Philippos Patsalis: search on Z-Library

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1

Duplication of exons 3–10 of the HSD17B3 gene: A novel type of genetic defect underlying 17β-HSD-3 deficiency

Vassos Neocleous, Carolina Sismani, Christos Shammas, Elisavet Efstathiou, Angelos Alexandrou, Marios Ioannides, Maria Argyrou, Philippos C. Patsalis, Leonidas A. Phylactou, Nicos Skordis

Journal:

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

2

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion

Sofia Kitsiou-Tzeli, Carolina Sismani, Marios Ioannides, Stavros Bashiardes, Andria Ketoni, Vassiliki Touliatou, Aggeliki Kolialexi, Ariadni Mavrou, Emanuel Kanavakis, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 690 KB

english, 2007

3

Clinical and molecular characterization of a second case of 7p22.1 microduplication

Egle Preiksaitiene, Jurate Kasnauskiene, Zivile Ciuladaite, Birute Tumiene, Philippos C. Patsalis, Vaidutis Kučinskas

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 257 KB

english, 2012

4

Considering specific clinical features as evidence of pathogenic copy number variants

Preiksaitiene, Egle, Molytė, Alma, Kasnauskiene, Jurate, Ciuladaite, Zivile, Utkus, Algirdas, Patsalis, Philippos C., Kučinskas, Vaidutis

Journal:

Journal of Applied Genetics

Year:

2014

Language:

english

File:

PDF, 280 KB

english, 2014

5

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization

Patsalis, Philippos C, Kousoulidou, Ludmila, Männik, Katrin, Sismani, Carolina, Žilina, Olga, Parkel, Sven, Puusepp, Helen, Tõnisson, Neeme, Palta, Priit, Remm, Maido

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 197 KB

english, 2006

6

Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

Voula Velissariou, Thalia Antoniadi, Philippos Patsalis, Stavroula Christopoulou, Athina Hatzipouliou, Jackie Donoghue, Katerina Bakou, Petros Kaminopetros, Vassilis Athanassiou, Michael B. Petersen

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 74 KB

english, 2001

7

A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability?

Jurate Kasnauskiene, Zivile Ciuladaite, Egle Preiksaitiene, Aušra Matulevičienė, Angelos Alexandrou, George Koumbaris, Carolina Sismani, Ingrida Pepalytė, Philippos C. Patsalis, Vaidutis Kučinskas

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 389 KB

english, 2012

8

Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR

Ioannides, Marios, Achilleos, Achilleas, Kyriakou, Skevi, Kypri, Elena, Loizides, Charalambos, Tsangaras, Kyriakos, Constantinou, Louiza, Koumbaris, George, Patsalis, Philippos C.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

File:

PDF, 598 KB

2019

9

Breakage-Fusion-Bridge Cycles Causing Chromosome Instability in Human Cleavage Stage Embryos

Philippos C. Patsalis

Journal:

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

10

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity

Patsalis, Philippos C, Evangelidou, Paola, Charalambous, Spyros, Sismani, Carolina

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 183 KB

english, 2004

11

Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies

Elisavet A. Papageorgiou, Heike Fiegler, Vardhman Rakyan, Stephan Beck, Maj Hulten, Klea Lamnissou, Nigel P. Carter, Philippos C. Patsalis

Journal:

The American Journal of Pathology

Year:

2009

Language:

english

File:

PDF, 224 KB

english, 2009

12

Comment on “Technical concerns on the clinical validation of the NIFTY test”

Patsalis, Philippos C., Christopoulou, Georgia, Velissariou, Voula

Journal:

Prenatal Diagnosis

Year:

2013

Language:

english

File:

PDF, 316 KB

english, 2013

13

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability

Philippos C Patsalis, Nicos Skordis, Carolina Sismani, Ludmila Kousoulidou, George Koumbaris, Christina Eftychi, George Stavrides, Antonis Ioulianos, Sophia Kitsiou-Tzeli, Angeliki Galla-Voumvouraki,

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

14

Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion

Laila Zahed, Carolina Sismani, M. Ioannides, Monzer Saleh, G. Koumbaris, Mazen Kenj, Amal Abdallah, Maya Ayyache, Philippos Patsalis

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 158 KB

english, 2008

15

The Cypriot and Iranian National Mutation Frequency Databases

Marina Kleanthous, Philippos C. Patsalis, Anthi Drousiotou, Mehdi Motazacker, Kyproula Christodoulou, Marios Cariolou, Erol Baysal, Kimia Khrizi, Babak Moghimi, Farzin Pourfarzad, Sjozef van Baal, Con

Journal:

Year:

2006

Language:

english

File:

PDF, 203 KB

english, 2006

16

Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS

Ioannides, Marios, Papageorgiou, Elisavet A, Keravnou, Anna, Tsaliki, Evdokia, Spyrou, Christiana, Hadjidaniel, Michael, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 357 KB

english, 2014

17

Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

Kousoulidou, Ludmila, Moutafi, Maria, Nicolaides, Paola, Hadjiloizou, Stavros, Christofi, Christos, Paradesiotou, Anna, Anastasiadou, Violetta, Sismani, Carolina, Patsalis, Philippos C.

