A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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Items 201–300 of 667

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3. Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability
   Meena Balasubramanian, Sivagamy Sithambaram, Kath Smith · 2015 · Clinical Dysmorphology
4. Genetic contribution to common epilepsies
   Sanjay M. Sisodiya, Heather C. Mefford · 2011 · Current Opinion in Neurology
5. 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
   Simone Gana, Pierangelo Veggiotti, Giusy Sciacca, Cristina Fedeli, Anna Bersano, Giuseppe Micieli, Mohamad Maghnie, Roberto Ciccone, Elena Giulia Rossi, Katie Plunkett et al. · 2012 · European Journal of Human Genetics
6. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism
   HE Yu, Karameh Hawash, Jonathan D. Picker, Joan Marilyn Stoler, David K. Urion, B‐L Wu, Yiping Shen · 2011 · Clinical Genetics
7. Copy number variants in adult patients with Lennox–Gastaut syndrome features
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8. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
   Ashutosh Halder, Manish Jain, Isha Chaudhary, Binuja Varma · 2012 · Molecular Cytogenetics
9. The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences
   Sanne Steen, Sam R. Riedijk, J. Verhagen‐Visser, L. C. P. Govaerts, Malgorzata Ilona Srebniak, Diane Van Opstal, Marieke Joosten, Maarten F. C. M. Knapen, Aad Tibben, Karin E. M. Diderich et al. · 2016 · Journal of Genetic Counseling
10. Intragenic CNTNAP2 Deletions: A Bridge Too Far
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11. Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
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12. Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches
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13. Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome
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14. The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder
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15. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
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16. Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort
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17. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
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18. Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge
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19. Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
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20. Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models
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21. Genomic Copy Number Variations in the Autism Clinic—Work in Progress
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22. Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants
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23. Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia
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24. Reading and Language Disorders: The Importance of Both Quantity and Quality
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25. An interaction-based model for neuropsychiatric features of copy-number variants
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26. DNA methylation as a mediator of genetic and environmental influences on Parkinson’s disease susceptibility: Impacts of alpha-Synuclein, physical activity, and pesticide exposure on the epigenome
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27. Copy number variation and autism: New insights and clinical implications
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28. Role of the DLGAP2 Gene Encoding the SAP90/PSD-95-Associated Protein 2 in Schizophrenia
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29. Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort
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30. Alpha-7 Nicotinic Receptors in Nervous System Disorders: From Function to Therapeutic Perspectives
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31. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
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32. A clinical study of patients with pericentromeric deletion and duplication within 16p12.2–p11.2
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33. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel
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34. Incidental copy-number variants identified by routine genome testing in a clinical population
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35. Maternally derived 15q11.2‐q13.1 duplication in a child with Lennox–Gastaut‐type epilepsy and dysmorphic features: Clinical‐genetic characterization of the family and review of the literature
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36. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6‐year‐old female
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37. Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification
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38. Progress in defining the biological causes of schizophrenia
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39. A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain
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40. Genetic studies of schizophrenia: an update
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41. A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion
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42. Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples
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43. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
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44. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders
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45. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
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46. Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations
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48. Structural variation analysis with strobe reads
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49. 5q11.2 deletion in a patient with tracheal agenesis
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50. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants
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51. Atypical nested 22q11.2 duplications between LCR 22B and LCR 22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
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52. VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
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53. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
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54. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders
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55. Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage‐dependent calcium channels in psychiatric disorders
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56. Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications
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57. A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report
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70. The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity
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71. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
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74. Functional Enrichment Analysis with Structural Variants: Pitfalls and Strategies
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75. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts
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84. Schizophrenia two‐hit hypothesis in velo‐cardio facial syndrome
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93. Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population
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97. Following the genes: a framework for animal modeling of psychiatric disorders
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98. Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
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99. Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
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100. Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
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