Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

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Items 101–200 of 601

1. B‐cell receptor repertoire sequencing in patients with primary immunodeficiency: a review
   Marie Ghraichy, Jacob D. Galson, Dominic F. Kelly, Johannes Trück · 2017 · Immunology
2. Growth charts for 22q11 deletion syndrome
   Daniel Charles Tarquinio, Marilyn C. Jones, Kenneth Lyons Jones, Lynne M. Bird · 2012 · American Journal of Medical Genetics Part A
3. CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes
   Benjamin J. Landis, David S. Cooper, Robert B. Hinton · 2015 · Cardiology in the Young
4. Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children
   Alex Habel, Michael‐John McGinn, Elaine H. Zackai, Nancy Unanue, Donna M. McDonald‐McGinn · 2012 · American Journal of Medical Genetics Part A
5. Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project
   Sarah J. Hart, Kelly Schoch, Vandana Shashi, Nancy P. Callanan · 2015 · Journal of Genetic Counseling
6. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management
   Sarah E. Biggs, Bailee Gilchrist, Kathleen R. May · 2023 · Current Allergy and Asthma Reports
7. 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy
   Robert G. Wither, Felippe Borlot, A. H. MacDonald, Nancy J. Butcher, Eva W.C. Chow, Anne S. Bassett, Danielle Molinari Andrade · 2017 · Epilepsia
8. The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review
   Oanh Kieu Vo, Alisdair McNeill, Katharina Sophie Vogt · 2018 · American Journal of Medical Genetics Part A
9. 22q and two: 22q11.2 deletion syndrome and coexisting conditions
   Jennifer L. Cohen, Terrence Blaine Crowley, Daniel E. McGinn, Carey McDougall, Marta Unolt, Michele P. Lambert, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald‐McGinn · 2018 · American Journal of Medical Genetics Part A
10. Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome
    Jenny Lingman Framme, Stephan Borte, Ulrika von Döbeln, Lennart L G Hammarström, Sólveig Óskarsdóttir · 2014 · Journal of Clinical Immunology
11. miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome
    Linda M. Brzustowicz, Anne S. Bassett · 2012 · Frontiers in Genetics
12. What Is New in Genetics of Congenital Heart Defects?
    Maria Cristina Digilio, Bruno Marino · 2016 · Frontiers in Pediatrics
13. Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review
    Jelle F. Homans, Isabel N. Tromp, Dino Colo, Tom P. C. Schlösser, Moyo C. Kruyt, Vincent F. X. Deeney, Terrence Blaine Crowley, Donna M. McDonald‐McGinn, René Marten Castelein · 2017 · American Journal of Medical Genetics Part A
14. Neonatal thymectomy in children—accelerating the immunologic clock?
    Àngela Deyà‐Martínez, Aisling M. Flinn, Andrew Richard Gennery · 2020 · Journal of Allergy and Clinical Immunology
15. Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
    Aleksandra Szczawińska-Popłonyk, Eyal Schwartzmann, Zuzanna Chmara, Antonina Głukowska, Tomasz Krysa, Maksymilian Majchrzycki, Maurycy Olejnicki, Paulina Magdalena Ostrowska, Joanna Babik · 2023 · International Journal of Molecular Sciences
16. Challenges in non‐invasive prenatal screening for sub‐chromosomal copy number variations using cell‐free DNA
    Henna V. Advani, Angela N. Barrett, Mark I. Evans, Mahesh Arjandas Choolani · 2017 · Prenatal Diagnosis
17. Coping Strategies Mediate the Effect of Stressful Life Events on Schizotypal Traits and Psychotic Symptoms in 22q11.2 Deletion Syndrome
    Marco Armando, Corrado Sandini, Maëlle Chambaz, Marie Schaer, Maude Schneider, Stéphan Eliez · 2018 · Schizophrenia Bulletin
