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Genetics

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Articles

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ISCN 2024: An International System for Human Cytogenomic Nomenclature (2024)
https://doi.org/10.1159/isbn.978-3-318-07331-7
Original Article
Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Tugce Oztepe; Feride Iffet Sahin; Aysun Caltik Yilmaz; Esra Baskin; Mehmet Haberal; Yunus Kasim Terzi
https://doi.org/10.1159/000538653
Novel Insights from Clinical Practice
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia
Mohammed Al-Hatou; Abeer Sabry Safan; Mohamed A. Atta; Maria Siddiqi
https://doi.org/10.1159/000538225
Original Article
Revealing the satellite DNA content in Ancistrus sp. (Siluriformes: Loricariidae) by genomic and bioinformatic analysis
Gabriel Esbrisse dos Santos; Carolina Crepaldi; Marcelo João da Silva; Patricia Pasquali Parise-Maltempi
https://doi.org/10.1159/000538926
Novel Insights from Clinical Practice
A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum
Tuğba Daşar; Abdulkerim Kolkıran; Abdullah Sezer; Ercan Bal; Esra Kılıç
https://doi.org/10.1159/000537869
Original Article
Environmental (and random?) sex determination in endangered and invasive Phelsuma geckos
Tomáš Peš; Barbora Straková; Lukáš Kratochvíl
https://doi.org/10.1159/000538906
Novel Insights from Clinical Practice
A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes
Semih Sandal; Gulsum Kayhan; Dilek Kahvecioglu; Emine Vezir; Ayse Kilic; Aslihan Köse; Melda Tas Ersun; Turan Derme; Yusuf Bahap; Selim Dereci; Samil Hizli
https://doi.org/10.1159/000538395
Original Article
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey
Hatice Kocak Eker; Ozgur Balasar
https://doi.org/10.1159/000538300
Novel Insights from Clinical Practice
Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report
Nada Amllal; Jaber Lyahyai; Siham Chafai Elalaoui; Youssef El Kadiri; Abdelaziz Sefiani
https://doi.org/10.1159/000538115
Original Article
Comparative Cytogenetics in Tyrannidae (Aves, Passeriformes): High Genetic Diversity despite Conserved Karyotype Organization
Diego Madruga Saraiva; Marcelo Santos de Souza; Victoria Tura; Vitor Oliveira de Rosso; Edison Zefa; Analía del Valle Garnero; Ricardo José Gunski; Francisco de Menezes Cavalcante Sassi; Marcelo de Bello Cioffi; Rafael Kretschmer
https://doi.org/10.1159/000538586
Novel Insights from Clinical Practice
Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome
Nezaket Ezgi Güven; Hacer Uçmak; Çiğdem İlter Uçar; Merve Havan; Miraç Yıldırım; Serap Teber; Tanıl Kendirli
https://doi.org/10.1159/000538015
Original Article
A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
Tufail Akbar Mughal; Muhammad Asim; Syed Haseeb ul Hassan Gillani; Nimra Obaid Chughtai; Syeda Afifa Batool; Amir Hussain; Kulsoom Shujaat; Syed Zohaib Tayyab Gilani
https://doi.org/10.1159/000538039
Novel Insights from Clinical Practice
EEF2 -Related Neurodevelopmental Disorder Is Clinically Recognizable
Pankaj Prasun; Kamakhya Patra
https://doi.org/10.1159/000538059
Novel Insights from Clinical Practice
Genetic Variability of SOX10 -Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
Ludovico Graziani; Miriam Lucia Carriero; Flavio Pozzi; Chiara Minotti; Aikaterini Andreadi; Alfonso Bellia; Rosario Ruta; Mario Bengala; Antonio Novelli; Davide Lauro; Giuseppe Novelli
https://doi.org/10.1159/000536574
Novel Insights from Clinical Practice
A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features
Merve Soğukpınar; Beren Karaosmanoğlu; Gülen Eda Utine; Koray Boduroğlu; Pelin Özlem Şimşek-Kiper
https://doi.org/10.1159/000537952
Obituary
The Legacy of George M. Martin: From Segmental Progeroid Syndromes to Antigeroid Syndromes
Martin Poot
https://doi.org/10.1159/000537967
Letter
Community Voices and Whole-Genome Sequencing for Tuberculosis: Storytelling and the Importance of Listening
Justin T. Denholm; Diego S. Silva
https://doi.org/10.1159/000537727
Original Article
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants
Gizem Ürel-Demir; Burak Başer; Rahşan Göçmen; Pelin Özlem Şimşek-Kiper; Gülen Eda Utine; Göknur Haliloğlu
https://doi.org/10.1159/000537831
Novel Insights from Clinical Practice
Molecular Analysis of Parthenogenetic Chimerism in a 46,XX/46,XY Patient with Idiopathic Oligoasthenoteratozoospermia
Yunjie He; Yuying Yan; Yuanyuan Lv; Jian Zeng
https://doi.org/10.1159/000538396
Prelims
https://doi.org/10.1159/000538163
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