SUN-028 Concomitant Mutations in the POR and AR Genes in a Boy Presenting with Micropenis and Premature Adrenarche

por Dermitzaki, Eleni, Manolakos, Emmanouil, Kleanthous, Kleanthis, Mastorakos, George, Papadimitriou, Dimitrios T
Publicado 2020

MON-072 A 2 -Year Old Girl with Turner Syndrome and Neurofibromatosis Type 1

por Dermitzaki, Eleni, Manolakos, Emmanouil, Tagalakis, Panagiotis, Kleanthous, Kleanthis, Papadimitriou, Dimitrios T
Publicado 2020

MON-078 WFS1 Related Disorder in A 4-Month Old Girl

por Kleanthous, Kleanthis, Manolakos, Emmanouil, Dermitzaki, Eleni, Fretzayas, Andreas, Urano, Fumihiko, Papadimitriou, Dimitrios T
Publicado 2020

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

por Dagklis, Themistoklis, Papageorgiou, Elena, Siomou, Elisavet, Paspaliaris, Vassilis, Zerva, Christina, Chatzis, Panagiotis, Thomaidis, Loretta, Manolakos, Emmanouil, Papoulidis, Ioannis
Publicado 2016

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features

por Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B., Gyftodimou, Yolanda, Manolakos, Emmanouil
Publicado 2014

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

por MANOLAKOS, EMMANOUIL, VETRO, ANNALISA, GARAS, ANTONIOS, THOMAIDIS, LORETTA, KEFALAS, KONSTANTINOS, KITSOS, GEORGE, ZIEGLER, MONIKA, LIEHR, THOMAS, ZUFFARDI, ORSETTA, PAPOULIDIS, IOANNIS
Publicado 2014

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

por Papoulidis, Ioannis, Paspaliaris, Vassilis, Siomou, Elisavet, Orru, Sandro, Murru, Roberta, Sifakis, Stavros, Nikolaidis, Petros, Garas, Antonios, Sotiriou, Sotirios, Thomaidis, Loretta, Manolakos, Emmanouil
Publicado 2015

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

por Papoulidis, Ioannis, Vetro, Annalisa, Paspaliaris, Vassilis, Ziegler, Monika, Kreskowski, Katharina, Daskalakis, George, Papadopoulos, Vasilios, Dagklis, Themistoklis, Liehr, Thomas, Thomaidis, Loretta, Manolakos, Emmanouil
Publicado 2018

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-...

por Manolakos, Emmanouil, Kosyakova, Nadezda, Thomaidis, Loreta, Neroutsou, Rozita, Weise, Anja, Mihalatos, Markos, Orru, Sandro, Kokotas, Haris, Kitsos, George, Liehr, Thomas, Petersen, Michael B
Publicado 2008

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

por Kitsiou-Tzeli, Sofia, Manolakos, Emmanouil, Lagou, Magdalini, Kontodiou, Maria, Kosyakova, Nadezda, Ewers, Elisabeth, Weise, Anja, Garas, Antonios, Orru, Sandro, Liehr, Thomas, Metaxotou, Aikaterini
Publicado 2009

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

por Lagou, Magdalini, Papoulidis, Ioannis, Orru, Sandro, Papadopoulos, Vasileios, Daskalakis, George, Kontodiou, Maria, Anastasakis, Eleftherios, Petersen, Michael B, Kitsos, George, Thomaidis, Loretta, Manolakos, Emmanouil
Publicado 2014

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

por Sifakis, Stavros, Manolakos, Emmanouil, Vetro, Annalisa, Kappou, Dimitra, Peitsidis, Panagiotis, Kontodiou, Maria, Garas, Antonios, Vrachnis, Nikolaos, Konstandinidou, Anastasia, Zuffardi, Orsetta, Orru, Sandro, Papoulidis, Ioannis
Publicado 2012

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

por Papadimitriou, Dimitrios T., Kleanthous, Kleanthis, Manolakos, Emmanouil, Tiulpakov, Anatoly, Nikolopoulos, Thomas, Delides, Alexandros, Voros, Gerasimos, Dinopoulos, Argyrios, Zoupanos, George, Papadimitriou, Anastasios, Mastorakos, Georgios, Urano, Fumihiko
Publicado 2019

Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

por Vrachnis, Nikolaos, Papoulidis, Ioannis, Vrachnis, Dionysios, Siomou, Elisavet, Antonakopoulos, Nikolaos, Oikonomou, Stavroula, Zygouris, Dimitrios, Loukas, Nikolaos, Iliodromiti, Zoi, Pavlidou, Efterpi, Thomaidis, Loretta, Manolakos, Emmanouil
Publicado 2021

Correction: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

por Kitsiou-Tzeli, Sofia, Manolakos, Emmanouil, Lagou, Magdalini, Anagnostopoulou, Katerina, Kontodiou, Maria, Kosyakova, Nadezda, Ewers, Elisabeth, Weise, Anja, Garas, Antonios, Orru, Sandro, Liehr, Thomas, Metaxotou, Aikaterini
Publicado 2009

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

por Manolakos, Emmanouil, Orru, Sandro, Neroutsou, Rosita, Kefalas, Konstantinos, Louizou, Eirini, Papoulidis, Ioannis, Thomaidis, Loretta, Peitsidis, Panagiotis, Sotiriou, Sotirios, Kitsos, George, Tsoplou, Panagiota, Petersen, Michael B, Metaxotou, Aikaterini
Publicado 2009

Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia

por Orrù, Sandro, Orrù, Nicola, Manolakos, Emmanouil, Littera, Roberto, Caocci, Giovanni, Giorgiani, Giovanna, Bertaina, Alice, Pagliara, Daria, Giardini, Claudio, Nesci, Sonia, Locatelli, Franco, Carcassi, Carlo, La Nasa, Giorgio
Publicado 2012

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

por Papadopoulou, Zoe, Papoulidis, Ioannis, Sifakis, Stavros, Markopoulos, Georgios, Vetro, Annalisa, Vlaikou, Angeliki-Maria, Ziegler, Monica, Liehr, Thomas, Thomaidis, Loretta, Zuffardi, Orsetta, Syrrou, Maria, George, Kitsos, Manolakos, Emmanouil
Publicado 2017

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

por Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia
Publicado 2011

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

por Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia
Publicado 2011