Publications by authors named "Inas Mazen"

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Gonadal Function And Its Evolution In 46, XX Testicular/Ovotesticular DSD.
Margherita Sepich, Silvano Bertelloni, Nina Tyutyusheva, Angela Lucas-Herald, Inas Mazen

J Clin Endocrinol Metab· November 2025

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Continuity of care in Klinefelter syndrome: age-adapted modules for standardized clinical data collection (I-KS).
Corinna Grasemann, Claus H Gravholt, Lexi Breen, Lise Aksglaede, Angela Lucas-Herald, Inas Mazen

Endocr Connect· October 2025

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Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
Heba Amin Hassan, Inas Mazen, Aya Elaidy, Alaa K Kamel, Noura R Eissa

Hormones (Athens)· June 2024

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

Mol Genet Genomics· July 2023

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A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
Inas Mazen, Alaa Kamel, Kenneth McElreavey, Anu Bashamboo, Aya Elaidy

Sex Dev· February 2023

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In vitro cellular reprogramming to model gonad development and its disorders.
Nitzan Gonen, Caroline Eozenou, Richard Mitter, Maëva Elzaiat, Isabelle Stévant, Inas Mazen

Sci Adv· January 2023

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Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Housna Zidoune, Laetitia Martinerie, Daisylyn S Tan, Masomeh Askari, Djalila Rezgoune, Inas Mazen

Sex Dev· March 2022

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Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.
Marianna R Stancampiano, Angela K Lucas-Herald, Jillian Bryce, Gianni Russo, Graziano Barera, Inas Mazen

Sex Dev· March 2022

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Amal M Mohamed, Alaa K Kamel, Maha M Eid, Ola M Eid, Mona Mekkawy, Inas Mazen

Mol Genet Genomic Med· November 2021

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

J Genet Eng Biotechnol· July 2021

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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Inas Mazen, Mona Mekkawy, Alaa Kamel, Mona Essawi, Heba Hassan

Am J Med Genet A· June 2021

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Gonadectomy in conditions affecting sex development: a registry-based cohort study.
Angela K Lucas-Herald, Jillian Bryce, Andreas Kyriakou, Marie Lindhardt Ljubicic, Wiebke Arlt, Inas Mazen

Eur J Endocrinol· May 2021

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Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Mona Essawi, Inas Mazen, Lubna Fawaz, Heba Hassan, Nagham ElBagoury

J Pediatr Endocrinol Metab· July 2020

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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.
Abdelrahman Madian, Maha M Eid, Adel A B Shahin, Inas Mazen, Hala T El-Bassyouni

Reprod Biol· June 2020

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 () gene.
Caroline Eozenou, Nitzan Gonen, Maria Sol Touzon, Anne Jorgensen, Svetlana A Yatsenko, Inas Mazen

Proc Natl Acad Sci U S A· June 2020

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Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
Mona K Mekkawy, Alaa K Kamel, Nabil Dessouky, Mohamed Elgharbawy, Inas Mazen

Sex Dev· June 2020

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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Ken McElreavey, Anne Jorgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Inas Mazen

Genet Med· January 2020

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

Am J Med Genet A· June 2019

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GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Mohamed S Abdel-Hamid, Samira Ismail, Maha S Zaki, Ghada M H Abdel-Salam, Ghada A Otaify, Inas Mazen

Am J Med Genet A· February 2019

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Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies.
Amal Mahmoud Mohamed, Maha S Zaki, Alaa K Kamel, Mahmoud Y Issa, Mona Mekkawy, Inas Mazen

Cytogenet Genome Res· September 2018

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

J Assist Reprod Genet· August 2018

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

Sex Dev· July 2018

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

Sex Dev· July 2018

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.
Mona El-Ruby, Alaa El-Din Fayez, Sara H El-Dessouky, Mona S Aglan, Inas Mazen

Am J Med Genet A· May 2018

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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Marie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, Selma F Witchel, Andrew J Duncan, Inas Mazen

Hum Mol Genet· April 2018

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