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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

Surgical Excision of Pseudotumorous Pretibial Myxedema

Pingsmann, A., Ockenfels, H. M., Patsalis, T.

Journal:

Foot & Ankle International

Year:

1996

Language:

english

File:

PDF, 845 KB

english, 1996

3

Use of Sodium Thiosulfate to Quench Hypochlorite Solutions Prior to Chlorate Analysis

Boal, Andrew K., Patsalis, Fotios I.

Journal:

Journal - American Water Works Association

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

4

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches

Patsali, Petros, Kleanthous, Marina, Lederer, Carsten W.

Journal:

Molecular Diagnosis & Therapy

Year:

2019

Language:

english

File:

PDF, 1.75 MB

english, 2019

5

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

6

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

7

Salvage of the failed Keller-Brandes operation by metatarsophalangeal fusion

H. Georgousis, T. Patsalis, R. Bertram

Journal:

Foot and Ankle Surgery

Year:

1996

Language:

english

File:

PDF, 207 KB

english, 1996

8

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

9

Pitfalls in diagnosis and management of septic arthritis of the should in adults

H. Georgousis, T. Patsalis

Journal:

Journal of Shoulder and Elbow Surgery

Year:

1996

Language:

english

File:

PDF, 137 KB

english, 1996

10

P-14. Y chromosome AZFc deletions present in 45X/46,XY chromosomal mosaic patients with Turner stigmata and sexual ambiguities: consequences for ICSI?

PC Patsalis, C Sismani, A Ioulianos, C Eftychi, C Krausz, Fatima, L Quintana-Murci, K McElreavey

Journal:

Reproductive BioMedicine Online

Year:

2002

Language:

english

File:

PDF, 213 KB

english, 2002

11

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

12

Mosaic Trisomy r(14) Associated With Epilepsy and Mental Retardation

Tzoufi, M., Kanioglou, C., Dasoula, A., Asproudis, I., Tsatsoulis, A., Sismani, C., Patsalis, P. C., Georgiou, I., Syrrou, M.

Journal:

Journal of Child Neurology

Year:

2007

Language:

english

File:

PDF, 235 KB

english, 2007

13

Long-term survivorship of stemless anatomical shoulder replacement

Beck, Sascha, Beck, Verena, Wegner, Alexander, Dudda, Marcel, Patsalis, Theodor, Jäger, Marcus

Journal:

International Orthopaedics

Year:

2018

Language:

english

File:

PDF, 927 KB

english, 2018

14

Minimum 2 Year Prospective Follow-Up on a Laterally Placed Trabecular Metal Total Ankle Arthroplasty

Younger, Alastair S.E., Usuelli, Federico G., Bohay, Donald, Krause, Fabian, Giza, Eric, Patsalis, Theo, Parekh, Selene G., Raikin, Steve, Ellington, Kent, Tiusanen, Hannu

Journal:

Foot & Ankle Orthopaedics

Year:

2019

Language:

english

File:

PDF, 137 KB

english, 2019

15

Cementless vs Cemented Total Ankle Arthroplasty: A Prospective Comparison of the Laterally Placed Trabecular Metal Ankle

Younger, Alastair S.E., Usuelli, Federico G., Bohay, Donald, Krause, Fabian, Giza, Eric, Patsalis, Theo, Parekh, Selene G., Raikin, Steve, Ellington, Kent

Journal:

Foot & Ankle Orthopaedics

Year:

2019

Language:

english

File:

PDF, 160 KB

english, 2019

16

Cementless vs Cemented Total Ankle Arthroplasty: A Prospective Comparison of the Laterally Placed Trabecular Metal Ankle

Younger, Alastair S.E., Usuelli, Federico G., Bohay, Donald, Krause, Fabian, Giza, Eric, Patsalis, Theo, Parekh, Selene G., Raikin, Steve, Ellington, Kent

Journal:

Foot & Ankle Orthopaedics

Year:

2019

File:

PDF, 160 KB

2019

17

Minimum 2 Year Prospective Follow-Up on a Laterally Placed Trabecular Metal Total Ankle Arthroplasty

Younger, Alastair S.E., Usuelli, Federico G., Bohay, Donald, Krause, Fabian, Giza, Eric, Patsalis, Theo, Parekh, Selene G., Raikin, Steve, Ellington, Kent, Tiusanen, Hannu

Journal:

Foot & Ankle Orthopaedics

Year:

2019

File:

PDF, 137 KB

2019

18

Gene Therapy Getting Personal: Mutation-Specific Editing and Gene Addition Strategies for Î²-Thalassaemia