Journal:

BioMed Research International

Year:

2013

Language:

english

File:

PDF, 649 KB

english, 2013

18

Fetal-Specific DNA Methylation Ratio Permits Noninvasive Prenatal Diagnosis of Trisomy 21

Papageorgiou, Elisavet A., Karagrigoriou, Alex, Tsaliki, Evdokia, Velissariou, Voula, Carter, Nigel P., Patsalis, Philippos C.

Journal:

Obstetric and Gynecologic Survey

Year:

2011

Language:

english

File:

PDF, 660 KB

english, 2011

19

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.

Journal:

Case Reports in Genetics

Year:

2014

Language:

english

File:

PDF, 507 KB

english, 2014

20

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

Papageorgiou, Elisavet, Koumbaris, George, Kypri, Elena, Hadjidaniel, Michael, Patsalis, Philippos

Journal:

Year:

2014

Language:

english

File:

PDF, 376 KB

english, 2014

21

ZNF232: structure and expression analysis of a novel human C2H2 zinc finger gene, member of the SCAN/LeR domain subfamily

Lampros A. Mavrogiannis, Alexandros Argyrokastritis, Nicholas Tzitzikas, Emmanuel Dermitzakis, Theologia Sarafidou, Philippos C. Patsalis, Nicholas K. Moschonas

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2001

Language:

english

File:

PDF, 407 KB

english, 2001

22

Response to Dr. H. Rivera regarding article “21 Mb deletion in chromosome band 13q22.2-q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features”

Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 75 KB

english, 2011

23

Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction

Syrrou, Maria, Georgiou, Ioannis, Patsalis, Philippos C., Bouba, Ioanna, Adonakis, George, Pagoulatos, Gerassimos N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

24

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 538 KB

english, 2009

25

A Novel Arginine Vasopressin-Neurophysin II Mutation Causes Autosomal Dominant Neurohypophyseal Diabetes insipidus and Morphologic Pituitary Changes

Skordis, Nicos, Patsalis, Philippos C., Hettinger, Joe A., Kontou, Maria, Herakleous, Eleni, Krishnamani, M.R.S., Phillips III, J.A.

Journal:

Hormone Research

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

26

Frequencies of ?grey-zone? and premutation-sizeFMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada

Patsalis, Philippos C., Sismani, Carolina, Hettinger, Joe A., Holden, Jeanette J.A., Lawson, J. Stuart, Chalifoux, Maryse, Wing, Maggie, Walker, Melissa, Leggo, Jayne

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

27

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

Papageorgiou, Elisavet A, Karagrigoriou, Alex, Tsaliki, Evdokia, Velissariou, Voula, Carter, Nigel P, Patsalis, Philippos C

Journal:

Nature Medicine

Year:

2011

Language:

english

File:

PDF, 542 KB

english, 2011

28

Monounsaturated fatty acid oligomerization is responsible for the agglutination activity of heated virgin olive oil

Ioannis S. Patrikios, Philippos C. Patsalis

Journal:

Food Research International

Year:

2003

Language:

english

File:

PDF, 316 KB

english, 2003

29

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

Syrrou, Maria, Patsalis, Philippos C., Georgiou, Ioannis, Hadjimarcou, Michael I., Constantinou-Deltas, C. D., Pagoulatos, Gerassimos

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 429 KB

english, 1996

30

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Paola Evangelidou, Carolina Sismani, Marios Ioannides, Christodoulos Christodoulou, George Koumbaris, Ioannis Kallikas, Ioannis Georgiou, Voula Velissariou, Philippos C Patsalis

Journal:

Molecular Cytogenetics

Year:

2010

Language:

english

File:

PDF, 763 KB

english, 2010

31

Sequence and STS of two new single copy DNA markers p21.6A (D6S116) and p21.14A (D6S122) on chromosome region 6q14-15; D6S122 highly homologous to the Igk chain

Philippos C Patsalis, Harvey L. Ozer, Ann S. Henderson

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 165 KB

english, 1995

32

Reply to: Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis

Patsalis, Philippos C

Journal:

Nature Medicine

Year:

2012

Language:

english

File:

PDF, 133 KB

english, 2012

33

Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology

Kyriakou, Skevi, Kypri, Elena, Spyrou, Christiana, Tsaliki, Evdokia, Velissariou, Voula, Papageorgiou, Elisavet A., Patsalis, Philippos C.

Journal:

Prenatal Diagnosis

Year:

2013

Language:

english

File:

PDF, 541 KB

english, 2013

34

Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

Skordis, Nicos, Kyriakou, Andreas, Tardy, Véronique, Ioannou, Yiannis S., Varvaresou, Athanasia, Dracopoulou-Vabouli, Maria, Patsalis, Philippos C., Shammas, Christos, Neocleous, Vassos, Phylactou, Le

Journal:

Hormone Research in Paediatrics

Year:

2011

Language:

english

File:

PDF, 207 KB

english, 2011

35

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

Evangelidou, Paola, Alexandrou, Angelos, Moutafi, Maria, Ioannides, Marios, Antoniou, Pavlos, Koumbaris, George, Kallikas, Ioannis, Velissariou, Voula, Sismani, Carolina, Patsalis, Philippos C.

