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Subject : medicine

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Academic Journal

Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS

Authors : Emilie Favre; Margot Piveteau; Marie-Noelle Babinet

Subjects: 22q11.2 deletion syndrome; Arithmetical skills; Magnitude comparison task

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

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Academic Journal

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

Authors : Yingjie Zhao; Yujue Wang; Lijie Shi

Subjects: Medicine; Genetics; QH426-470

Source: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)

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Academic Journal

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

Authors : Maitha Almakhari; Yan Chen; Amanda Shen-Yee Kong

Subjects: Medicine; Science

Source: PLoS ONE, Vol 19, Iss 6, p e0298092 (2024)

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Academic Journal

Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome

Authors : Dariusz Walkowiak; Jan Domaradzki

Subjects: Rare Diseases; 22q11.2DS; Caregivers

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

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Academic Journal

Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

Authors : Sathiya Maran; Siti Aisyah Faten; Swee-Hua Erin Lim

Subjects: Medicine

Source: BioMed Research International, Vol 2020 (2020)

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Vestibular Function Correlates with Radiologic Findings in a Gymnast with 22q11.2DS

Authors : Arthur I. Mallinson; Lindy M.R. Moxham

Subjects: medicine.medical_specialty; Adolescent; Gymnastics

Source: The American Journal of Case Reports

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The motor profile of primary school-age children with a 22q11.2 deletion syndrome (22q11.2DS) and an age- and IQ-matched control group

Authors : Karen Caeyenberghs; Katrijn Van Aken; Ann Swillen

Subjects: Male; medicine.medical_specialty; Visual perception

Source: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 15(6)

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Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome

Authors : Ann Swillen; Yaffa Serur; Abraham Weizman

Subjects: Adult; Psychosis; Population

Source: The World Journal of Biological Psychiatry. 23:475-482

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Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

Authors : Marija Mijovic; Ida Jovanovic; Ljiljana Jelicic-Dobrijevic

Subjects: 0301 basic medicine; Genetics; Down syndrome

Source: Genetika, Vol 48, Iss 1, Pp 57-72 (2016)

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Academic Journal

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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فلترة النتائج

Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome

Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

Vestibular Function Correlates with Radiologic Findings in a Gymnast with 22q11.2DS

The motor profile of primary school-age children with a 22q11.2 deletion syndrome (22q11.2DS) and an age- and IQ-matched control group

Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome

Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

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

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