Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

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Items 601–700 of 712

1. Deriving and Using a Risk Figure
   R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
2. The Origins and Consequences of Chromosome Pathology
   R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
3. Structural rearrangements
   R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
4. Cornelia de Lange Syndrome
   Marco A. Grados, Sid Srivastava, Pratik Agarwal, Antonie D. Kline · 2024 · Springer eBooks
5. Gene dose imbalances in children with mental retardation
   Jacqueline Schoumans · 2005 · Figshare
6. Molecular Clinical Genetics and Gene Therapy
   Alan W. Flake · 2006 · Elsevier eBooks
7. Preimplantation Genetic Diagnosis
   R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
8. Cohesin mutation sensitizes cancer cells to anti-PD-1 therapy through endogenous retrovirus-mediated PD-L1 upregulation
   Yumin Han, Fangfei Peng, Yunqi Chang, Tingting Liu, Jiayan Shen, Zizhuo Chen, Qian Dong, Ping Zhou, Feng Jiang, Honggang Xiang et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
9. Microarrays, Postnatal Analysis, and Implications for Growth Monitoring
   Aaron P. Theisen, Lisa G. Shaffer · 2011 · Springer eBooks
10. Genetic studies of neurodevelopmental disorders
    Josephine Wincent · 2012 · Figshare
11. Genetic Factors in the Etiology of Congenital Diaphragmatic Hernia
    Merel Klaassens · 2007 · RePub (Erasmus University Rotterdam)
12. Other Single-Gene Disorders Causing Congenital Heart Disease
    Mark W. W. Russell, Mark Hannibal · 2015 · KARGER eBooks
13. Molecular Genetics of Cohesinopathies
    José Luís Barbero · 2014 · Encyclopedia of Life Sciences
14. Regulation of Imprinted Genes in the brain by the ATRX Chromatin Remodeling Protein
    Kristin D. Kernohan · 2013 · Scholarship@Western (Western University)
15. Response to Dylan Mordaunt and Alisha McLauchlan
    M.I. Boyle, Zeynep Tümer · 2015 · Clinical Genetics
16. CHARACTERIZATION OF THE COHESIN ACETYLTRANSFERASE ECO1 AND ITS ROLE IN NUCLEAR FUNCTIONS
    Shuai Lu · 2013 · KU ScholarWorks (The University of Kansas)
17. Studies of cohesin functions in the yeast and human DNA damage response
    Elin Enervald · 2013 · Figshare
18. Variability in genetic syndromes: Some lessons from history
    Annapia Verri, Chris Oliver · 2010 · Journal of Intellectual Disability Research
19. Deaf-blindness and combined impairments of hearing and vision
    Ulf Rosenhall · 2006 · Hearing Balance and Communication
20. P1: Detailed molecular characterization of a Swedish cohort of Cornelia de Lange syndrome patients
    Jacqueline Schoumans, Paula T. Maguire, Johan Staaf, Goran B Jönsson, Claudia A. L. Ruivenkamp, Ann-Charlotta Thuresson, Ann Nordgren, Gunilla Malm, Åke Borg, Elisabeth Blennow et al. · 2005 · European Journal of Medical Genetics
21. The general anesthesia experience of cornelia de lange syndrome patient - A case report -
    Sang Yun Cho, Woo Jae Jeon, Yung Hyun Cho, Jae Hang Shim, Jong Hoon Yeom, Woo Jong Shin, Kyoung Hun Kim · 2008 · Korean Journal of Anesthesiology
22. Studies of the epigenetic disease mechanism in FSHD
    D. De Greef, Jessica C. de Greef · 2009
23. Developmental Anomalies – Clefts
    Elizabeth J. Leslie, Mary L. Marazita · 2015 · Springer eBooks
24. A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study
    Seyyed-Mohsen Hosseininejad · 2016 · JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
25. February 2010 Case Report: This Is a Case of Cornelia De Lange Syndrome
    Ebtesam Mohamed Abdalla · 2012 · Laboratory Medicine
26. De Lange Syndrome
    Harold Chen · 2015 · Springer eBooks
27. Study of FMR1, MeCP2, NIPBL and SMC1A Promoter Region Methylation in Intellectually Disabled Children in Maharashtra, India
    Shailesh Bajaj, Suvidya H. Ranade · 2016 · Proceedings of the National Academy of Sciences India Section B Biological Sciences
28. Similarities and Differences in the Cohesinopathies of Roberts Syndrome and Cornelia de Lange Syndrome
    Rachel Sternberg · 2016
29. Cytogenetic highlights and transitions
    Nancy Bettina Spinner · 2016 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
30. Epigenetics and Disease
    Adele Murrell · 2015 · Royal Society of Chemistry eBooks
31. Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson
    Antonie D. Kline · 2016 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
32. Le syndrome de Cornelia de Lange : à propos de trois observations
    Fatiha Bennaoui, Nisrine Aboussair, O. Khalil, Mounir Bourrous, G. Draïss, Mohammed Bouskraoui · 2011 · Journal de Pédiatrie et de Puériculture
33. A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome
    Weizhen Xu, Chun-Yue Chen, Xiaoling Chen, Yan Daniel Zhao, Wenting Liu, Zhenfang Du, Xianning Zhang · 2013 · Chinese Medical Journal
