Nicos A. Skordis: 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

Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia

Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Katerina Kaffe, Vassos Neocleous, Leonidas A. Phylactou

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

3

A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

Toumba, Meropi, Neocleous, Vassos, Shammas, Christos, Anastasiadou, Violetta, Allgrove, Jeremy, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.59 MB

english, 2013

4

Endocrine check-up in adolescents and indications for referral: A guide for health care providers

Sanctis, VincenzoDe, Soliman, AshrafT, Yassin, Mohamed, Skordis, Nicos, Maio, SalvatoreDi, Piacentini, Giorgio, Fiscina, Bernadette, Elsedfy, Heba, Elalaily, Rania, Kholy, MohamedEl

Journal:

Indian Journal of Endocrinology and Metabolism

Year:

2014

Language:

english

File:

PDF, 476 KB

english, 2014

5

Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus

Stavroulla L. Xenophontos, Alkis Pierides, Kyproulla Demetriou, Panicos Avraamides, Panayiotis Manoli, Nafsika Ayrton, Nicos Skordis, Violetta Anastasiadou, George Miltiadous, Marios A. Cariolou

Journal:

Year:

2000

Language:

english

File:

PDF, 20 KB

english, 2000

6

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

7

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia

Vassos Neocleous, Yiannis S. Ioannou, Margarita Bartsota, Constandina Costi, Nicos Skordis, Leonidas A. Phylactou

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 135 KB

english, 2009

8

The incidence of type 1 diabetes mellitus in Greek-Cypriot children and adolescents in 1990–2000

Nicos Skordis, Stasinos Theodorou, Theonitsa Apsiotou, Stavros Stavrou, Evi Herakleous, Savvas C. Savva

Journal:

Pediatric Diabetes

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

9

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

10

Rising incidence of type 1 diabetes mellitus in children and adolescents in Cyprus in 2000–2004

Meropi Toumba, Savvas C Savva, Ioanna Bacopoulou, Theonitsa Apsiotou, Theognosia Georgiou, Stavros Stavrou, Nicos Skordis

Journal:

Pediatric Diabetes

Year:

2007

Language:

english

File:

PDF, 68 KB

english, 2007

11

KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients

Yiannis S. Ioannou, Sian Ellard, Andrew Hattersley, Nicos Skordis

Journal:

Pediatric Diabetes

Year:

2011

Language:

english

File:

PDF, 495 KB

english, 2011

12

Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: A case report and review of the literature

Vassos Neocleous, Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou

Journal:

Year:

2012

Language:

english

File:

PDF, 719 KB

english, 2012

13

The impact of genotype on endocrine complications in thalassaemia major

Nicos Skordis, Monica Michaelidou, Savvas C. Savva, Yiannis Ioannou, Andreas Rousounides, Marina Kleanthous, George Skordos, Soteroulla Christou

Journal:

European Journal of Haematology

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

14

The labyrinth of bone disease in thalassaemia: the search for Ariadne’s thread continues

Journal:

European Journal of Haematology

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

15

Immunosuppressive Therapy in Insulin Dependent Diabetes

Noel K. Maclaren, Janet H. Silverstein, Rebecca P. Spillar, Nicos Skordis, William E. Winter, William J. Riley

Journal:

Pediatrics International

Year:

1987

Language:

english

File:

PDF, 601 KB

english, 1987

16

Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree

Nicos A. Skordis, Daniel G. Stetka, Margaret H. MacGillivray, Saul P. Greenfield

Journal:

The Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 396 KB

english, 1987

17

Familial XX chromosomal maleness does not arise from a Y chromosomal translocation

Harry Ostrer, Gabriela Wright, Mark Clayton, Nicos Skordis, Margaret H. MacGillivray

Journal:

The Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 2.16 MB

english, 1989

18

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

19

Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect

Shammas, Christos, Neocleous, Vassos, Toumba, Meropi, Costi, Constantina, Phedonos, Alexia A.P., Efstathiou, Elisavet, Kyriakou, Andreas, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 205 KB

english, 2012

20

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Maimoun, Laurent, Philibert, Pascal, Cammas, Benoit, Audran, Françoise, Bouchard, Philippe, Fenichel, Patrick, Cartigny, Maryse, Pienkowski, Catherine, Polak, Michel, Skordis, Nicos, Mazen, Inas, Ocal

