نتائج البحث

Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.

• Authors : Zafarullah, Marwa; Angkustsiri, Kathleen; Quach, Austin

Subjects: 22q11.2 deletion syndrome; APS; AS

• Source: Metabolomics. 20(2)

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The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.

• Authors : Armentano, Marta¹ (AUTHOR) ; Alisi, Ludovico¹ (AUTHOR); Giovannetti, Francesca¹ (AUTHOR)

• Source: Life (2075-1729). Aug2024, Vol. 14 Issue 8, p1006. 12p.

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Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.

• Authors : Silva, Isabela Mayá Wayhs¹ (AUTHOR); Gil-da-Silva-Lopes, Vera Lúcia¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/6/2024, Vol. 19 Issue 1, p1-12. 12p.

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Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil

• Authors : Isabela Mayá Wayhs Silva; Vera Lúcia Gil-da-Silva-Lopes

Subjects: Health service accessibility; Quality of life; Rare genetic disease

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

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Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders

• Authors : David R. Roalf; Donna M. McDonald-McGinn; Joelle Jee

Subjects: Psychosis; Minor physical anomalies; 22q11.2 deletion syndrome

• Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

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Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p

• Authors : Anelisa Gollo Dantas; Beatriz Carvalho Nunes; Natália Nunes

Subjects: 22q11.2 deletion syndrome; miRNA; Next-generation sequencing

• Source: Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)

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Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

• Authors : National Heart, Lung, and Blood Institute (NHLBI); Bernice Morrow, Professor of Genetics

• Source: Genetic Modifiers of 22q11.2 Deletion Syndrome

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Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

• Authors : Donna Cutler-Landsman

Subjects: Genetic disorders; Velocardiofacial syndrome; Face--AbnormalitiesMEDICAL / Audiology & Speech Pathology

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Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders

• Authors : Clémence Feller; Laura Ilen; Stephan Eliez

Subjects: Social skills; Role-plays; Direct observation

• Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)

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Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome

• Authors : Sanders, Ashley F. P.; Hobbs, Diana A.; Knaus, Tracey A.

Subjects: Genetic Disorders; Emotional Response; Children

• Source: Journal of Autism and Developmental Disorders. Oct 2023 53(10):4021-4034.14

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