Philippos Patsalis: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

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

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

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

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

5

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

6

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

7

FMR1 repeat analysis in patients with ovarian dysfunction or failure

Patsalis, Philippos C.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

8

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

9

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

10

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

Maria Syrrou, Ioannis Georgiou, Maria Grigoriadou, Michael B. Petersen, Sofia Kitsiou, Gerassimos Pagoulatos, Philippos C. Patsalis

Journal:

Genetic Epidemiology

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

11

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

12

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

13

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

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

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

16

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

Jurate Kasnauskiene, Loreta Cimbalistiene, Zivile Ciuladaite, Egle Preiksaitiene, Zita Aušrelė Kučinskienė, Joe A. Hettinger, Carolina Sismani, Philippos C. Patsalis, Vaidutis Kučinskas

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 794 KB

english, 2011

17

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

18

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

19

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

20

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region ofPKD1

Michael Koptides, Rolandos Constantinides, George Kyriakides, Michael Hadjigavriel, Philippos C. Patsalis, Alkis Pierides, C. Constantinou Deltas

Journal:

Year:

1998

Language:

english

File:

PDF, 189 KB

english, 1998

21

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity

Živilė Čiuladaitė, Jūratė Kasnauskienė, Loreta Cimbalistienė, Eglė Preikšaitienė, Philippos C. Patsalis, Vaidutis Kučinskas

Journal:

Journal of Applied Genetics

Year:

2011

Language:

english

File:

PDF, 187 KB

english, 2011

22

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

Philippos C. Patsalis, Michael I. Hadjimarcou, Voula Velissariou, Sophia Kitsiou-Tzeli, Christina Zera, Maria Syrrou, Evangelia Lyberatou, Aspasia Tsezou, Angeliki Galla, Nicos Skordis

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 832 KB

english, 1997

23

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

Philippos C Patsalis, Carolina Sismani, Michael I Hadjimarcou, Sophia Kitsiou-Tzeli, Aspasia Tzezou, Charalambos G Hadjiathanasiou, Voula Velissariou, Evangelia Lymberatou, Nicholas K Moschonas, Nicos

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 4.52 MB

english, 1998

24

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

25

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

26

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

27

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

28

Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations

Hastings, Ros J, Cavani, Simona, Bricarelli, Franca Dagna, Patsalis, Philippos C, Kristoffersson, Ulf

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

29

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

30

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

31

SV40-mediated immortalization of human fibroblasts

Harvey L. Ozer, Satnam S. Banga, Tanya Dasgupta, Jeanmarie Houghton, Karen Hubbard, Krishna K. Jha, Soo-Hyun Kim, Melanie Lenahan, Zeng Pang, Jose R. Pardinas, Philippos C. Patsalis

Journal:

Experimental Gerontology

Year:

1996

Language:

english

File:

PDF, 604 KB

english, 1996

32

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

33

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

34

MAPH: from gels to microarrays

Philippos C. Patsalis, Ludmila Kousoulidou, Carolina Sismani, Katrin Männik, Ants Kurg

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 276 KB

english, 2005

35

P22: MAPH Designer – a web-based program for designing hybridization probes for the new array-MAPH method and array-CGH

Priit Palta, Ants Kurg, Tõnu Möls, Katrin Männik, Ludmila Kousoulidou, Philippos C. Patsalis, Maido Remm

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 51 KB

english, 2005

36

O31: Array-MAPH: a novel microarray technology for genomic analysis

Ludmila Kousoulidou, Katrin Männik, Stavros Bashiardis, George Koumbaris, Carolina Sismani, Olga Žilina, Sven Parkel, Neeme Tõnisson, Maido Remm, Ants Kurg, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 44 KB

english, 2005

37

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

38

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou, Sven Parkel, George Koumbaris, Olga Žilina, Stavros Bashiardes, Elena Spanou, Ants Kurg, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 913 KB

english, 2011

39

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

40

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

41

Effects of transmission of Y chromosome AZFc deletions

Philippos C Patsalis, Carolina Sismani, Lluis Quintana-Murci, Fat/ma Taleb-Bekkouche, Csilla Krausz, Ken McElreavey

Journal:

Year:

2002

Language:

english

File:

PDF, 231 KB

english, 2002

42

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

43

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

44

Distal del(4) (q33) syndrome: Detailed clinical presentation and molecular description with array-CGH

Sofia Kitsiou-Tzeli, Carolina Sismani, George Koumbaris, Marios Ioannides, Emmanuel Kanavakis, Angeliki Kolialexi, Ariadni Mavrou, Vasiliki Touliatou, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 357 KB

english, 2008

45

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

46

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

47

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

48

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery

Elisavet A Papageorgiou, Philippos C Patsalis

Journal:

Year:

2013

Language:

english

File:

PDF, 107 KB

english, 2013

49

Differential DNA Methylation as a Tool for Noninvasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies

Della Ragione, Floriana, Mastrovito, Paola, Campanile, Ciro, Conti, Anna, Papageorgiou, Elisavet A., HultÃ©n, Maj A., Patsalis, Philippos C., Carter, Nigel P., D'Esposito, Maurizio

Journal:

The Journal of Molecular Diagnostics

Year:

2010

Language:

english

File:

PDF, 1.23 MB

english, 2010

50

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