نتائج البحث

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.

• Authors : Zheng S; Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Huang H

Subjects: Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics; Humans ; Infant, Newborn

• Source: BMC medical genomics [BMC Med Genomics] 2022 Aug 24; Vol. 15 (1), pp. 184. Date of Electronic Publication: 2022 Aug 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

• Authors : Simin Zheng; Huanyang Huang; Li Ma

Subjects: RASopathies; Neonatal; Congenital heart defect

• Source: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)

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Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

• Authors : Ren R; Department of Neurorehabilitation, Affiliated Women's and Children's Hospital of Qingdao University, No. 6 Tongfu Road, Qingdao, 266000, Shandong, China.; Liu Y

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/genetics ; Chromosome Deletion* Kleefstra Syndrome

• Source: BMC medical genomics [BMC Med Genomics] 2024 Dec 18; Vol. 17 (1), pp. 290. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot study.

• Authors : Chang S; Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.; Wang Y

Subjects: DNA Methylation* ; Genomic Imprinting* ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics

• Source: BMC medical genomics [BMC Med Genomics] 2021 Jan 06; Vol. 14 (1), pp. 4. Date of Electronic Publication: 2021 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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High throughput exome coverage of clinically relevant cardiac genes.

• Authors : Manase D; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. .; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. .

Subjects: Genome, Human*; Biomarkers/Biomarkers/Biomarkers/*metabolism ; Exome/Exome/Exome/*genetics

• Source: BMC medical genomics [BMC Med Genomics] 2014 Dec 11; Vol. 7, pp. 67. Date of Electronic Publication: 2014 Dec 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

• Authors : Liberalesso, Paulo Breno Noronha; Cordeiro, Mara L; Karuta, Simone Carreiro Vieira

Subjects: Biological Sciences; Biomedical and Clinical Sciences; Clinical Sciences

• Source: BMC Medical Genomics. 18(1)

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Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle.

• Authors : Zhang X; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Subjects: DNA Copy Number Variations*; Heart Defects, Congenital/Heart Defects, Congenital/Heart Defects, Congenital/*genetics ; Heart Septal Defects/Heart Septal Defects/Heart Septal Defects/*geneticsAtrioventricular Septal Defect

• Source: BMC medical genomics [BMC Med Genomics] 2021 Oct 09; Vol. 14 (1), pp. 243. Date of Electronic Publication: 2021 Oct 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

• Authors : An Y; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, 131 Dongan Road, Shanghai, 200032, China. .; The State Key Laboratory of Genetic Engineering, Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, and Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200433, China. .

Subjects: Genome, Human*; Asian People/Asian People/Asian People/*genetics ; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*genetics

• Source: BMC medical genomics [BMC Med Genomics] 2016 Jan 08; Vol. 9, pp. 2. Date of Electronic Publication: 2016 Jan 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

• Authors : Qi Z; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, 94107, USA. .; Jeng LJ

Subjects: Haploinsufficiency*; Chromosomes, Human, Pair 6/Chromosomes, Human, Pair 6/Chromosomes, Human, Pair 6/*genetics; Adult Chromosome 6pter-P24 Deletion Syndrome

• Source: BMC medical genomics [BMC Med Genomics] 2015 Jul 15; Vol. 8, pp. 38. Date of Electronic Publication: 2015 Jul 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review.

• Authors : Martínez-Hernández, A.¹ (AUTHOR); Martínez-Anaya, D.² (AUTHOR); Durán-McKinster, C.³ (AUTHOR)

• Source: BMC Medical Genomics. 10/31/2022, Vol. 15 Issue 1, p1-11. 11p.

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