18. 22q11.2 Deletion Syndrome–Associated Parkinson's Disease
    Erik Boot, Anne S. Bassett, Connie Marras · 2018 · Movement Disorders Clinical Practice
19. Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation
    Takuya Takeichi, John Y.W. Lee, Yusuke Okuno, Yuki Miyasaka, Yuya Murase, Takenori Yoshikawa, Kana Tanahashi, Emi Nishida, Tatsuya Okamoto, Komei Ito et al. · 2022 · Frontiers in Immunology
20. Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test
    Maximilian Schmid, Eric Wang, Patrick E. Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew B. Sparks et al. · 2017 · Fetal Diagnosis and Therapy
21. Surgical Considerations in 22Q11.2 Deletion Syndrome
    Richard E. Kirschner, Adriane L. Baylis · 2014 · Clinics in Plastic Surgery
22. Neurocristopathies
    Kristin E. Noack Watt, Paul A. Trainor · 2013 · Elsevier eBooks
23. Attitude of Families of Patients with Genetic Diseases to Use m-Health Technologies
    Alberto Eugenio Tozzi, Emanuela Carloni, Francesco Gesualdo, Luisa Russo, Massimiliano Raponi · 2014 · Telemedicine Journal and e-Health
24. Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
    Ania Fiksinski, Maude Schneider, Janneke Zinkstok, Danielle A. Baribeau, Samuel J. R. A. Chawner, Jacob A. S. Vorstman · 2021 · Current Psychiatry Reports
25. Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome
    Dominique J. Karas, Gregory Costain, Eva W.C. Chow, Anne S. Bassett · 2012 · Journal of Intellectual Disability Research
26. The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder
    Tara Lynn Wenger, Charlly Kao, Donna M. McDonald‐McGinn, Elaine H. Zackai, Alice Bailey, Robert T. Schultz, Bernice E. Morrow, Beverly S. Emanuel, Hakon H. Hakonarson · 2016 · Scientific Reports
27. Neuroradiographic findings in 22q11.2 deletion syndrome
    Lauren A. Bohm, Tom C. Zhou, Tyler J. Mingo, Sarah L. Dugan, Richard J. Patterson, James D. Sidman, Brianne Barnett Roby · 2017 · American Journal of Medical Genetics Part A
28. Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)
    Caroline Y. Kuo, Rebecca H. Signer, Sulagna C. Saitta · 2018 · Current Allergy and Asthma Reports
29. An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome
    Shugar, Andrea L., Shapiro, Jessica M., Cytrynbaum, Cheryl, Hedges, Stephanie, Weksberg, Rosanna, Fishman, Leona · 2015 · American Journal of Medical Genetics Part A
30. Scoliosis in association with the 22q11.2 deletion syndrome: an observational study
    Jelle F. Homans, Vyaas Baldew, Rob C. Brink, Moyo C. Kruyt, Tom P. C. Schlösser, Michiel L. Houben, Vincent F. X. Deeney, Terrence Blaine Crowley, René Marten Castelein, Donna M. McDonald‐McGinn · 2018 · Archives of Disease in Childhood
31. Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
    Nancy J. Butcher, Erik Boot, Anthony Edward Lang, Danielle Molinari Andrade, Jacob A. S. Vorstman, Donna M. McDonald‐McGinn, Anne S. Bassett · 2018 · American Journal of Medical Genetics Part A
32. Noninvasive screening by cell‐free DNA for 22q11.2 deletion: Benefits, limitations, and challenges
    Francesca Romana Grati, Susan J. Gross · 2019 · Prenatal Diagnosis
33. T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features
    Giuliana Giardino, Carla Borzacchiello, Martina De Luca, Roberta Romano, Rosaria Prencipe, Emilia Cirillo, Claudio Pignata · 2020 · Frontiers in Immunology
34. Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome
    Christina M. Pasick, Donna M. McDonald‐McGinn, Christine Simbolon, David W. Low, Elaine H. Zackai, Oksana A. Jackson · 2013 · Clinical Pediatrics
35. Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
