



- Công bố khoa học và công nghệ Việt Nam
76
Nhi khoa
Đặng Thị Ngọc Lan, Ngô Diễm Ngọc, Lê Hồng Quang(2), Lê Trọng Tú(1), Đặng Thị Hải Vân
Đặc điểm lâm sàng, cận lâm sàng hội chứng DiGeorge ở trẻ em
Clinical characteristics and investigations of children with DiGeorge syndrome
Tạp chí Nghiên cứu y học (Đại học Y Hà Nội)
2022
12V1
170-179
2354-080X
TTKHCNQG, CVv 251
- [1] Naqvi N, Davidson SJ, Wong D, et al (2011), Predicting 22q11.2 deletion syndrome: a novel method using the routine full blood count,Int J Cardiol
- [2] Kato T, Kosaka K, Kimura M, et al (2003), Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta,Genet Med
- [3] Lawrence S, McDonald-McGinn DM, Zackai E (2003), Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome,J Pediatr
- [4] (2022), Bộ Y tế công bố kết quả Tổng điều tra Dinh dưỡng năm 2019-2020,https://moh.gov.vn/tin-noi-bat/-/asset_publisher/3Yst7YhbkA5j/content/bo-y-te-cong-bo-ket-qua-tong-ieu-tra-dinh-duong-nam-2019-2020
- [5] Ryan AK, Goodship JA, Wilson DI, et al (1997), Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study,J Med Genet
- [6] Bohm LA, Zhou TC, Mingo TJ, et al (2017), Neuroradiographic findings in 22q11.2 deletion syndrome,American Journal of Medical Genetics Part A
- [7] Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M (1996), Renal and urological tract malformations caused by a 22q11 deletion,J Med Genet
- [8] Nissan E, Katz U, Levy-Shraga Y, et al (2021), Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome,J Pediatr
- [9] Repetto GM, Guzmán ML, Delgado I, et al (2014), Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: A retrospective cohort study,BMJ Open
- [10] Park IS, Ko JK, Kim YH, et al (2007), Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: A Korean multicenter study,International Journal of Cardiology
- [11] Lê Thanh Hải (2018), Hướng Dẫn Chẩn Đoán và Điều Trị Bệnh Trẻ Em (Cập Nhật 2018),https://benhviennhitrunguong.gov.vn/huong-dan-chan-doan-va-dieu-tri-benh-tre-em-2.html
- [12] Lê Thị Liễu, Đinh Thị Hồng Nhung, Ngô Diễm Ngọc (2016), Kỹ thuật lai huỳnh quang tại chỗ (FISH) trong chẩn đoán hội chứng DiGeorge,Tạp chí Nhi khoa
- [13] Digilio M, Marino B, Capolino R, Dallapiccola B (2005), Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome),Images Paediatr Cardiol
- [14] Campbell IM, Sheppard SE, Crowley TB, et al (2018), What's New with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia,Am J Med Genet A
- [15] McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH (2020), 22q11.2 Deletion Syndrome Summary Genetic Counseling GeneReview Scope Diagnosis Suggestive Findings,https://www.ncbi.nlm.nih.gov/books/NBK1523/
- [16] Oskarsdottir S, Vujic M, Fasth A (2004), Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden,Arch Dis Child