Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Cited by (361)

Items 201–300 of 361

1. 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
   Seth A. Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia K. Steinberg, Joshua J. Waterfall, David Roberson, Bari J. Ballew, Weiyin Zhou, Sarah L. Anzick et al. · 2019 · Molecular Case Studies
2. Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
   Taylor D. Real, Prajna Hebbar, DongAhn Yoo, Francesca Antonacci, Ivana Pačar, Danilo Dubocanin, Mark Diekhans, Gregory J Mikol, Oyeronke G. Popoola, Benjamin J. Mallory et al. · 2026 · Cell Genomics
3. Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling
   Agnese Kocere, E. Chiavacci, C. Soneson, Seth T. Jacobson, E. Harrison, K. M. Méndez-Acevedo, J. Macgowan, Harrison H. Wells, Max S. Hiltabidle, Azhwar Raghunath et al. · 2025 · Developmental Biology
4. T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature
   David Beauvais, Aurélie Cabannes‐Hamy, Thierry M Leblanc, Nathalie Dhédin, Magda Alexis, Wendy Cuccuini, Emmanuelle Clappier, Yoann Vial, Nicolas Boissel · 2020 · Journal of Pediatric Hematology/Oncology
5. Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
   Xiaohui Wen, Huanxia Xing, Keyan Qi, Hao Wang, Xiaojun Li, Jianjiang Zhu, Wenqi Chen, Li‐min Cui, Jing Zhang, Hong Qi · 2022 · Disease Markers
6. Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
   Fagui Yue, Xiao Yang, Yuting Jiang, Shibo Li, Ruizhi Liu, Hongguo Zhang · 2023 · Frontiers in Medicine
7. Diagnostic des anomalies chromosomiques par CGH array en pathologie constitutionnelle : la fin du caryotype en première intention
   Valérie Malan, Serge Pierrick Romana · 2012 · Archives de Pédiatrie
8. Evaluation of Anemia, Leukopenia, and Thrombocytopenia
   Carla S. Wilson, Russell K. Brynes · 2011 · Elsevier eBooks
9. Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies.
   Qihong Yu, Shu-Ye Wang, Zhanhe Wu · 2014 · PubMed Central
10. TAR Syndrome, a Rare Case Report with Cleft Lip/Palate
    2012 · The Internet Journal of Pediatrics and Neonatology
11. Thrombocytopenia in the Newborn
    Irene A.G. Roberts, Subarna Chakravorty · 2012 · Elsevier eBooks
12. Systematic assessment of structural variant annotation tools for genomic interpretation
    Xuanshi Liu, Lei Gu, Chanjuan Hao, Wenjian Xu, Fei Leng, Peng Zhang, Wei Li · 2024 · Life Science Alliance
13. Array comparative genomic hybridisation results of non-syndromic children with the conotruncal heart anomaly
    Serdar Mermer, Derya Aydın Şahin · 2022 · Cardiology in the Young
14. Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses
    Marcin Wiśniewski, Mariusz Baumgart, Magdalena Grzonkowska, Zygmunt Siedlecki, Maciej Piec, Michał Szpinda, Katarzyna Pawlak-Osińska · 2019 · Surgical and Radiologic Anatomy
15. Gait Analysis with an Upper Limb Prosthesis in a Child with Thrombocytopenia–Absent Radius Syndrome
    Sebastian Głowiński, Sebastian Pecolt, Andrzej Błażejewski, Igor Maciejewski, Tomasz Królikowski · 2025 · Journal of Clinical Medicine
16. Genetic Overlaps in Mental Retardation, Autism and Schizophrenia
    R. Frank Kooy, Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, Liesbeth Rooms · 2010 · Monographs in human genetics
17. Variant Chromosomes and Abnormalities of No Phenotypic Consequence
    Rebecca J Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
18. Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion
    Sarah Khan, Heather Toews, Jia‐Chi Wang, Jorge Arredondo, John Provias, Gudrun Göhring, Ronald Duncan Barr · 2012 · Journal of Pediatric Hematology/Oncology
19. Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia
    Joseph R. Wax, Chelsea Crabtree, Jacquelyn A. Blackstone, Michael G. Pinette, Angelina Cartin · 2009 · The Journal of Maternal-Fetal & Neonatal Medicine