34. In vitro veritas: 90 years of biochemistry at Saint Louis University.
    Joel C. Eissenberg, Di Cera E · 2013 · Europe PMC (PubMed Central)
35. Une nouvelle cause de maladie génétique: l’inactivation d’un gène par un transcrit d’ARN antisens
    Dominique Labie · 2004 · médecine/sciences
36. Copy Number Changes
    R. J McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
37. Parental Autosomal Aneuploidy
    Rebecca J Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
38. How Cell Division Facilitates Nuclear Reprogramming
    Jason Fan, Dieter M. Egli · 2013 · Elsevier eBooks
39. The Fragile X Syndromes
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
40. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations
    R. J McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
41. Analysis of Cohesin Function in Gene Regulation and Chromatin Organization in Interphase
    Preksha Gupta, Thais Lavagnolli, Hegias Mira-Bontenbal, Matthias Merkenschlager · 2016 · Methods in molecular biology
42. Determination of An Interaction between Nipped B-Like Protein and MLL
    Adam Robert Marek · 2012 · Loyola eCommons (Loyola University of Chicago)
43. Oral Manifestations in the Cornelia De Lange Syndrome: A Systematic Review of the Dental Literature.
    José González‐Serrano, Víctor Manuel Paredes-Rodríguez, Carlos González-Serrano, Gema Torrijos Gómez, Jorge A. Cano Durán, Juan‐Francisco Peña‐Cardelles, Daniel Ortega Concepción · 2017 · IOSR Journal of Dental and Medical Sciences
44. Roles of the Brca2 and Wapl complexes with Pds5 in sister chromatid cohesion, cohesin localization, and gene expression
    Ziva Misulovin, Michelle Pherson, Maria Gause, Kathie A. Mihindukulasuriya, Dale Dorsett · 2017 · Greater South Information System
45. Novel interaction partners of the chromatin remodeler CHD7, a protein mutated in CHARGE syndrome
    Batsukh Tserendulam · 2012
46. Cornelia de Lange Syndrome-associated mutations in Smc1 cause both sister chromatid cohesion and cohesion-independent defects
    Jingrong Chen, Frank M. Wu, Dean Dawson, Susannah Rankin · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
47. The smc5/6 complex : linking DNA replication with chromosome segregation
    Kristian E. Jeppsson · 2015 · Figshare
48. Two Proximally Close Priority Candidate Genes for diplopodia-1, an Autosomal Inherited Craniofacial-Limb Syndrome in the Chicken: MRE11 and GPR83
    Elizabeth A. O’Hare, Parker B. Antin, Mary E. Delany · 2018 · Journal of Heredity
49. Mutation spectrum of NIPBL gene in Korean patients with Cornelia de Lange syndrome
    왕지영 · 2012 · YUHSpace (Yonsei University Medical Library)
50. Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS)
    Tri Retno Indah Susanti, Meira Erawati, Dwi Retno Nurniningsih · 2019 · Jurnal Ilmu Keperawatan Anak
51. Sacrococcygeal Teratoma in a Singleton Male Instance of Cornelia de Lange Syndrome: A Case Report
    Seyed Reza Samsamshariat · 2019 · International Healthcare Research Journal
52. Cohesion decay: quantitative analysis of partial sister chromatid cohesion
    Mariana Batista Santos · 2014 · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
53. Fetal Lung Surgery
    Gökhan Göynümer, Oluş Api, Murat Yayla, Cihat Şen · 2016 · Donald School Journal of Ultrasound in Obstetrics & Gynecology
54. ABORDAGEM ODONTOLÓGICA SOB ANESTESIA GERAL - SÍNDROME DE CORNÉLIA DE LANGE: RELATO DE CASO
    Maria Carolina Costa · 2019 · Revista Fluminense de Odontologia
55. Laird G. Jackson, MD, FACMG
    Kathy Moran · 2019 · Genetics in Medicine
56. Sister Chromatid Cohesion, Chromosome Instability ( CIN ) and Diseases
    Wei Zhang, Karen Wing Yee Yuen · 2020 · Encyclopedia of Life Sciences
57. Obituary: Laird Jackson
    Ronald J. Wapner, Ignatia B. Van den Veyver, Arthur L. Beaudet · 2020 · Prenatal Diagnosis
58. Pathways—Cohesinopathies
    Matthew A. Deardorff, Ian D. Krantz · 2013 · Elsevier eBooks
59. Characterization of the Cohesin Complex in the Model Organism Neurospora Crassa
    Chaney Michael Hart · 2019 · Scholars' Bank (University of Oregon)
60. Classical Cornelia de Lange syndrome in a neonate
    Abdul Tawab, Madhu George, Ann Mary Zacharias · 2021 · International Journal of Research in Medical Sciences
61. A Mild Form of Bushy Syndrome in a Neonate: A Rare Case Report
    Prayas Ray, U. Deepika, Silpa Tarenia, Anusuya Mishra, Santoshni Samal, Khwairakpam Monika · 2021 · CODS Journal of Dentistry