Journal:

BioMed Research International

Year:

2013

Language:

english

File:

PDF, 2.57 MB

english, 2013

36

SPIE Proceedings [SPIE Biomedical Optics 2005 - San Jose, CA (Saturday 22 January 2005)] Imaging, Manipulation, and Analysis of Biomolecules and Cells: Fundamentals and Applications III - Transillumination spatially modulated illumination microscopy for human chromosome imaging

Nicolau, Dan V., Pitris, Costas, Heracleous, Peter, Enderlein, Joerg, Leif, Robert C., Patsalis, Philippos, Farkas, Daniel L., Raghavachari, Ramesh

Year:

2005

Language:

english

File:

PDF, 573 KB

english, 2005

37

21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features

Panagiota Grigori, Elena Panayiotou, Carolina Sismani, George Koumbaris, Marios Ioannides, Christos Costalos, Zoe Kosmaidou-Aravidou, Ludmila Kousoulidou, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 270 KB

english, 2011

38

A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR

Patsalis, Philippos C.

Journal:

Applied & Translational Genomics

Year:

2012

Language:

english

File:

PDF, 912 KB

english, 2012

39

Towards a European consensus for reporting incidental findings during clinical NGS testing

Hehir-Kwa, Jayne Y, Claustres, Mireille, Hastings, Ros J, van Ravenswaaij-Arts, Conny, Christenhusz, Gabrielle, Genuardi, Maurizio, Melegh, Béla, Cambon-Thomsen, Anne, Patsalis, Philippos, Vermeesch,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 284 KB

english, 2015

40

Phenotype–genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion

Eleftheria Papadopoulou, Carolina Sismani, Christodoulos Christodoulou, Marios Ioannides, Maria Kalmanti, Philippos Patsalis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 192 KB

english, 2010

41

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay

Sismani, Carolina, Armour, John AL, Flint, Jonathan, Girgalli, Christina, Regan, Regina, Patsalis, Philippos C

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 205 KB

english, 2001

42

A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR

Patsalis, Philippos C, Tsaliki, Evdokia, Koumbaris, George, Karagrigoriou, Alex, Velissariou, Voula, Papageorgiou, Elisavet A

Journal:

Expert Opinion on Biological Therapy

Year:

2012

Language:

english

File:

PDF, 415 KB

english, 2012

43

Variation in the Number of FMR1 Microsatellite Repeats in Three Subgroups of the Hellenic Population

MARIA SYRROU, PHILIPPOS PATSALIS, IOANNIS GEORGIOU, YANNIS ALAMANOS and GERASSIMOS PAGOULATOS

Journal:

Year:

1998

Language:

english

File:

PDF, 781 KB

english, 1998

44

Application of two different microarray-based copy-number detection methodologies – array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization – with identical amplifiable target sequences

Kousoulidou, Ludmila, Männik, Katrin, Zilina, Olga, Parkel, Sven, Palta, Priit, Remm, Maido, Kurg, Ants, Patsalis, Philippos C.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

45

Response to the Alvarez Nava and Puerta “Y-chromosome microdeletions in 45,X/46,XY patients”

Philippos C. Patsalis

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

46

SEN6, a locus for SV40-mediated immortalization of human cells, maps to 6q26-27

Banga, Satnam S, Kim, Soo-hyun, Hubbard, Karen, Dasgupta, Tanya, Jha, Krishna K, Patsalis, Philippos, Hauptschein, Robert, Gamberi, Barbara, Dalla-Fevera, Riccardo, Kraemer, Paul

Journal:

Year:

1997

Language:

english

File:

PDF, 795 KB

english, 1997

47

Evaluation of whole-genome amplification using multiple-displacement amplification of a limited number of cells

Bashiardes, Stavros, Salame, Nicole, Patsalis, Philippos C.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

48

Author's response regarding “MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility”

Papageorgiou, Elisavet A., Tsaliki, Evdokia, Koumbaris, George, Patsalis, Philippos C.

Journal:

Prenatal Diagnosis

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

49

Unbalanced Translocations Involving Chromosome Region 10q25.3q26.3 in Patients with Intellectual Disability and Complex Phenotypes

Hryshchenko, Nataliya V., Bychkova, Ganna M., Tavokina, Lyubov V., Brovko, Anton O., Graziano, Claudio, Soloviov, Oleksandr O., Hettinger, Joe A., Patsalis, Philippos C., Lurie, Iosif W., Livshits, Lu

Journal:

Cytogenetic and Genome Research

Year:

2015

Language:

english

File:

PDF, 372 KB

english, 2015

50

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33

Carolina Sismani, Maria Syrrou, Kyproula Christodoulou, Ben Hamel, Jamel Chelly, Helger G. Yntema, Hans van Bokhoven, Meropi Tzoufi, Ioannis Georgiou, Philippos C. Patsalis

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

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