20. The Ubiquitin/SUMO Pathway and Radial Ray Deficiency Syndromes
    Mohammad Manna Al-Qattan · 2012 · Annals of Plastic Surgery
21. Development of Megakaryocytes
    Nicholas Papadantonakis, Katya Ravid · 2009 · Springer eBooks
22. Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits
    Carlos Ruiz-Arenas, Alejandro Cáceres, Marcos López‐Sánchez, Dolors Pelegrí-Sisó, Josefa González, Juan R. González · 2020 · Genome Research
23. Molecular diagnosis of inherited platelet disorders: a tale of two realities – advanced vs. resource-limited setting
    Seyed Mehrab Safdari, Sina Jozdani, Mahsa Mottaghizadeh-Jazi, Maryam Shayanmanesh, Alireza Khanahmad, Mehdi Bakhtiyaridovvombaygi, Azadeh Rezazadeh, Shadi Tabibian · 2025 · Thrombosis Journal
24. Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers
    Chizobam N. Idahosa, Thomas R. Berardi, Rosalyn Shkolnikov, Eric T. Stoopler · 2013 · Special Care in Dentistry
25. Analysis of Chromosomal Aberrations in Patients with Mental Retardation Using the Array-CGH Technique: a Single Czech Centre Experience
    Eva Zrnová, Vladimíra Vranová, Iva Slámová, Renata Gaillyová, Petr Kuglík · 2011 · Folia Biologica
26. Inherited Bone Marrow Failure and Chromosome Instability Syndromes and their Cancer Predisposition
    Zhan He Wu · 2019 · IntechOpen eBooks
27. Clinical Findings on Chromosome 1 Copy Number Variations
    Filipa Leitão, Ana Grangeia, Joel Pinto, Armanda Passas, Sofia Dória · 2022 · Neuropediatrics
28. Lateral thinking in syndromic congenital cardiovascular disease
    Agnese Kocere, Robert L. Lalonde, Christian Mosimann, Alexa Burger · 2023 · Disease Models & Mechanisms
29. Congenital and Acquired Disorders of Platelet Function and Number
    Shawn M. Jobe, Jorge Di Paola · 2019 · Elsevier eBooks
30. Contemporary Pediatric Hematology and Oncology
    Marwa M. Zakaria, Tamer Hassan · 2019 · IntechOpen eBooks
31. Les thrombopénies génétiques
    Guy Leverger, Arnaud Petit, S. Fasola, Judith Landman‐Parker, Rémi Favier · 2010 · Archives de Pédiatrie
32. Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome
    Asad Jan · 2012 · Clinical Genetics
33. A novel acquired inv(2)(p23.3q24.3) with concurrent submicroscopic deletions at 2p23.3, 2p22.1, 2q24.3 and 1p13.2 in a patient with chronic thrombocytopenia and anemia
    Eigil Kjeldsen · 2015 · Molecular Cytogenetics
34. Congenital Heart Defects
    Rocio T. Moran, Nathaniel H. Robin · 2013 · Elsevier eBooks
35. Gametogenesis and Conception, Pregnancy Loss and Infertility
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
36. The Clinic Is My Laboratory: Life as a Clinical Geneticist
    Judith G. Hall · 2017 · Annual Review of Genomics and Human Genetics
37. Robertsonian Translocations
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
38. Chromosomes
    Michael R. Speicher · 2009 · Springer eBooks
39. Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
    Seth A. Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia K. Steinberg, Joshua J. Waterfall, David Roberson, Bari J. Ballew, Weiyin Zhou, Sarah L. Anzick et al. · 2020 · Molecular Case Studies
40. Atypical Carpal Tunnel Syndrome in a Holt Oram Patient: A Case Report and Literature Review
    James Mace, Srikanth Reddy, Randeep S. Mohil · 2014 · The Open Orthopaedics Journal
41. Platelet Secretion
    Robert C. Flaumenhaft · 2017 · Springer eBooks
42. Genetic Basis of Inherited Bone Marrow Failure Syndromes
    Yigal Dror · 2011 · InTech eBooks
43. Beware of Hemizygous Deletions That May Unmask Deleterious Variants
    Martin Poot · 2012 · Molecular Syndromology
44. In the middle of it all: a centered approach to chromosome analysis
