Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature-Reference-Cited by-同舟云学术

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

Published:2013-02-26 Issue:7 Volume:172 Page:927-945
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Monteiro Fabíola P.,Vieira Társis P.,Sgardioli Ilária C.,Molck Miriam C.,Damiano Ana Paula,Souza Josiane,Monlleó Isabella L.,Fontes Marshall I. B.,Fett-Conte Agnes C.,Félix Têmis M.,Leal Gabriela F.,M.Ribeiro Erlane,Banzato Claudio E. M.,Dantas Clarissa de R.,Lopes-Cendes Iscia,Gil-da-Silva-Lopes Vera Lúcia

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-013-1964-0.pdf

Reference81 articles.

1. Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S (1998) Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr 157(1):34–38

2. Agergaard P, Hebert A, Sørensen KM, Ostergaard JR, Olesen C (2011) Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. Eur J Med Genet 54(1):3–8

3. Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B (1999) Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet 7(8):903–909

4. Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B (1995) 22q11 deletions in isolated and syndromic patients with Tetralogy of Fallot. Hum Genet 95(5):479–482

5. Arinami T, Ohtsuki T, Takase K, Shimizu H, Yoshikawa T, Horigome H, Nakayama J, Toru M (2001) Screening for 22q11 deletions in a schizophrenia population. Schizophr Res 52(3):167–170

Cited by 55 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil;Orphanet Journal of Rare Diseases;2024-07-06

2. Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables;Genes;2024-05-08

3. Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis;Genes;2024-04-19

4. Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome;Genes;2024-02-06

5. Craniofacial Conditions;Avery's Diseases of the Newborn;2024