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 198 KB

english, 2011

21

A report of 2 new cases of MODY2 and review of the literature: Implications in the search for type 2 Diabetes drugs

Shammas, Christos, Neocleous, Vassos, Phelan, Marie M., Lian, Lu-Yun, Skordis, Nicos, Phylactou, Leonidas A.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.67 MB

english, 2013

22

Inherited Susceptibility to Insulin-Dependent Diabetes is Associated with HLA-DR1, while DR5 is Protective

Maclaren, Noel, Riley, William, Skordis, Nicos, Atkinson, Mark, Spillar, Rebecca, Silverstein, Janet, Klein, Ronald, Vadheim, Constance, Rotter, Jerome

Journal:

Year:

1988

Language:

english

File:

PDF, 546 KB

english, 1988

23

Description of the First Two Seemingly Unrelated Greek Cypriot Families with a Common C618R RET Proto-Oncogene Mutation

Neocleous, Vassos, Passalaris, Tina, Spanou, Elena, Kitsios, Petros, Skordis, Nicos, Deltas, C. Constantinou

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 195 KB

english, 2004

24

Expensive therapies in children: benefit versus cost of combined treatment of recombinant human growth hormone and gonadotropin-releasing hormone analogue in girls with poor height potential

Toumba, Meropi, Kokotsis, Vasilis, Savva, Savvas C., Skordis, Nicos

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2014

Language:

english

File:

PDF, 495 KB

english, 2014

25

Dietary Protein Restriction Reduces the Frequency and Delays the Onset of Insulin Dependent Diabetes in BB Rats

Atkinson, Mark A., Winter, William E., Skordis, Nicos, Beppu, Hidehiro, Riley, William M., Maclaren, Noel K.

Journal:

Year:

1988

Language:

english

File:

PDF, 600 KB

english, 1988

26

Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

Neocleous, Vassos, Costi, Constantina, Kyriakou, Christina, Kyriakides, Tassos C, Shammas, Christos, Skordis, Nicos, Toumba, Meropi, Kyriakou, Sophia, Koliou, Maria, Kousparou, Marianna, Onoufriou, Ma

Journal:

Annals of Human Genetics

Year:

2015

Language:

english

File:

PDF, 138 KB

english, 2015

27

A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands

Toumba, Meropi, Neocleous, Vassos, Shammas, Christos, Anastasiadou, Violetta, Allgrove, Jeremy, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.88 MB

english, 2013

28

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

29

No Difference in Pubertal Growth and Final Height between Treated Hypogonadal and Non-Hypogonadal Thalassemic Patients

Caruso-Nicoletti, Manuela, De Sanctis, Vincenzo, Raiola, Giuseppe, Skordis, Nicos, Mancuso, Michele, Coco, Marilena, Wonke, Beatrix

Journal:

Hormone Research

Year:

2004

Language:

english

File:

PDF, 110 KB

english, 2004

30

Incidence of Insulin Dependent Diabetes Mellitus in Greek Cypriot Children And Adolescents, 1990 - 1994

Skordis, Nicos, Hadjiloizou, Stavros

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

1997

Language:

english

File:

PDF, 207 KB

english, 1997

31

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

Neocleous, Vassos, Shammas, Christos, Phedonos, AlexiaAP, Phylactou, LeonidasA, Skordis, Nicos

Journal:

Indian Journal of Endocrinology and Metabolism

Year:

2014

Language:

english

File:

PDF, 490 KB

english, 2014

32

Growth and endocrine disorders in thalassemia: The international network on endocrine complications in thalassemia (I-CET) position statement and guidelines

