Papers matching “chromosomal abnormalities” 110
Not finding it? Sign in to also search OpenAlex live.
-
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 222023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Sylvia A. Koza, Anne Claude Tabet, María Clara Bonaglia, Stephanie Andres, Britt‐Marie Anderlid, Emmelien Aten, +4 more
16citations -
Identification of Y-chromosome Turnover in Newts Fails to Support a Sex Chromosome Origin for the Triturus Balanced Lethal System2025 Genome Biology and Evolution article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
James France, Wiesław Babik, Milena Cvijanović, Katarzyna Dudek, Ana Ivanović, Tijana Z. Vučić, +1 more
4citations -
Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs2020 Birth Defects Research article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pauline C. Schut, Erwin Brosens, Tom J. M. Van Dooren, Frietson F Galis, Clara M. A. ten Broek, Inge M. M. Baijens, +6 more
6citations -
Comprehensive Cytogenetic and Genomic Profiling of the Murine AML12 (Alpha Mouse Liver 12) Hepatocyte Cell Line2026 Cells article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Darine Y. Asar, Stefanie Kankel, Diandra T. Keller, Katja Hardt, Sarah K. Schröder, Eva Miriam Buhl, +2 more
3citations -
Sex‐related differences in aging rate are associated with sex chromosome system in amphibians2021 Evolution article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Hugo Cayuela, Jean‐François Lemaître, Jean‐Paul Léna, Victor Ronget, Íñigo Martínez-Solano, Erin Muths, +42 more
21citations -
Cytogenomic Characterization of Murine Neuroblastoma Cell Line Neuro-2a and Its Two Derivatives Neuro-2a TR-Alpha and Neuro-2a TR-Beta2024 Cells article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Lioba Hergenhahn, Niklas Padutsch, Shaymaa S. Hussein Azawi, Ralf Weiskirchen, Thomas Liehr, Martina Rinčić
14citations -
Divergent evolution of male-determining loci on proto-Y chromosomes of the housefly2024 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Xuan Li, Jae Hak Son, Elzemiek Geuverink, Ece Naz Kıvanç, Yanli Wu, Stephan Schmeing, +10 more
4citations -
The genome of New Zealand trevally (Carangidae: Pseudocaranx georgianus) uncovers a XY sex determination locus2021 BMC Genomics article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Andrew S. Catanach, Mike Ruigrok, Deepa R. Bowatte, Marcus W. Davy, Roy D. Storey, Noémie Valenza-Troubat, +5 more
25citations -
Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy0citations
-
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study2022 Journal of Neurodevelopmental Disorders article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Nienke Bouw, Hanna Swaab, Nicole R. Tartaglia, Lisa Cordeiro, Sophie van Rijn
8citations -
Early impact of X‐ and Y‐chromosome variations ( XXX , XXY , XYY ) on social communication and social emotional development in 1–2‐year‐old children2022 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Nienke Bouw, Hanna Swaab, Nicole R. Tartaglia, Anna Jansen, Sophie van Rijn
5citations -
Linkage Mapping vs. Association: A Comparison of Two RADseq ‐Based Approaches to Identify Markers for Homomorphic Sex Chromosomes in Large Genomes2025 Molecular Ecology Resources article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
James France, Wiesław Babik, Katarzyna Dudek, Marzena Marszałek, Ben Wielstra
3citations -
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jennifer Black, Robert Roger Lebel, Ria Garg, Maayke A. de Koning, Claudia A. L. Ruivenkamp, Himanshu Goel, +1 more
1citations -
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention2020 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Nicole R. Tartaglia, Susan Howell, Shanlee Davis, Karen Kowal, Tanea Tanda, Mariah Ruth Brown, +7 more
49citations -
Neurocognitive and behavioral development in young children (1–7 years) with sex chromosome trisomy2023 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Sophie van Rijn, Kimberly C. Kuiper, Nienke Bouw, Evelien Urbanus, Hanna Swaab
10citations -
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome2021 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Anna Lengyel, Éva Pinti, Thomas Eggermann, György Fekete, Irén Haltrich
8citations -
How relevant is the mouse model for understanding human sex determination?2025 International Journal of Biological Sciences article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Francisco Brito, Chloé Mayère, Aurélie Lardenois, Violaine Regard, Sylwia M. Czukiewska, Cyril Djari, +8 more
1citations -
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Elise Pelgrims, Sally Ann Lynch, Laurens Hannes, Mariëtte J.V. Hoffer, Cindy Melotte, Arie van Haeringen, +2 more
1citations -
The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study2026 Andrology article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab
0citations -
Striatal dopamine transporter binding in adults with 22q11.2 copy number variants: a SPECT study2026 Brain Communications article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
J. Spapens, Carmen F.M. van Hooijdonk, Rik Schalbroeck, Amy L. Sylvester, Erik Boot, Therese A. M. J. van Amelsvoort, +2 more
0citations -
SVision: a deep learning approach to resolve complex structural variants2022 Nature Methods article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Jiadong Lin, Songbo Wang, Peter A. Audano, Deyu Meng, Jacob I. Flores, Walter A. Kosters, +5 more
119citations -
The −KTS splice variant of WT1 is essential for ovarian determination in mice2023 Science article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Elodie P. Gregoire, Marie‐Cécile De Cian, Roberta Migale, Aitana Perea-Gómez, Sébastien Schaub, Natividad Bellido-Carreras, +14 more
75citations -
Characterization of the human fetal gonad and reproductive tract by single-cell transcriptomics2024 Developmental Cell article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Jasin Taelman, Sylwia M. Czukiewska, Ioannis Moustakas, Yolanda W. Chang, Sanne Hillenius, Talia van der Helm, +4 more
31citations -
De novo and somatic structural variant discovery with SVision-pro2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Songbo Wang, Jiadong Lin, Peng Jia, Tun Xu, Xiujuan Li, Y Liu, +4 more
30citations