    Lisa G. Shaffer, Blake C. Ballif, Aaron P. Theisen, Emily A. Rorem, Bassem A. Bejjani, Beth A. Torchia · 2008 · Expert Opinion on Medical Diagnostics
45. Next Generation Sequencing in Hematological Disorders
    Iwona Malinowska, Eliza Głodkowska‐Mrówka · 2015 · Elsevier eBooks
46. Thrombocytopaenia with absent radius (not radii)
    Uday Yanamandra, Kamal Kant Sahu, Pankaj Malhotra, Subhash Varma · 2014 · BMJ Case Reports
47. Aplasies médullaires constitutionnelles
    Valérie Mialou, Thierry M Leblanc, Régis Peffault de Latour, J.-H. Dalles, Gèrard Socié · 2011 · Encyclopédie médico-chirurgicale. Hématologie
48. Parental Sex Chromosome Aneuploidy
    Rebecca J Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
49. Prenatal Diagnostic Procedures
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
50. Inherited Thrombocytopenias
    Taizo A. Nakano, Jorge Di Paola · 2018 · Pediatric oncology
51. Congenital and Acquired Disorders of Platelet Function and Number
    Shawn M. Jobe, Jorge Di Paola · 2013 · Elsevier eBooks
52. Elements of Medical Cytogenetics
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
53. Sex Chromosome Translocations
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
54. Segmental Duplications and Genetic Disease
    Feyza Yilmaz, Tamim H. Shaikh, Beverly S. Emanuel · 2017 · Wiley eBooks
55. Prenatal Diagnosis of Chromosomal Abnormalities: From Karyotype to Microarray
    Brynn Levy · 2021 · Wiley eBooks
56. Associated Anomalies in Radial Ray Deficiency
    Claude G. Stoll, Yves Alembik, Marie‐Paule Roth · 2024 · American Journal of Medical Genetics Part A
57. Platelet Secretion
    Robert C. Flaumenhaft · 2025 · Springer eBooks
58. The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review
    Panagiotis Christopoulos, Ermioni Tsarna, Vasiliki Palamouti, Efstathia Davouti, Periklis Makrythanasis, Nikolaos Vlahos · 2026 · Best Practice & Research Clinical Obstetrics & Gynaecology
59. Genetisch bedingte Entwicklungsstörungen der Genitalwege
    Peter F. Wieacker, Susanne Ledig, Nadia Bogdanova · 2011 · Medizinische Genetik
60. Molekulare Karyotypisierung in der klinischen Anwendung
    Andreas Dufke, O. Riess, M. Bonin · 2008 · Medizinische Genetik
61. Thrombocytopenia-Absent Radius Syndrome
    Harold Chen · 2015 · Springer eBooks
62. Selected Syndromes and Chromosomal Disorders
    William Howard McAlister, Thomas E. Herman, Keith A. Kronemer · 2008 · Elsevier eBooks
63. Insights in Megakaryopoiesis and Platelet Biogenesis from Studies of Inherited Thrombocytopenias
    Kathleen Freson · 2016 · Springer eBooks
64. Thrombocytopenia-Absent Radius Syndrome
    2012 · Springer eBooks
65. Inversions
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
66. Chromosome Instability Syndromes
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
67. Autosomal ring chromosomes
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
68. Deriving and Using a Risk Figure
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
69. Fetal Skeletal Abnormalities
    David Ray Griffin, Lyn S. Chitty · 2011 · Elsevier eBooks
70. Spalthand-/Spaltfußfehlbildungen
    Eva Klopocki · 2012 · Medizinische Genetik
71. Next-Generation Sequencing in the Study of Platelets
    Vincenzo Leo · 2017 · Springer eBooks
72. Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient
    Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj H. Panchal · 2017 · Fetal and Pediatric Pathology
73. The Role of Genetic Mutations in Gene RBM8A in Thrombocytopenia-Absent Radius Syndrome
    Shahin Asadi · 2019 · Journal of Genetics and Genome Research
74. The contributions of careful clinical observations: A legacy
    Judith G. Hall · 2021 · American Journal of Medical Genetics Part A
75. [Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].
