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

Author:

Chrzanowska Krystyna H.1,Szarras-Czapnik Maria2,Gajdulewicz Maria1,Kalina Maria A.3,Gajtko-Metera Małgorzata2,Walewska-Wolf Małgorzata4,Szufladowicz-Woźniak Jolanta4,Rysiewski Henryk5,Gregorek Hanna6,Cukrowska Bożena7,Syczewska Małgorzata8,Piekutowska-Abramczuk Dorota1,Janas Roman9,Krajewska-Walasek Małgorzata1

Affiliation:

1. Department of Medical Genetics (K.H.C., M.G., D.P.-A., M.K.-W.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

2. Department of Metabolic Diseases, Endocrinology and Diabetology (M.S.-C., M.G.-M.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

3. Department of Pediatrics, Pediatric Endocrinology and Diabetes (M.A.K.), Medical University of Silesia, 40-752 Katowice, Poland

4. Departments of Gynecology (M.W.-W., J.S.-W.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

5. Pediatrics (H.R.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

6. Microbiology and Clinical Immunology (H.G.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

7. Pathology (B.C.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

8. Rehabilitation (M.S.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

9. Radioimmunology (R.J.), The Children’s Memorial Health Institute, 04-730 Warsaw, Poland

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference40 articles.

1. Chromosomal instability syndromes other than ataxia-telangiectasia;Wegner;In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. A molecular and genetic approach. 2nd ed. Oxford, UK: Oxford University Press;,2007

2. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.;Carney;Cell,1998

3. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.;Varon;Cell,1998

4. Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair.;Czornak;J Appl Genet,2008

5. Chromosome breakage syndromes and cancer.;Duker;Am J Med Genet,2002

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