Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett +32 more·2008·Nature Genetics
DOI 10.1038/ng.279
Cited by (625)
Items 601–625 of 625
- Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case SeriesXiaojin Luo, Xiaohang Chen, Yanli Tang, Liu Li, Jinmao Xu, Liping Wu, Yuanyuan Pei, Weiqiang Liu, Fengxiang Wei · 2025 · Fetal Diagnosis and Therapy
- Preface to Fourth Edition2011 · Oxford University Press eBooks
- Copyright Page2011 · Oxford University Press eBooks
- Dedication2011 · Oxford University Press eBooks
- Preface to The First Edition2011 · Oxford University Press eBooks
- Cytogenetic Abbreviations and NomenclatureGardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
- Ideograms of Human Chromosomes, and Haploid Autosomal LengthsGardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
- Determining 95 Percent Confidence Limits, and the Standard ErrorGardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
- Epigraph2011 · Oxford University Press eBooks
- Translational Research Methods: Basics of Renal Molecular BiologyGian Marco Ghiggeri, Maurizio Bruschi, Simone Sanna‐Cherchi · 2015 · Springer eBooks
- Copy number variants (CNVs) interfere with human accelerated regions (HARs) in neurodevelopmental disorders: a large-scale cohort studyIuditskaia, Maria E., Semina, Ekaterina V., Pankratova, Elizaveta D., Kurinnaia, Oksana S., Guldan, Elizaveta V., Abasov, Elvin H., Iourov, Ivan Y., Chaika, Yulia A. · 2026 · Scientific Reports
- Nouvelle technique de détection simultanée des variant ponctuels et des copy number variants dans l’obésité monogéniqueMehdi Derhourhi · 2018 · theses.fr (ABES)
- Caractérisation moléculaire des remaniements chromosomiques chez des patients atteints d’anomalies congénitales ou de troubles de la reproduction par technique de séquençage Haut-débitTony Yammine · 2020 · theses.fr (ABES)
- TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signalingJennifer Mott, Zifei Pei, Jiawan Sun, Choong H. Lee, Twishi Puri, Zander M Sachs, Ana Aviles Vargas, Nicholas Blaha, Mabel M. B. Tong, Aimin Liu et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- A LINE-1 insertion upstream of FOXP2 promotes neuronal differentiation during primate evolutionJinhao Liu, Zihang Yin, Yonglin Peng, Shuang Cui, Bo Shi, Xinrui Jiang, Ziyi Yang, Sijie Gu, Yude Lin, Lingfeng Xu et al. · 2026 · Genome biology
- TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signalingYingwei Mao, Jennifer Mott, Zifei Pei, Jiawan Sun, Choong Lee, Twishi Puri, Zander M Sachs, Ana Aviles Vargas, Nicholas Blaha, Mabel M. B. Tong et al. · 2026 · Research Square
- Early Developmental Sequelae and Neurobiological Phenotype of Patient With 1q24.2q44 TrisomyCaitlin M. Hudac, Cecilia Thomas, Emily Neger, Jessica L. Bradshaw · 2026 · PEDIATRICS
- Telomere Shortening and p16-Associated Senescence in MyofibromasBoutaina Boulouadnine, Carlota Rovira, Stéphanie Gofflot, Bénédicte Brichard, Anabelle Decottignies, Jean‐Baptiste Demoulin · 2026 · Laboratory Investigation
- Clinical and neurodevelopmental features of chromosome 1 copy number variations in childrenAylin Yüksel Ülker, Esra Usluer, İbrahim Kaplan · 2026 · Brain and Development
- All-in-one exome sequencing approach for genetic testing of unexplained premature ovarian insufficiencyAnu Valkna, Triin Kikas, Ülle Jakovlev, Oliver Mõttus, Avirup Dutta, Külli Erlang, Margus Punab, Kristiina Rull, Maris Laan · 2026 · Human Reproduction Open
- Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case seriesBhabani Pegu, Sushma Tirounavoucarassou, Usha Devi R, Murugesan Ambalakkuthan · 2026 · Research Square
- Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype–phenotype correlations and clinical implicationsGamze Mutlucan Köseoğlu, Ahmet Cevdet Ceylan, Büşranur Çavdarlı, Emel Ömercioğlu, Esra Çöp, Esra Kılıç · 2026 · European Journal of Pediatrics
- Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case SeriesTuna Eren Esen, Lale Yilmaz Celik, Aydeniz Aydın Gümüş, Pelin Ercoşkun, Serdar Bozlak, Alper Gezdirici, Cüneyd Yavaş, Ilknur Yilmaz · 2026 · Genes
- Genetic Insights into the Comorbidity of Congenital Heart Disease and Neurodevelopmental Disorders: Focus on Copy Number VariationsZiyi Ye, Yingzhong He, Jing Guo, Jiajia Meng, 胥雨菲, Yingyan Wang, Bo Wang · 2026 · Journal of Cardiovascular Development and Disease
- Neurogenetic Risk Mechanisms of Schizophrenia: An Imaging Genetics ApproachAndreas Meyer‐Lindenberg · 2009 · Springer eBooks