Search Results - "22q11 deletion syndrome"

The role of autoantibodies in the neuropsychiatric manifestations of 22q11 deletion syndrome.

Authors: Ali S Pearce BD

Source: Acta neuropsychiatrica [Acta Neuropsychiatr] 2025 Nov 26; Vol. 37, pp. e90. Date of Electronic Publication: 2025 Nov 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9612501 Publication Model: Electronic Cited Medium: Internet ISSN: 1601-5215 (Electronic) Linking ISSN: 09242708 NLM ISO Abbreviation: Acta Neuropsychiatr Subsets: MEDLINE

Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.

Authors: Duckett KA Poupore NS Carroll WW et al.

Source: The Laryngoscope [Laryngoscope] 2024 Jun; Vol. 134 (6), pp. 2551-2561. Date of Electronic Publication: 2023 Dec 05.

Publication Type: Journal Article; Systematic Review; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE

22q.11: a Risk Factor for Left Pulmonary Artery Hypoplasia in Congenital Heart Disease.

Authors: Oliver SL Ward CJB

Source: Cardiology in the young [Cardiol Young] 2025 Jul; Vol. 35 (7), pp. 1377-1381. Date of Electronic Publication: 2025 Jul 28.

Publication Type: Journal Article

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome

Authors: Lasprilla-Tovar J Zuluaga NA Forero C et al.

Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Feb 27; Vol. 15 (1), pp. 16-24. Date of Electronic Publication: 2022 Aug 19.

Publication Type: Journal Article

Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

Authors: Ayoub S De Clercq E Cytrynbaum C et al.

Source: PloS one [PLoS One] 2025 Jan 09; Vol. 20 (1), pp. e0313845. Date of Electronic Publication: 2025 Jan 09 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.

Authors: Loh M Schildkraut T Byrnes A et al.

Source: Internal medicine journal [Intern Med J] 2024 Dec; Vol. 54 (12), pp. 2015-2026. Date of Electronic Publication: 2024 Oct 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 101092952 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1445-5994 (Electronic) Linking ISSN: 14440903 NLM ISO Abbreviation: Intern Med J Subsets: MEDLINE

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.

Authors: Framme JL Lundqvist C Lundell AC et al.

Source: Journal of clinical immunology [J Clin Immunol] 2022 Apr; Vol. 42 (3), pp. 618-633. Date of Electronic Publication: 2022 Jan 26.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics.

Authors: Forsyth JK Mennigen E Lin A et al.

Corporate Authors: Forsyth JK Mennigen E Lin A et al.

Source: Cerebral cortex (New York, N.Y. : 1991) [Cereb Cortex] 2021 Jun 10; Vol. 31 (7), pp. 3285-3298.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 9110718 Publication Model: Print Cited Medium: Internet ISSN: 1460-2199 (Electronic) Linking ISSN: 10473211 NLM ISO Abbreviation: Cereb Cortex Subsets: MEDLINE

Disruption of the blood-brain barrier in 22q11.2 deletion syndrome.

Authors: Crockett AM Ryan SK Vásquez AH et al.

Source: Brain : a journal of neurology [Brain] 2021 Jun 22; Vol. 144 (5), pp. 1351-1360.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders.

Authors: Saito R Miyoshi C Koebis M et al.

Source: Molecular brain [Mol Brain] 2021 Apr 12; Vol. 14 (1), pp. 68. Date of Electronic Publication: 2021 Apr 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE

The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.

Authors: Dou Y Schindewolf E Crowley TB et al.

Source: Journal of clinical immunology [J Clin Immunol] 2020 Jul; Vol. 40 (5), pp. 783-785. Date of Electronic Publication: 2020 Jun 25.

Publication Type: Letter; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Views of adults with 22q11 deletion syndrome on reproductive choices.

Authors: McNeill A Lewis R Freeth M

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1284-1287. Date of Electronic Publication: 2020 Mar 10.

Publication Type: Letter; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.

Authors: Racine, Caroline Garde, Aurore Martz, Olivia et al.

Source: Molecular Genetics & Genomic Medicine. Apr2025, Vol. 13 Issue 4, p1-8. 8p.

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

Authors: Hui L Poulton A Kluckow E et al.

Source: Human reproduction (Oxford, England) [Hum Reprod] 2020 Mar 27; Vol. 35 (3), pp. 694-704.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions.

Authors: Nelson, Tanner J. McGinn, Daniel E. Crowley, T. Blaine et al.

Source: Clinical Genetics. May2026, Vol. 109 Issue 5, p859-868. 10p.

Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia.

Authors: Colijn, Mark Ainsley (AUTHOR)

Source: Journal of Intellectual Disability Research. Apr2026, Vol. 70 Issue 4, p440-445. 6p.

Subjects: Drug therapy for schizophrenia, Schizophrenia risk factors, Genetics of schizophrenia, Risk assessment, Cross-sectional method, Research funding, Antipsychotic agents, Descriptive statistics, Chromosome abnormalities, Treatment effectiveness, Intellectual disabilities, Genetic variation, 22q11 deletion syndrome, Medical records, Acquisition of data, Research methodology, Electronic health records, Seizures (Medicine), Genetic mutation, Disease susceptibility, Clozapine, Pituitary diseases

Seeing Eye to Eye With Threat: Atypical Threat Bias in Children With 22q11.2 Deletion Syndrome.

Authors: Popa AM Cruz JR Wong LM et al.

Source: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2019 Nov; Vol. 124 (6), pp. 549-567.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Association on Intellectual and Developmental Disabilities Country of Publication: United States NLM ID: 101492916 Publication Model: Print Cited Medium: Internet ISSN: 1944-7558 (Electronic) Linking ISSN: 19447558 NLM ISO Abbreviation: Am J Intellect Dev Disabil Subsets: MEDLINE

Adaptive living skills, sleep problems, and mental health disorders in adults with 22q11.21 deletion syndrome.

Authors: Leader G Curtin A Shprintzen RJ et al.

Source: Research in developmental disabilities [Res Dev Disabil] 2023 May; Vol. 136, pp. 104491. Date of Electronic Publication: 2023 Mar 23.

Publication Type: Journal Article

Journal Info: Publisher: Pergamon Press Country of Publication: United States NLM ID: 8709782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3379 (Electronic) Linking ISSN: 08914222 NLM ISO Abbreviation: Res Dev Disabil Subsets: MEDLINE

Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits, limitations, and challenges.

Authors: Grati FR Gross SJ

Source: Prenatal diagnosis [Prenat Diagn] 2019 Jan; Vol. 39 (2), pp. 70-80. Date of Electronic Publication: 2019 Jan 10.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn

Young Adult Outcomes for Children With 22q11 Deletion Syndrome and Comorbid ADHD.

Authors: Taylor LE Kates WR Fremont W et al.

Source: Journal of pediatric psychology [J Pediatr Psychol] 2018 Jul 01; Vol. 43 (6), pp. 636-644.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7801773 Publication Model: Print Cited Medium: Internet ISSN: 1465-735X (Electronic) Linking ISSN: 01468693 NLM ISO Abbreviation: J Pediatr Psychol Subsets: MEDLINE