An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization von Mekkawy, Mona K., El Guindi, Ahmed M., Mazen, Inas M., Fayez, Alaaeldin G., Mohamed, Amal M., Kamel, Alaa K.

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Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications von Mekkawy, Mona K., Mazen, Inas M., Kamel, Alaa K., Vater, Inga, Zaki, Maha S.

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Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development von Mazen, Inas M., Mekkawy, Mona K., Ibrahim, Hanan M., Kamel, Alaa K., Hamza, Rasha T., Elaidy, Aya A.

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Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation von Kamel, Alaa K., Abd El-Ghany, Hoda M., Mekkawy, Mona K., Makhlouf, Manal M., Mazen, Inas M., El Dessouky, Nabil, Mahmoud, Wael, Abd El Kader, Shereen A.

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Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature von Mazen, Inas H., El-Gammal, Mona A., Elaidy, Aya A., Anwar, Ghada M., Ashaat, Engy A., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S.

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Changes over time in sex assignment for disorders of sex development von Kolesinska, Zofia, Ahmed, S Faisal, Niedziela, Marek, Bryce, Jillian, Molinska-Glura, Marta, Rodie, Martina, Jiang, Jipu, Sinnott, Richard O, Hughes, Ieuan A, Darendeliler, Feyza, Hiort, Olaf, van der Zwan, Yvonne, Cools, Martine, Guran, Tulay, Holterhus, Paul-Martin, Bertelloni, Silvano, Lisa, Lidka, Arlt, Wiebke, Krone, Nils, Ellaithi, Mona, Balsamo, Antonio, Mazen, Inas, Nordenstrom, Anna, Lachlan, Katherine, Alkhawari, Mona, Chatelain, Pierre, Weintrob, Naomi

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Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene von Wabitsch, Martin, Funcke, Jan-Bernd, von Schnurbein, Julia, Denzer, Friederike, Lahr, Georgia, Mazen, Inas, El-Gammal, Mona, Denzer, Christian, Moss, Anja, Debatin, Klaus-Michael, Gierschik, Peter, Mistry, Vanisha, Keogh, Julia M, Farooqi, I. Sadaf, Moepps, Barbara, Fischer-Posovszky, Pamela

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Gonadectomy in conditions affecting sex development: a registry-based cohort study von Lucas-Herald, AK, Bryce, J, Kyriakou, A, Ljubicic, ML, Arlt, W, Audi, L, Balsamo, A, Baronio, F, Bertelloni, S, Bettendorf, M, Brooke, A, van der Grinten, HLC, Davies, JH, Hermann, G, de Vries, L, Hughes, IA, Tadokoro-Cuccaro, R, Darendeliler, F, Poyrazoglu, S, Ellaithi, M, Evliyaoglu, O, Fica, S, Nedelea, L, Gawlik, A, Globa, E, Zelinska, N, Guran, T, Guven, A, Hannema, SE, Hiort, O, Holterhus, PM, Iotova, V, Mladenov, V, Jain, V, Sharma, R, Jennane, F, Johnston, C, Guerra, G, Konrad, D, Gaisl, O, Krone, N, Krone, R, Lachlan, K, Li, DJ, Lichiardopol, C, Lisa, L, Markosyan, R, Mazen, I, Mohnike, K, Niedziela, M, Nordenstrom, A, Rey, R, Skaeil, M, Tack, LJW, Tomlinson, J, Weintrob, N, Cools, M, Ahmed, SF

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IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children von Fadel, Islam M, Ragab, Moustafa H, Eid, Ola M, Helmy, Nivine A, El-Bassyouni, Hala T, Mazen, Inas

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Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia von Abdel‐Salam, Ghada M. H., Mazen, Inas, Eid, Maha, Ewida, Nour, Shaheen, Ranad, Alkuraya, Fowzan S.

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly von Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia

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Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry von Stancampiano, Marianna R., Lucas-Herald, Angela K., Bryce, Jillian, Russo, Gianni, Barera, Graziano, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Valiani, Margherita, Cools, Martine, Tack, Lloyd J.W., Darendeliler, Feyza, Poyrazoglu, Sukran, Globa, Evgenia, Grinspon, Romina, Hannema, Sabine E., Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Mladenov, Vilhelm, Konrad, Daniel, Mazen, Inas, Niedziela, Marek, Kolesinska, Zofia, Nordenström, Anna, Ahmed, S. Faisal

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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 von Eid, Ola M, Eid, Maha M, Abdelrahman, Amany H, Abdel kader, Rania M. A, Farid, Marwa, Mahrous, Rana, Mekkawy, Mona K

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7756 Gonadectomy in Individuals with Differences of Sex Development - A Prospective I-DSD Registry Study von O'Connell, Michele Ann, Lucas-Herald, Angela K, Bryce, Jillian, Chen, Minglu, Davies, Justin H, Shnorhavorian, Margarett, Atapattu, Navoda, Bachynska, Inna, Birkebaek, Niels, Cools, Martine, Demir, Korcan, de Vries, Liat, Elsedfy, Heba, Fahmy, Mohamed A B, Globa, Evgenia, Grinspon, Romina, Guaragna-Filho, Guilherme, Guerra-Junior, Gil, Janus, Dominika, Kolesinska, Zofia, Mazen, Inas, O’Connell, Susan M, Seneviratne, Sumudu N, Stancampiano, Marianna, Verkauskas, Gilvydas, Faisal Ahmed, S

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Screening of Genital Anomalies in Newborns and Infants in Two Egyptian Governorates von Mazen, I., El-Ruby, M., Kamal, R., El-Nekhely, I., El-Ghandour, M., Tantawy, S., El-Gammal, M.

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A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis von Mazen, Inas, McElreavey, Kenneth, Eid, Maha M., Bashamboo, Anu, Kamah, Ghada

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Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients von Madian, Abdelrahman, Eid, Maha M., Shahin, Adel A.B., Mazen, Inas, El-Bassyouni, Hala T., Eid, Ola M.

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GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion von Abdel‐Hamid, Mohamed S., Ismail, Samira, Zaki, Maha S., Abdel‐Salam, Ghada M. H., Otaify, Ghada A., Issa, Mahmoud Y., Abdel‐Kader, Mohamed, Girgis, Marian, Aboul‐Ezz, Eman, Mazen, Inas, Aglan, Mona S., Temtamy, Samia A.

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[18 FDG] PET-CT-Based Intensity-Modulated Radiotherapy Treatment Planning of Head and Neck Cancer von El-Bassiouni, Mazen, M.D, Ciernik, I. Frank, M.D, Davis, J. Bernard, Ph.D, El-Attar, Inas, Ph.D, Reiner, Beatrice, M.S, Burger, Cyrill, Ph.D, Goerres, Gerhard W., M.D, Studer, Gabriela M., M.D

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2 von El‐Ruby, Mona, El‐Din Fayez, Alaa, El‐Dessouky, Sara H., Aglan, Mona S., Mazen, Inas, Ismail, Nora, Afifi, Hanan H., Eid, Maha M., Mostafa, Mostafa I., Mehrez, Mennat I., Khalil, Yasmin, Zaki, Maha S., Gaber, Khaled R., Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H.

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