S. Szarras: search on Z-Library

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1

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

Ilaslan, Erkut, Calvel, Pierre, Nowak, Dominika, Szarras-Czapnik, Maria, Slowikowska-Hilczer, Jolanta, Spik, Anna, Sararols, Pauline, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila

Journal:

Sexual Development

Year:

2018

Language:

english

File:

PDF, 290 KB

english, 2018

2

Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE)

Thyen, Ute, Ittermann, Till, Flessa, Steffen, Muehlan, Holger, Birnbaum, Wiebke, Rapp, Marion, Marshall, Louise, Szarras-Capnik, Maria, Bouvattier, Claire, Kreukels, Baudewijntje P. C., Nordenstroem,

Journal:

BMC Health Services Research

Year:

2018

Language:

english

File:

PDF, 677 KB

english, 2018

3

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

Cedric Shackleton, Josep Marcos, Ewa M. Malunowicz, Maria Szarras-Czapnik, Petr Jira, Norman F. Taylor, Nuala Murphy, Ellen Crushell, Michael Gottschalk, Berthold Hauffa, Deborah L. Cragun, Robert J.

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 280 KB

english, 2004

4

Structure perfection of some molecular crystals grown from the melt

P. Naumowicz, Dr. S. Szarras

Journal:

Crystal Research and Technology

Year:

1980

Language:

english

File:

PDF, 258 KB

english, 1980

5

Growth spirals of gadolinium gallium garnet (GGG) crystals

P. Naumowicz, K. Wieteska, S. Szarras, J. Cinak

Journal:

Crystal Research and Technology

Year:

1981

Language:

english

File:

PDF, 397 KB

english, 1981

6

Study of low angle boundaries in large crystals of nickel and of iron alloys with nickel or cobalt

A. Modrzejewski, S. Szarras, W. Ziubinski

Journal:

Journal of Crystal Growth

Year:

1968

Language:

english

File:

PDF, 222 KB

english, 1968

7

Application of semiconductor detectors in crystal structure investigations

J. Chwaszczewska, S. Szarras, Z. Szmid, M. Szymczak

Journal:

physica status solidi (a)

Year:

1971

Language:

english

File:

PDF, 381 KB

english, 1971

8

X-Ray and Neutron Studies of the Lineage Structure in Large Aluminium Single Crystals

A. Modrzejewski, S. Szarras

Journal:

physica status solidi (b)

Year:

1964

Language:

english

File:

PDF, 198 KB

english, 1964

9

A Psychosexual Follow-Up Study of Patients with Mixed or Partial Gonadal Dysgenesis

Maria Szarras-Czapnik, Zbigniew Lew-Starowicz, Kenneth J. Zucker

Journal:

Journal of Pediatric and Adolescent Gynecology

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

10

P-23 Bone mineral density and alkaline phosphatase in growth hormone-treated GH-deficient young adults

G.S. Conway, M. Szarras-Czapnik, K. Racz, A. Keller, P. Chanson, A-M. Kappelgaard, M. Zacharin

Journal:

Growth Hormone & IGF Research

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

11

Testicular Pathology in 46,XY Dysgenetic Male Pseudohermaphroditism: An Approach to Pathogenesis of Testis Cancer

JOLANTA SłOWIKOWSKA-HILCZER, MARIA SZARRAS-CZAPNIK, KRZYSZTOF KULA

Journal:

Journal of Andrology

Year:

2001

Language:

english

File:

PDF, 659 KB

english, 2001

12

Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men

O'Hara, L., McInnes, K., Simitsidellis, I., Morgan, S., Atanassova, N., Slowikowska-Hilczer, J., Kula, K., Szarras-Czapnik, M., Milne, L., Mitchell, R. T., Smith, L. B.