De Sanctis, Vincenzo, Soliman, AshrafT, Elsedfy, Heba, Skordis, Nicos, Kattamis, Christos, Angastiniotis, Michael, Karimi, Mehran, Yassin, Mohd Abdel DaemMohd, El Awwa, Ahmed, Stoeva, Iva, Raiola, Giu

Journal:

Indian Journal of Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.02 MB

english, 2013

33

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty

Neocleous, Vassos, Shammas, Christos, Phelan, Marie M., Nicolaou, Stella, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Clinical Endocrinology

Year:

2016

Language:

english

File:

PDF, 315 KB

english, 2016

34

Infertility and thyroid disorders

Trokoudes, Krinos M, Skordis, Nicos, Picolos, Michalis K

Journal:

Current Opinion in Obstetrics & Gynecology

Year:

2006

Language:

english

File:

PDF, 136 KB

english, 2006

35

A novelMKRN3nonsense mutation causing familial central precocious puberty

Christoforidis, Athanasios, Skordis, Nicos, Fanis, Pavlos, Dimitriadou, Meropi, Sevastidou, Maria, Phelan, Marie M., Neocleous, Vassos, Phylactou, Leonidas A.

Journal:

Endocrine (Springer)

Year:

2017

Language:

english

File:

PDF, 360 KB

english, 2017

36

Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome

Tanteles, George A., Nicolaou, Nayia, Syrimis, Andreas, Metaxa, Rafaella, Nicolaou, Michael, Christophidou-Anastasiadou, Violetta, Skordis, Nicos

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 188 KB

english, 2017

37

Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms

Votsi, Christina, Toufexis, Costas, Michailidou, Kyriaki, Antoniades, Athos, Skordis, Nicos, Karaolis, Minas, Pattichis, Constantinos, Christodoulou, Kyproula

Journal:

Year:

2017

Language:

english

File:

PDF, 250 KB

english, 2017

38

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Aristidou, Constantia, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Constantinou, Efthymia, Alexandrou, Angelos, Papaevripidou, Ioannis, Christophidou-Anastasiadou, Violetta, Skordis, Nicos, Kits

Journal:

Year:

2018

Language:

english

File:

PDF, 1.59 MB

english, 2018

39

Osteoporosis Syndrome in Thalassaemia Major: An Overview

Toumba, Meropi, Skordis, Nicos

Journal:

Journal of Osteoporosis

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

40

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity

Neocleous, Vassos, Shammas, Christos, Phelan, Marie, Fanis, Pavlos, Pantelidou, Maria, Skordis, Nicos, Mantzoros, Christos, Phylactou, Leonidas, Toumba, Meropi

Journal:

Year:

2016

Language:

english

File:

PDF, 1.62 MB

english, 2016

41

Epidemiology of Type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century

Skordis, Nicos, Efstathiou, Elisavet, Kyriakides, Tassos C., Savvidou, Antria, Savva, Savvas C., Phylactou, Leonidas A., Shammas, Christos, Neocleous, Vassos

Journal:

Year:

2012

Language:

english

File:

PDF, 386 KB

english, 2012

42

ESPE and PES International Survey of Centers and Clinicians Delivering Specialist Care for Children and Adolescents with Gender Dysphoria

Skordis, Nicos, Butler, Gary, de Vries, Martine C., Main, Katharina, Hannema, Sabine E.

Journal:

Hormone Research in Paediatrics

Year:

2018

Language:

english

File:

PDF, 172 KB

english, 2018

43

46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

Neocleous, Vassos, Fanis, Pavlos, Cinarli, Feride, Kokotsis, Vasilis, Oulas, Anastasios, Toumba, Meropi, Spyrou, George M., Phylactou, Leonidas A., Skordis, Nicos

Journal:

Year:

2019

Language:

english

File:

PDF, 490 KB

english, 2019

44

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals

Kousta, Eleni, Papathanasiou, Asteroula, Skordis, Nicos

Journal:

Year:

2010

Language:

english

File:

PDF, 844 KB

english, 2010

45

Gonadal function and fertility issues in Thalassaemia

Journal:

Thalassemia Reports

Year:

2013

File:

PDF, 498 KB

2013