Lederer, Carsten W., Patsali, Petros, Mussolino, Claudio, Turchiano, Giandomenico, Papasavva, Panayiota, Romito, Marianna, Stephanou, Coralea, Cornu, Tatjana I., Kolnagou, Annita, Christou, Soteroula,

Journal:

Year:

2019

Language:

english

File:

PDF, 600 KB

english, 2019

19

A systematic review of surgical treatments of idiopathic intracranial hypertension (IIH)

Kalyvas, Aristotelis, Neromyliotis, Eleftherios, Koutsarnakis, Christos, Komaitis, Spyridon, Drosos, Evangelos, Skandalakis, Georgios P., Pantazi, Mantha, Gobin, Y. Pierre, Stranjalis, George, Patsali

Journal:

Neurosurgical Review

Year:

2020

File:

PDF, 600 KB

2020

20

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

21

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

22

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability

Patsalis, P.C., Sismani, C., Hettinger, J.A., Boumba, I., Georgiou, I., Stylianidou, G., Anastasiadou, V., Koukoulli, R., Pagoulatos, G., Syrrou, M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 126 KB

english, 1999

23

Genetic variation and intergenerationalFMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population

Patsalis, P.C., Sismani, C., Stylianou, S., Ioannou, P., Joseph, G., Manoli, P., Holden, J.J.A., Hettinger, J.A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy

A Tsezou, Ch Hadjiathanasiou, D Gourgiotis, A Galla, Em Kavazarakis, A Pasparaki, M Kapsetaki, C Sismani, Ch Theodoridis, Pc Patsalis, N Moschonas, S Kitsiou

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 233 KB

english, 1999

35

A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design

A. Ioulianos, C. Sismani, N. Fourouclas, T. Patroclou, C. Sergiou, P. C. Patsalis

Journal:

International Journal of Andrology

Year:

2002

Language:

english

File:

PDF, 124 KB

english, 2002

36

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

37

Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Sofia Kitsiou-Tzeli, Carolina Sismani, Margarita Karkaletsi, Lina Florentin, Anastassios Anastassiou, George Koumbaris, Paola Enangelidou, Emmanouil Agapitos, P. C. Patsalis, Voula Velissariou

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 94 KB

english, 2008

38

Erratum: Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Sofia Kitsiou-Tzeli, Carolina Sismani, Margarita Karkaletsi, Lina Florentin, Anastassios Anastassiou, George Koumbaris, Paola Evangelidou, Emmanouil Agapitos, P. C. Patsalis, Voula Velissariou

Journal:

Prenatal Diagnosis

Year:

2010

Language:

english

File:

PDF, 24 KB

english, 2010

39

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

40

Shear and tensile strength of hydroxyapatite coating under loading conditions

R. T. Müller, T. Patsalis

Journal:

Archives of Orthopaedic and Trauma Surgery

Year:

1997

Language:

english

File:

PDF, 562 KB

english, 1997

41

The treatment of Legg-Calvé-Perthes disease

H. Grasemann, R. D. Nicolai, T. Patsalis, M. Hövel

Journal:

Archives of Orthopaedic and Trauma Surgery

Year:

1997

Language:

english

File:

PDF, 509 KB

english, 1997

42

Quality of bone transplantation procedure in West German orthopaedic hospitals

R. T. Müller, T. Patsalis

Journal:

Archives of Orthopaedic and Trauma Surgery

Year:

1994

Language:

english

File:

PDF, 368 KB

english, 1994

43

Arthroskopisch assistierte Arthrodese des Glenohumeralgelenks

K. Hiersemann, T. Patsalis, G. Saxler

Journal:

Der Unfallchirurg

Year:

2007

Language:

german

File:

PDF, 873 KB

german, 2007

44

Korrektur des rheumatischen Vorfußes

S. Heitkemper, A. Pingsman, A. Quitmann, T. Patsalis

Journal:

Year:

2007

Language:

german

File:

PDF, 497 KB

german, 2007

45

Clinical impact of TP53 alterations in adrenocortical carcinomas

Jens Waldmann, Nikolaos Patsalis, Volker Fendrich, Peter Langer, Wolfgang Saeger, Brunhilde Chaloupka, Annette Ramaswamy, Martin Fassnacht, Detlef K. Bartsch, Emily P. Slater

Journal:

Langenbeck's Archives of Surgery

Year:

2012

Language:

english

File:

PDF, 305 KB

english, 2012

46

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

47

Die AES-Sprunggelenksprothese

Journal:

Fuß & Sprunggelenk

Year:

2004

File:

PDF, 218 KB

2004

48

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

49

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

50

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

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