    Anthony P. Y. Liu, Pak‐cheong Chow, Pamela P. W. Lee, Gary T. K. Mok, Wing‐Fai Tang, Elizabeth T. Lau, Stephen T.S. Lam, Kelvin Y.K. Chan, Anita Sik Yau Kan, Adolphus Kai-tung Chau et al. · 2014 · European Journal of Medical Genetics
36. Perioperative Management of Patients With DiGeorge Syndrome Undergoing Cardiac Surgery
    Tze Yeng Yeoh, Federica Scavonetto, Ryan J. Hamlin, Harold M. Burkhart, Juraj Šprung, Toby N. Weingarten · 2014 · Journal of Cardiothoracic and Vascular Anesthesia
37. Presenting symptoms in adults with the 22q11 deletion syndrome
    Annick Vogels, S Schevenels, R Cayenberghs, Eddy Weyts, Griet Van Buggenhout, Ann Swillen, Hilde Van Esch, Thomy J.L. de Ravel, P Corveleyn, Koenraad Devriendt · 2014 · European Journal of Medical Genetics
38. Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome
    Elisa Scariati, Maria Carmela Padula, Marie Schaer, Stéphan Eliez · 2016 · Journal of Neural Transmission
39. Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome
    Charlotte Van den Eynde, Ann Swillen, Elien Lambeens, Nicolas Verhaert, Christian Desloovere, Heleen Luts, Vincent Vander Poorten, Koenraad Devriendt, Greet Hens · 2016 · Journal of Speech Language and Hearing Research
40. The importance of understanding cognitive trajectories
    Ann Swillen · 2016 · Current Opinion in Psychiatry
41. The Skin as a Window into Primary Immune Deficiency Diseases: Atopic Dermatitis and Chronic Mucocutaneous Candidiasis
    Heather K. Lehman, Christopher James Gordon · 2019 · The Journal of Allergy and Clinical Immunology In Practice
42. Inborn errors of thymic stromal cell development and function
    Alexandra Y. Kreins, Stefano Maio, Fatima Dhalla · 2020 · Seminars in Immunopathology
43. Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome
    Lily Van, Nancy J. Butcher, Gregory Costain, Lucas Ogura, Eva W.C. Chow, Anne S. Bassett · 2015 · Genetics in Medicine
44. European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia
    Alexandra Y. Kreins, Fatima Dhalla, Aisling M. Flinn, Evey Howley, Olov Ekwall, ANNA MARIA VILLA, Frank J. T. Staal, Graham Anderson, Andrew Richard Gennery, Georg A. Holländer et al. · 2024 · Journal of Allergy and Clinical Immunology
45. The benefits and limitations of cell‐free DNA screening for 22q11.2 deletion syndrome
    Lorraine Dugoff, Michael T. Mennuti, Donna M. McDonald‐McGinn · 2016 · Prenatal Diagnosis
46. 22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness
    Nicole Martin, Marina Mikhaelian, Cheryl S. Cytrynbaum, Cheryl T. Shuman, David A. Chitayat, Rosanna Weksberg, Anne S. Bassett · 2012 · Journal of Genetic Counseling
47. Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: A national validation study
    Anna M. Rozendaal, Antonius J.M. Luijsterburg, Edwin M. Ongkosuwito, Marie‐José H. van den Boogaard, Esther de Vries, Steven E.R. Hovius, Christl Vermeij‐Keers · 2012 · Journal of Plastic Reconstructive & Aesthetic Surgery
48. Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome
    Elke Loos, Nicolas Verhaert, Annelore Willaert, Koenraad Devriendt, Ann Swillen, Robert Hermans, Katya Op de Beeck, Greet Hens · 2016 · American Journal of Medical Genetics Part A
49. Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review
    Mariela Mosheva, Liran Korotkin, Raquel E. Gur, Abraham Weizman, Doron Gothelf · 2019 · European Child & Adolescent Psychiatry
50. Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction
    Carrie A. Stransky, Marten N. Basta, Donna M. McDonald‐McGinn, Cynthia B. Solot, Denis S. Drummond, Elaine H. Zackai, Don LaRossa, Richard E. Kirschner, Oksana A. Jackson · 2014 · The Cleft Palate-Craniofacial Journal