    Li Ding, Yingzhi Huang, Yeqing Qian, Min-Yue Dong · 2021 · PubMed Central
76. Cancer-Prone Inherited Bone Marrow Failure, Myelodysplastic, and Acute Myeloid Leukemia Syndromes
    Sharon A. Savage, Lisa J. McReynolds, Marena Rebekka Niewisch, Burak Altintas, D. Matthew Gianferante, Blanche P. Alter · 2021 · Springer eBooks
77. Radial Deficiency
    Nick A. van Alphen, Steven Lawrence Moran · 2014 · Springer eBooks
78. The Origins and Consequences of Chromosome Pathology
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
79. Structural rearrangements
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
80. Piastrinopenie costituzionali
    Carlo Luigi Balduini, Patrizia Noris · 2009 · Hematology Meeting Reports
81. Radial Longitudinal Deficiency: Radius Hypoplasia
    Chris Stutz, Scott N. Oishi · 2014 · Springer eBooks
82. Strukturelle Genomvarianten
    R. Ullmann · 2008 · Medizinische Genetik
83. Prenatal Diagnosis by Microarray Analysis
    Joris Robert Vermeesch · 2009 · Wiley eBooks
84. „Immature platelet fraction": Evaluation eines neuen Thrombozytenparameters in der Differentialdiagnose von Thrombozytopenien bei Kindern
    Cora Vollert · 2013 · Universitätsbibliothek der FU Berlin Hochschulschriftenstelle u. Dokumentenserver
85. Limb Development Anomalies: Genetics
    Sylvie Manouvrier‐Hanu, Florence Petit, Muriel Holder‐Espinasse, Fabienne Escande · 2012 · Encyclopedia of Life Sciences
86. Clinical application of microarray-based comparative genomic hybridization in prenatal diagnosis
    Hsiu‐Huei Peng, Ignatia B. Van den Veyver · 2008 · Expert Review of Obstetrics & Gynecology
87. Hematology of childhood and adolescence
    Andrew J. Bellantoni, Avani Mangoli, Michael D. Deel · 2021 · Elsevier eBooks
88. Reciprocal differentiation via GABAergic components and ASD-related phenotypes in hES with 1q21.1 CNV
    Yoshiko Nomura, Jun Nomura, Toru Nishikawa, Toru Takumi · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
89. Preimplantation Genetic Diagnosis
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
90. Prenatal Diagnosis by Microarray Analysis
    Joris Robert Vermeesch · 2015 · Wiley eBooks
91. Deletions and Other Structural Abnormalities of the Autosomes
    Laura Kathleen Conlin, Ada J. S. Chan, Beverly S. Emanuel, Nancy Bettina Spinner · 2024 · Elsevier eBooks
92. TXNIP is a critical regulator of human cardiometabolic health
    Julia-Josefine Scholz, Sharlaine Piel, Ioannis Evangelakos, Christian Müller, Daniela Karall, Birgit Reinhart-Steininger, Katja Steinbrücker, Thomas M. Stulnig, Julia Sarah Rohde, Johannes Adalbert Mayr et al. · 2025 · medRxiv
93. Investigação de fatores genéticos na etiologia de fendas orofaciais típicas
    Milena Simioni · 2012
94. Estudo genético-clínico e molecular da síndrome de Rokitansky-Mayer-Küster-Hauser e condições afins
    C. Cheroki · 2008
95. ‘Mendelian CNVs' Causing Mental Retardation and Developmental Disorders
    Joris Robert Vermeesch, Thomy J.L. de Ravel · 2010 · Monographs in human genetics
96. Genetic Factors in the Etiology of Congenital Diaphragmatic Hernia
    Merel Klaassens · 2007 · RePub (Erasmus University Rotterdam)
97. Molecular diagnosis of developmental disorders
    Linda M. Forsström · 2012 · Työväentutkimus Vuosikirja
98. Variações no número de cópias cromossômicas submicroscópicas como causa de baixa estatura de início pré-natal
    Ana Pinheiro Machado Canton · 2015 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
99. Variação no número de cópias de segmentos de DNA (CNV) em pacientes com surdez sindrômica
    Ana Lúcia Pereira Monteiro Catelani · 2010
100. Genetic testing and chromosomal disorders
     Joris Robert Vermeesch, Karen Buysse · 2012