Journal:

The FASEB Journal

Year:

2015

Language:

english

File:

PDF, 3.48 MB

english, 2015

13

Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency

Conway, G S, Szarras-Czapnik, M, Racz, K, Keller, A, Chanson, P, Tauber, M, Zacharin, M

Journal:

European Journal of Endocrinology

Year:

2009

Language:

english

File:

PDF, 211 KB

english, 2009

14

The role of rehearsals in self-generated prospective memory tasks

Szarras, Kaja, Niedźwieńska, Agnieszka

Journal:

International Journal of Psychology

Year:

2011

Language:

english

File:

PDF, 100 KB

english, 2011

15

X-ray camera with oscillating crystal and film for studies of single crystals

S. Szarras, L. Bonkowski, J. Auleytner

Year:

1963

Language:

english

File:

PDF, 256 KB

english, 1963

16

Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.

Boudon, C, Lumbroso, S, Lobaccaro, J M, Szarras-Czapnik, M, Romer, T E, Garandeau, P, Montoya, P, Sultan, C

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1995

Language:

english

File:

PDF, 1.25 MB

english, 1995

17

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

File:

PDF, 353 KB

2010

18

High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study

Chrzanowska, Krystyna H., Szarras-Czapnik, Maria, Gajdulewicz, Maria, Kalina, Maria A., Gajtko-Metera, Małgorzata, Walewska-Wolf, Małgorzata, Szufladowicz-Woźniak, Jolanta, Rysiewski, Henryk, Gregorek

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 146 KB

english, 2010

19

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 353 KB

english, 2010

20

Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency

Martens, J. W. M., Lumbroso, S., Verhoef-Post, M., Georget, V., Richter-Unruh, A., Szarras-Czapnik, M., Romer, T. E., Brunner, H. G., Themmen, A. P. N., Sultan, C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 309 KB

english, 2002

21

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehu

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 626 KB

english, 2011

22

Growth Hormone-Releasing Hormone Reverses Secondary Somatotroph Unresponsiveness

ROMER*, T. E., RYMKIEWICZ-KLUCZYNSKA, B., OLIVIER, M., SAGNARD, L., SZARRAS-CZAPNIK, M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1991

Language:

english

File:

PDF, 478 KB

english, 1991

23

X-linked α thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

Jezela-Stanek, Aleksandra, Fisher, Chris, Szarras-Czapnik, Maria, Olczak-Kowalczyk, Dorota, Gibbons, Richard J., Słowikowska-Hilczer, Jolanta, Krajewska-Walasek, Małgorzata

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 269 KB

english, 2009

24

TREATMENT OF GROWTH HORMONE DEFICIENT CHILDREN WITH SOMATOCRININE

Rymkiewicz-Kloczynska, B, Romer, T E, Szarras-Czapnik, M, Olivier, M, Sagnard, L

Journal:

Pediatric Research

Year:

1988

Language:

english

File:

PDF, 153 KB

english, 1988

25

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

Röhle, Robert, Gehrmann, Katharina, Szarras-Czapnik, Maria, Claahsen-van der Grinten, Hedi, Pienkowski, Catherine, Bouvattier, Claire, Cohen-Kettenis, Peggy, Nordenström, Anna, Thyen, Ute, Köhler, Bir

Journal:

BMC Endocrine Disorders

Year:

2017

Language:

english

File:

PDF, 1.67 MB

english, 2017

26

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehu

Journal:

Endocrine Reviews

Year:

2011

Language:

english

File:

PDF, 65 KB

english, 2011

27

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., KÃ¶hler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Meh

Journal:

Year:

2011

Language:

english

File:

PDF, 82 KB

english, 2011

28

Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease

Gach, Agnieszka, Pinkier, Iwona, SaÅaciÅska, Kinga, Szarras-Czapnik, Maria, Salachna, Dominik, KuciÅska, Agata, Rybak-Krzyszkowska, Magda, Sakowicz, Agata

Journal:

Molecular and Cellular Endocrinology

Year:

2020

File:

PDF, 1.91 MB

2020

29

Risk of gonadal neoplasia in patients with disorders/differences of sex development

Slowikowska-Hilczer, Jolanta, Szarras-Czapnik, Maria, Duranteau, Lise, Rapp, Marion, Walczak-Jedrzejowska, Renata, Marchlewska, Katarzyna, Oszukowska, Elzbieta, Nordenstrom, Anna

Journal:

Cancer Epidemiology

Year:

2020

File:

PDF, 421 KB

2020