51. 22q11.2 duplications: Expanding the clinical presentation
    Lauren E. Bartik, Susan Starling Hughes, Meghan M. Tracy, Matthew M. Feldt, Lei Zhang, Jill M. Arganbright, Alison E. Kaye · 2021 · American Journal of Medical Genetics Part A
52. Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review
    Emmy Verheij, Laura S. M. Derks, Inge Stegeman, Hans G. X. M. Thomeer · 2017 · Clinical Otolaryngology
53. Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders
    Christa Lese Martin, David H. Ledbetter · 2017 · JAMA
54. Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome
    Chrystal Chan, Gregory Costain, Lucas Ogura, Candice K. Silversides, Eva W.C. Chow, Anne S. Bassett · 2015 · Journal of Genetic Counseling
55. 22q11.2 deletion syndrome: A tiny piece leading to a big picture
    Donna M. McDonald‐McGinn · 2018 · American Journal of Medical Genetics Part A
56. Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
    Társis Paiva Vieira, Fabíola Paoli Monteiro, Ilária Cristina Sgardioli, Josiane Souza, Agnes Cristina Fett‐Conte, Isabella Lopes Monlleó, Marshall Ítalo Barros Fontes, Têmis Félix, Gabriela Ferraz Leal, Erlane Marques Ribeiro et al. · 2014 · The Cleft Palate-Craniofacial Journal
57. Premorbid adjustment and schizophrenia in individuals with 22q11.2 deletion syndrome
    Tracy Yuen, Eva W.C. Chow, Candice K. Silversides, Anne S. Bassett · 2013 · Schizophrenia Research
58. Schizophrenia-Related Microdeletion Impairs Emotional Memory through MicroRNA-Dependent Disruption of Thalamic Inputs to the Amygdala
    Tae-Yeon Eom, Ildar T. Bayazitov, Kara Anderson, Jing Yu, Stanislav S. Zakharenko · 2017 · Cell Reports
59. Clinical evaluation of patients with a neuropsychiatric risk copy number variant
    Samuel J. R. A. Chawner, Cameron James Watson, Michael John Owen · 2021 · Current Opinion in Genetics & Development
60. Genetic and clinical features of social cognition in 22q11.2 deletion syndrome
    Guido Maria Lattanzi, Antonino Buzzanca, Marianna Frascarelli, Fabio Di Fabio · 2018 · Journal of Neuroscience Research
61. Sleep patterns and problems among children with 22q11 deletion syndrome
    Jill M. Arganbright, Meghan M. Tracy, Susan Starling Hughes, David G. Ingram · 2020 · Molecular Genetics & Genomic Medicine
62. A normative chart for cognitive development in a genetically selected population
    Ania Fiksinski, Carrie E. Bearden, Anne S. Bassett, René S. Kahn, Janneke Zinkstok, Stephen R. Hooper, Wanda M. Tempelaar, Donna M. McDonald‐McGinn, Ann Swillen, Beverly S. Emanuel et al. · 2021 · Neuropsychopharmacology
63. NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
    Dominic Lenz, Jens H. W. Pahl, Fabian H. Hauck, Seham Alameer, Meena Balasubramanian, Ivo Barić, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick et al. · 2021 · Journal of Clinical Immunology
64. Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review
    Chih‐Ping Chen, Jian‐Pei Huang, Yi‐Yung Chen, Schu‐Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yuting Chen, Wenlin Chen, Wayseen Wang · 2013 · Gene
65. Chromosomal microarray analysis—a routine clinical genetic test for patients with schizophrenia
    Kate Baker, Gregory Costain, Wai Lun Alan Fung, Anne S. Bassett · 2014 · The Lancet Psychiatry
66. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
    Magdalena Koczkowska, Jolanta Wierzba, Robert Stanisław Śmigiel, Maria Malgorzata Sasiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata Stefania Lipska-Ziętkiewicz · 2016 · Journal of Applied Genetics
67. Brain Calcification and Movement Disorders
    Vladimir Kostić, Igor N. Petrović · 2017 · Current Neurology and Neuroscience Reports
