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Akademický článek

IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children

Autor: Islam M. Fadel, Moustafa H. Ragab, Ola M. Eid, Nivine A. Helmy, Hala T. El-Bassyouni, Inas Mazen

Publikováno v: Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-7 (2021)

Abstract Background Insulin-like growth factor-1 (IGF-1) is required for normal intrauterine and postnatal growth, and this action is mediated through IGF1 receptor (IGF1R). IGF1R copy number variants (CNVs) can cause pre- and postnatal growth restri

Externí odkaz: https://doaj.org/article/a4cf0d7ce8fc4cad81802e9f379aa538

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Akademický článek

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Autor: Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

Abstract Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide

Externí odkaz: https://doaj.org/article/1c67282c8740459d9ef6171ea075d21b

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Akademický článek

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Me

Externí odkaz: https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b

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A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis

Autor: Inas, Mazen, Alaa, Kamel, Kenneth, McElreavey, Anu, Bashamboo, Aya, Elaidy, Mohamed S, Abdel-Hamid

Publikováno v: Sexual Development
Sexual Development, 2023, 16 (4), pp.261-265. ⟨10.1159/000520366⟩

International audience; Introduction: Disorders of gonadal development represent a clinically and genetically heterogeneous group of DSD, and the etiology in many cases remains unknown, indicating that our knowledge of factors controlling sex determi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::22cf34d7caa2540c4e27bf83982cd00e
https://hal.science/hal-04150451

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Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism

Publikováno v: SEXUAL DEVELOPMENT
Sexual Development, 15(4), 236-243. Karger
Stancampiano, M R, Lucas-Herald, A K, Bryce, J, Russo, G, Barera, G, Balsamo, A, Baronio, F, Bertelloni, S, Valiani, M, Cools, M, Tack, L J W, Darendeliler, F, Poyrazoglu, S, Globa, E, Grinspon, R, Hannema, S E, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Mladenov, V, Konrad, D, Mazen, I, Niedziela, M, Kolesinska, Z, Nordenström, A & Ahmed, S F 2021, ' Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism : Results of an International Survey from the I-DSD Registry ', Sexual development, vol. 15, no. 4, pp. 236-243 . https://doi.org/10.1159/000516784
Sexual development, 15(4), 236-243. S. Karger AG

It is unclear whether testosterone replacement therapy (TRT) in adolescent boys, affected by a range of endocrine diseases that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72fb0cd0de32df0177d9c31281634f1
http://www.scopus.com/inward/record.url?scp=85110085925&partnerID=8YFLogxK

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Gonadectomy in conditions affecting sex development

Autor: Daniel Konrad, Aneta Gawlik, Rajni Sharma, Olcay Evliyaoğlu, Dejun Li, Marek Niedziela, Jeremy W. Tomlinson, Farida Jennane, Nils Krone, Sukran Poyrazoglu, Evgenia Globa, S Faisal Ahmed, Angela K Lucas-Herald, Inas Mazen, Liat de Vries, Andreas Kyriakou, Katherine Lachlan, Wiebke Arlt, Renata Markosyan, Antonia Brooke, Olaf Hiort, Gil Guerra Júnior, Ruth Krone, Colin Johnston, Gloria Hermann, Antonio Balsamo, Corina Lichiardopol, Hedi L Claahsen-van der Grinten, Vandana Jain, Vilhelm Mladenov, Nataliya Zelinska, Naomi Weintrob, Markus Bettendorf, Simone Fica, Ieuan A. Hughes, Laura Audí, Lidka Lisa, Klaus Mohnike, Mona Ellaithi, Paul-Martin Holterhus, Lavinia Nedelea, Mars Skaeil, Rodolfo Rey, Violeta Iotova, Hannema Se, Silvano Bertelloni, Rieko Tadokoro-Cuccaro, Feyza Darendeliler, Jillian Bryce, Lloyd J.W. Tack, Tulay Guran, Odile Gaisl, Justin H Davies, Martine Cools, Anna Nordenström, Federico Baronio, Marie Lindhardt Ljubicic, Ayla Güven

Publikováno v: European Journal of Endocrinology, 184, 6, pp. 791-801
Lucas-Herald, A K, Bryce, J, Kyriakou, A, Ljubicic, M L, Arlt, W, Audí, L, Balsamo, A, Baronio, F, Bertelloni, S, Bettendorf, M, Brooke, A, Claahsen-van der Grinten, H L, Davies, J, Hermann, G, de Vries, L, Hughes, I A, Tadokoro-Cuccaro, R, Darendeliler, F, Poyrazoglu, S, Ellaithi, M, Evliyaoglu, O, Fica, S, Stejereanu, L, Gawlik, A, Globa, E, Zelinska, N, Guran, T, Güven, A, Hannema, S, Hiort, O, Holterhus, P-M, Iotova, V, Mladenov, V, Jain, V, Sharma, R, Jennane, F, Johnston, C, Guerra-Junior, G, Konrad, D, Gaisl, O, Krone, N P, Krone, R, Lachlan, K, Li, D, Lichiardopol, C, Lisá, L, Markosyan, R L, Mazen, I, Mohnike, K, Niedziela, M, Nordenstrom, A, Rey, R A, Skae, M, Tack, L J, Tomlinson, J W, Weintrob, N, Cools, M & Ahmed, S F 2021, ' Gonadectomy In Conditions Affecting Sex Development-A Registry-Based Cohort Study ', European Journal of Endocrinology, vol. 184, no. 6, pp. 791-801 . https://doi.org/10.1530/EJE-20-1058
European Journal of Endocrinology, 184, 791-801
European Journal of Endocrinology, 184(6), 791-801. BioScientifica Ltd.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(6), 791-801. Bioscientifica Ltd

Objectives To determine trends in clinical practice for individuals with DSD requiring gonadectomy. Design Retrospective cohort study. Methods Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to spec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5736d4ded04c320636341b53c9ff773c
https://pure.eur.nl/en/publications/3d58e4e1-4750-4f4b-a9f2-3b057e09a236

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Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

Publikováno v: Sexual Development
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩

Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06bc2bd44ba1a8418d509c5cf2c5cd40
https://doi.org/10.1159/000515924

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Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Autor: Rania M. A. Abdel kader, Marwa Farid, Maha M. Eid, Mona K. Mekkawy, Inas Mazen, Amany H. Abdelrahman, Ola M. Eid, Hala T. El-Bassyouni, Alaa K. Kamel, Rana Mahrous

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide. Several

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c813177d98ad4a540a3476dd59aa3c
http://link.springer.com/article/10.1186/s43042-020-00090-4

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Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I

Autor: Mona K. Mekkawy, Inas Mazen, Mona L. Essawi, Heba Amin Hassan

Publikováno v: Hormones. 19:573-579

Leydig cell hypoplasia is a rare autosomal recessive 46,XY disorder of sexual development (DSD). It is caused by homozygous or compound heterozygous inactivating mutations in the human luteinizing hormone/chorionic gonadotropin hormone receptor (LHCG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3198fee03acbe20c1708fb188e12de
https://doi.org/10.1007/s42000-020-00226-6

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