1
|
Emanuel BS, McDonald-McGinn D, Saitta SC
and Zackai EH: The 22q11.2 deletion syndrome. Adv Pediatr.
48:39–73. 2001.PubMed/NCBI
|
2
|
Goodship J, Cross I, LiLing J and Wren C:
A population study of chromosome 22q11 deletions in infancy. Arch
Dis Child. 79:348–351. 1998. View Article : Google Scholar
|
3
|
Devriendt K, Fryns JP, Mortier G, van
Thienen MN and Keymolen K: The annual incidence of
DiGeorge/velocardiofacial syndrome. J Med Genet. 35:789–790. 1998.
View Article : Google Scholar : PubMed/NCBI
|
4
|
Oskarsdóttir S, Vujic M and Fasth A:
Incidence and prevalence of the 22q11 deletion syndrome: a
population-based study in Western Sweden. Arch Dis Child.
89:148–151. 2004. View Article : Google Scholar : PubMed/NCBI
|
5
|
McDonald-McGinn DM, Tonnesen MK,
Laufer-Cahana A, et al: Phenotype of the 22q11.2 deletion in
individuals identified through an affected relative: cast a wide
FISHing net! Genet Med. 3:23–29. 2001. View Article : Google Scholar : PubMed/NCBI
|
6
|
Bassett AS, Chow EW, Husted J, et al:
Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J
Med Genet A. 138:307–313. 2005. View Article : Google Scholar : PubMed/NCBI
|
7
|
Agergaard P, Hebert A, Sørensen KM,
Østergaard JR and Olesen C: Can clinical assessment detect 22q11.2
deletions in patients with cardiac malformations? A review. Eur J
Med Genet. 54:3–8. 2011. View Article : Google Scholar
|
8
|
Oh AK, Workman LA and Wong GB: Clinical
correlation of chromosome 22q11.2 fluorescent in situ hybridization
analysis and velocardiofacial syndrome. Cleft Palate Craniofac J.
44:62–66. 2007. View
Article : Google Scholar : PubMed/NCBI
|
9
|
Mikhail FM, Burnside RD, Rush B, et al:
The recurrent distal 22q11.2 microdeletions are often de novo and
do not represent a single clinical entity: a proposed
categorization system. Genet Med. 16:92–100. 2014. View Article : Google Scholar
|
10
|
Monteiro FP, Vieira TP, Sgardioli IC, et
al: Defining new guidelines for screening the 22q11.2 deletion
based on a clinical and dysmorphologic evaluation of 194
individuals and review of the literature. Eur J Pediatr.
172:927–945. 2013. View Article : Google Scholar : PubMed/NCBI
|
11
|
Shaikh TH, O’Connor RJ, Pierpont ME, et
al: Low copy repeats mediate distal chromosome 22q11.2 deletions:
sequence analysis predicts breakpoint mechanisms. Genome Res.
17:482–491. 2007. View Article : Google Scholar : PubMed/NCBI
|
12
|
Vitelli F, Taddei I, Morishima M, Meyers
EN, Lindsay EA and Baldini A: A genetic link between Tbx1 and
fibroblast growth factor signaling. Development. 129:4605–4611.
2002.PubMed/NCBI
|
13
|
Vitelli F, Morishima M, Taddei I, Lindsay
EA and Baldini A: Tbx1 mutation causes multiple cardiovascular
defects and disrupts neural crest and cranial nerve migratory
pathways. Hum Mol Genet. 11:915–922. 2002. View Article : Google Scholar : PubMed/NCBI
|
14
|
Chen M, Yang YS, Shih JC, et al:
Microdeletions/duplications involving TBX1 gene in fetuses with
conotruncal heart defects which are negative for 22q11.2 deletion
on fluorescence in-situ hybridization. Ultrasound Obstet Gynecol.
43:396–403. 2014. View Article : Google Scholar
|
15
|
Scambler PJ: 22q11 deletion syndrome: a
role for TBX1 in pharyngeal and cardiovascular development. Pediatr
Cardiol. 31:378–390. 2010. View Article : Google Scholar : PubMed/NCBI
|
16
|
Mayumi M, Kimata H, Suehiro Y, et al:
DiGeorge syndrome with hypogammaglobulinaemia: a patient with
excess suppressor T cell activity treated with fetal thymus
transplantation. Eur J Pediatr. 148:518–522. 1989. View Article : Google Scholar : PubMed/NCBI
|
17
|
Pierdominici M, Marziali M, Giovannetti A,
et al: T cell receptor repertoire and function in patients with
DiGeorge syndrome and velocardiofacial syndrome. Clin Exp Immunol.
121:127–132. 2000. View Article : Google Scholar : PubMed/NCBI
|
18
|
Shea YF, Lee CH, Gill H, et al: Delayed
diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
Chin Med J (Engl). 125:2945–2947. 2012.
|
19
|
Nakada Y, Terui K, Kageyama K, et al: An
adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old
woman with hypocalcemia caused by hypoparathyroidism and
Hashimoto’s thyroiditis. Intern Med. 52:1365–1368. 2013. View Article : Google Scholar
|
20
|
Halder A, Jain M, Chaudhary I and Varma B:
Chromosome 22q11.2 microdeletion in monozygotic twins with
discordant phenotype and deletion size. Mol Cytogenet. 5:132012.
View Article : Google Scholar : PubMed/NCBI
|
21
|
Stalmans I, Lambrechts D, De Smet F, et
al: VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med.
9:173–182. 2003. View
Article : Google Scholar : PubMed/NCBI
|
22
|
Driscoll DA, Boland T, Emanuel BS, et al:
Evaluation of potential modifiers of the palatal phenotype in the
22q11.2 deletion syndrome. Cleft Palate Craniofac J. 43:435–441.
2006. View
Article : Google Scholar : PubMed/NCBI
|
23
|
Taddei I, Morishima M, Huynh T and Lindsay
EA: Genetic factors are major determinants of phenotypic
variability in a mouse model of the DiGeorge/del22q11 syndromes.
Proc Natl Acad Sci USA. 98:11428–11431. 2001. View Article : Google Scholar : PubMed/NCBI
|
24
|
Marshak H, Morrow AA and Morrow DM:
Biplanar temple lift for lateral brow ptosis: comparison with
uniplanar dissection technique. Aesthetic Plast Surg. 32:517–522.
2008. View Article : Google Scholar : PubMed/NCBI
|
25
|
Girirajan S, Rosenfeld JA, Cooper GM, et
al: A recurrent 16p12.1 microdeletion supports a two-hit model for
severe developmental delay. Nat Genet. 42:203–209. 2010. View Article : Google Scholar : PubMed/NCBI
|
26
|
Rauch A, Zink S, Zweier C, et al:
Systematic assessment of atypical deletions reveals
genotype-phenotype correlation in 22q11.2. J Med Genet. 42:871–876.
2005. View Article : Google Scholar : PubMed/NCBI
|
27
|
Vermeesch JR, Brady PD, Sanlaville D, Kok
K and Hastings RJ: Genome-wide arrays: quality criteria and
platforms to be used in routine diagnostics. Hum Mutat. 33:906–915.
2012. View Article : Google Scholar : PubMed/NCBI
|
28
|
Fix A, Lucchesi C, Ribeiro A, et al:
Characterization of amplicons in neuroblastoma: high-resolution
mapping using DNA microarrays, relationship with outcome, and
identification of overexpressed genes. Genes Chromosomes Cancer.
47:819–834. 2008. View Article : Google Scholar : PubMed/NCBI
|