68. Airway Anomalies in Patients With 22q11.2 Deletion Syndrome: A 5-Year Review
    Joel W. Jones, Meghan M. Tracy, Mollie C. Perryman, Jill M. Arganbright · 2018 · Annals of Otology Rhinology & Laryngology
69. 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
    Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Stella Maiolo, Matteo Trezzi, Maria Cristina Digilio, Annapaola Cirillo, Giuseppe Limongelli, Bruno Marino, Giulio Calcagni et al. · 2022 · Children
70. Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
    Erin Rooney Riggs, David H. Ledbetter, Christa Lese Martin · 2014 · Current Genetic Medicine Reports
71. First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study
    Karl Oliver Kagan, Markus Hoopmann, Theresa Pfaff, Natalia Prodan, Philipp Wagner, Maximilian Schmid, Andreas Dufke, Ulrike Angelika Mau-Holzmann, Sara Yvonne Brucker, Livia Marcato et al. · 2020 · Fetal Diagnosis and Therapy
72. Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
    Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini, Rita Consolini, Angelo Valetto · 2017 · Frontiers in Genetics
73. Clinical variability of chromosome 22q11.2 deletion syndrome
    Oksana R. Boyarchuk, L.A. Volianska, Liubov Dmytrash · 2017 · Central European Journal of Immunology
74. Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism
    Yaffa Serur, Dafin Sofrin Frumber, Keren Daon, Dolly Sobol-Havia, Ronnie Weinberger, Cory Shulman, Doron Gothelf · 2018 · European Psychiatry
75. Lower cortisol levels and attenuated cortisol reactivity to daily-life stressors in adults with 22q11.2 deletion syndrome
    Esther D.A. van Duin, Thomas Vaessen, Zuzana Kasanova, Wolfgang Viechtbauer, Ulrich Reininghaus, Peter Saalbrink, Claudia Vingerhoets, Dennis Hernaus, Jan Booij, Ann Swillen et al. · 2019 · Psychoneuroendocrinology
76. Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome
    Rebecca A Okashah, Kelly Schoch, Stephen R. Hooper, Vandana Shashi, Nancy P. Callanan · 2014 · Journal of Genetic Counseling
77. Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders
    Xuyun Hu, Ruolan Guo, Jun Feng Guo, Zhan Qi, Wei Li, Chanjuan Hao · 2020 · Frontiers in Genetics
78. Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases
    Terrence Blaine Crowley, Ian M. Campbell, Emily J. Liebling, Michele P. Lambert, Lorraine E. Levitt Katz, Jennifer R. Heimall, Alice Bailey, Daniel E. McGinn, Donna M. McDonald‐McGinn, Kathleen E. Sullivan · 2021 · Journal of Allergy and Clinical Immunology
79. Intelligence and visual motor integration in 5-year-old children with 22q11-deletion syndrome
    Sasja N. Duijff, Petra Klaassen, Frits A. Beemer, Henriëtte F. N. Swanenburg de Veye, Jacob A. S. Vorstman, Gerben Sinnema · 2011 · Research in Developmental Disabilities
80. Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review
    Janna N. de Boer, Erik Boot, Lissa van Gils, Thérèse van Amelsvoort, Janneke Zinkstok · 2019 · American Journal of Medical Genetics Part A
81. Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration
    Arezoo Rezazadeh, Eduard Bercovici, Tim‐Rasmus Kiehl, Eva W.C. Chow, Timo Krings, Anne S. Bassett, Danielle Molinari Andrade · 2018 · Annals of Clinical and Translational Neurology
82. Participatory development of a patient–clinician communication tool to enhance healthcare transitions for young people with 22q11.2
    Lorna Kerin, D. Lynch, F. Mcnicholas · 2019 · Irish Journal of Medical Science
83. Genetic investigation for adults with intellectual disability
    Kate Baker, Frances Lucy Raymond, Nicholas James Bass · 2012 · Current Opinion in Neurology