62. Faculty Opinions recommendation of Mediator and cohesin connect gene expression and chromatin architecture.
    Stephen Dalton, Amar V. Singh · 2010 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
63. Insertions
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
64. Uniparental Disomy and Disorders of Imprinting
    Rebecca J Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
65. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
66. Complex Rearrangements
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
67. Chromosome Analysis
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
68. De Lange Syndrome
    Harold Chen · 2017 · Springer eBooks
69. chromosome abnormalities detected at prenatal diagnosis
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
70. Poster child
    2005 · Nature Genetics
71. Chromosomal Disorders of Sex Development
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
72. De Lange Syndrome
    2005 · Springer eBooks
73. Faculty Opinions recommendation of The kinetochore receptor for the cohesin loading complex.
    Dean Dawson · 2018 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
74. Autosomal Reciprocal Translocations
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
75. De Lange Syndrome
    2012 · Springer eBooks
76. Decision letter: The missing link between genetic association and regulatory function
    2022 · eLife
77. Case study of girl with Cornelia de Lange syndrome
    Adelaida Fábianová, Žofia Frajková, Miroslav Tedla · 2023 · Listy klinické logopedie
78. Изучение влияния дупликации гена STAG2 в раннем нейральном развитии
    2024 · International Multiconference on Bioinformatics of Genome Regulation and Structure / Systems Biology (BGRS/SB)
79. Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome
    Xiao Ting Shao, Yu Xuan Dai, Yaofeng Zhao, Y. Chen, Ling Jing Ying · 2025 · Frontiers in Genetics
80. An In Vitro Assay to Study RSC Remodeling Activity Stimulation by the Cohesin Loader
    Sofía Muñoz · 2025 · Methods in molecular biology
81. Preface to Fourth Edition
    2011 · Oxford University Press eBooks
82. Copyright Page
    2011 · Oxford University Press eBooks
83. Dedication
    2011 · Oxford University Press eBooks
84. Preface to The First Edition
    2011 · Oxford University Press eBooks
85. Cytogenetic Abbreviations and Nomenclature
    Gardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
86. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
    Gardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
87. Determining 95 Percent Confidence Limits, and the Standard Error
    Gardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
88. Epigraph
    2011 · Oxford University Press eBooks
89. Conserved 3D genome reorganization during DNA repair
    Veysel Oğulcan Kaya, Ogün Adebalı, Hanspeter Naegeli, Michelle N. Yancoskie · 2025 · Life Science Alliance
90. Cornelia de Lange Syndrome: A Recipe for Gastrointestinal Disaster? A Case Report
    A Pranav, Pratima R Bhat, Deepak Nayak M · 2025 · Journal of Indian Academy of Forensic Medicine
91. Muerte súbita por malformación intestinal en un Síndrome de Cornelia de Lange
    Elena Sánchez-Sabaté, Enrique de Francisco Enciso, Pilar Molina Aguilar, Cristina De la Presentación Blasco · 2011 · Dialnet (Universidad de la Rioja)
92. Mulibrey nanism : Clinical characteristics and pathophysiologic features of growth restriction, insulin resistance and tumour development
    Niklas Karlberg · 2009 · Työväentutkimus Vuosikirja
93. Additional file 1 of Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology
    Alessandro Umbach, Giulia Maule, Eyemen Kheir, Alessandro Cutarelli, Marika Foglia, Luca Guarrera, Luca L. Fava, Luciano Conti, Enrico Garattini, Mineko Terao et al. · 2022 · Figshare
94. Distinctive Prenatal Sonographic Facial Features in Brachmann-de Lange Syndrome
    Waldo Sepúlveda, Gabriele Tonni, Raquel Garcia-Rodriguez, Amy E. Wong · 2025 · Springer eBooks
95. Expanding the differential diagnosis of bone-forming tumors: a new entity characterized by a NIPBL::BEND2 fusion
    Danielle Andrea Forster, Rashed Al-Khudairi, Fiona Bonar, Alison L. Cheah, Wendy Brown, Richard Boyle, Dörte Wren, Adrienne Margaret Flanagan, Fernanda M Amary, Paul O’Donnell · 2025 · Skeletal Radiology
96. Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening
    Hope M. Retif, Devyn Rohlfs Rivera, Jariya Upadia, Christian Wysocki, Andrew M. Abreo, Luke A. Wall · 2026 · Frontiers in Immunology
97. Spatial Organization of Chromatin Structure in the Central Nervous System
    幸 藤田 · 2022 · Institutional Repositories DataBase (IRDB)
98. The cohesin and mediator complexes control immunoglobulin class switch recombination
    Anne-Sophie Thomas-Claudepierre · 2014 · theses.fr (ABES)
99. Etude du rôle de Condensine dans le contrôle de l'expression génique chez la levure Schizosaccharomyces pombe
    Clémence Hocquet · 2018
100. Rôle de NIPBL dans le développement cardiaque
     Fanny Boulet · 2020