean-Louis Blouin, Andrew P. Jarman, Hannah M. Mitchison

    Хэвлэсэн 2013
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  20. 20
    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations -н Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas

    Хэвлэсэн 2014
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