84. How does genetic variation modify ND-CNV phenotypes?
    Thomas J. Dinneen, Fiana Ní Ghrálaigh, Ruth Walsh, Lorna M. Lopez, Louise Gallagher · 2021 · Trends in Genetics
85. The role of the geneticist and genetic counselor in an ACHD clinic
    Ashley Parrott, Stephanie M. Ware · 2012 · Progress in Pediatric Cardiology
86. Genetic Evaluation for Craniofacial Conditions
    Howard M. Saal · 2016 · Facial Plastic Surgery Clinics of North America
87. Childhood manifestations of 22q11.2 deletion syndrome: A Finnish nationwide register‐based cohort study
    Sakari Wahrmann, Leena Kainulainen, Ville Kytö, Johanna Lempainen · 2023 · Acta Paediatrica
88. The chromosome 22q11.2 deletion: From the unification of biomedical fields to a new kind of genetic condition
    Daniel Navon, Uri Shwed · 2012 · Social Science & Medicine
89. Bleeding Disorders in Congenital Syndromes
    Susmita N. Sarangi, Suchitra S. Acharya · 2017 · PEDIATRICS
90. Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson’s disease
    Nancy J. Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R. Marshall, Eva W.C. Chow, Anthony Edward Lang, Stephen W. Scherer, Anne S. Bassett · 2017 · PLoS ONE
91. 22q11 Deletion Syndrome with Vascular Anomalies
    Pierre D. Maldjian, Alison Esteva Sanders · 2018 · Journal of Clinical Imaging Science
92. Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns
    Oksana A. Jackson, Kaitlyn M. Paine, Leanne Magee, Meg Ann Maguire, Elaine H. Zackai, Donna M. McDonald‐McGinn, Susan McCormack, Cynthia B. Solot · 2018 · International Journal of Pediatric Otorhinolaryngology
93. Glutamatergic and GABAergic reactivity and cognition in 22q11.2 deletion syndrome and healthy volunteers: A randomized double-blind 7-Tesla pharmacological MRS study
    Claudia Vingerhoets, Desmond H. Y. Tse, Mathilde J.F. van Oudenaren, Dennis Hernaus, Esther D.A. van Duin, Janneke Zinkstok, Johannes Gerardus Ramaekers, Jacobus F.A. Jansen, Grainne Mary McAlonan, Thérèse van Amelsvoort · 2020 · Journal of Psychopharmacology
94. DGCR8-dependent efficient pri-miRNA processing of human pri-miR-9-2
    Masahiro Nogami, Kazumasa Miyamoto, Yoshika Hayakawa‐Yano, Atsushi Nakanishi, Masato Yano, Hideyuki Okano · 2021 · Journal of Biological Chemistry
95. Otologic and audiologic findings in 22q11.2 deletion syndrome
    Emmy Verheij, Alison Kist, Aebele B. Mink van der Molen, Inge Stegeman, Gijsbert A. van Zanten, Wilko Grolman, Hans G. X. M. Thomeer · 2016 · European Archives of Oto-Rhino-Laryngology
96. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome
    Maria Niarchou, Tyler M. Moore, Sunny X. Tang, Monica E. Calkins, Donna M. McDonald‐McGinn, Elaine H. Zackai, Beverly S. Emanuel, Ruben C. Gur, Raquel E. Gur · 2017 · Journal of Psychiatric Research
97. Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation
    Alfred Lee, Brian L. Chang, Cynthia B. Solot, Terrence Blaine Crowley, Vamsee K. Vemulapalli, Donna M. McDonald‐McGinn, Meg Ann Maguire, Thornton B. Alexander Mason, Lisa M. Elden, Christopher M. Cielo︎ et al. · 2020 · The Cleft Palate-Craniofacial Journal
98. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
    Lindsay R. Freud, Stephanie N. Galloway, Terrence Blaine Crowley, Julie S. Moldenhauer, Ann Swillen, Jeroen Breckpot, ANTONI BORRELL, Neeta L. Vora, Bettina Francesca Cuneo, Hilary A. Hoffman et al. · 2023 · American Journal of Obstetrics and Gynecology
99. European Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO)
    By the Working Group on Writing a European Guideline on Robin Sequence · 2023 · Journal of Craniofacial Surgery
100. An Adult Case of 22q11.2 Deletion Syndrome Diagnosed in a 36-year-old Woman with Hypocalcemia Caused by Hypoparathyroidism and Hashimoto's Thyroiditis
     Yuki Nakada, Ken Terui, Kazunori Kageyama, Yuko Tsushima, Hiroshi Murakami, Yasushi Soma, Takeshi Nigawara, Satoru Sakihara · 2013 · Internal Medicine