194 related articles for article (PubMed ID: 34404688)
1. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
Blagojevic C; Heung T; Theriault M; Tomita-Mitchell A; Chakraborty P; Kernohan K; Bulman DE; Bassett AS
CMAJ Open; 2021; 9(3):E802-E809. PubMed ID: 34404688
[TBL] [Abstract][Full Text] [Related]
2. Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
Liao HC; Liao CH; Kao SM; Chiang CC; Chen YJ
J Pediatr; 2019 Jan; 204():219-224.e1. PubMed ID: 30268402
[TBL] [Abstract][Full Text] [Related]
3. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda A; Cueto-González AM; Argudo-Ramírez A; Marin-Soria JL; Martinez-Gallo M; Colobran R; Plaja A; Castells N; Riviere J; Tizzano EF; Soler-Palacin P
Mol Genet Genomic Med; 2019 Dec; 7(12):e1016. PubMed ID: 31663686
[TBL] [Abstract][Full Text] [Related]
4. High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.
Al-Mousa H; Al-Dakheel G; Jabr A; Elbadaoui F; Abouelhoda M; Baig M; Monies D; Meyer B; Hawwari A; Dasouki M
Front Immunol; 2018; 9():782. PubMed ID: 29713328
[TBL] [Abstract][Full Text] [Related]
5. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry JC; Crowley TB; Jyonouchi S; Heimall J; Zackai EH; Sullivan KE; McDonald-McGinn DM
J Clin Immunol; 2017 Jul; 37(5):476-485. PubMed ID: 28540525
[TBL] [Abstract][Full Text] [Related]
6. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar P; Jacobsson B; Clifton R; Egbert M; Malone F; Wapner RJ; Roman AS; Khalil A; Faro R; Madankumar R; Edwards L; Strong N; Haeri S; Silver R; Vohra N; Hyett J; Demko Z; Martin K; Rabinowitz M; Flood K; Carlsson Y; Doulaveris G; Daly S; Hallingström M; MacPherson C; Kao C; Hakonarson H; Norton ME
Am J Obstet Gynecol; 2022 Jul; 227(1):79.e1-79.e11. PubMed ID: 35033576
[TBL] [Abstract][Full Text] [Related]
7. Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
Barbaro M; Ohlsson A; Borte S; Jonsson S; Zetterström RH; King J; Winiarski J; von Döbeln U; Hammarström L
J Clin Immunol; 2017 Jan; 37(1):51-60. PubMed ID: 27873105
[TBL] [Abstract][Full Text] [Related]
8. Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.
Richards S; Pitt J; Choo S
J Paediatr Child Health; 2018 Jan; 54(1):14-19. PubMed ID: 28861919
[TBL] [Abstract][Full Text] [Related]
9. A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.
Hui L; Poulton A; Kluckow E; Lindquist A; Hutchinson B; Pertile MD; Bonacquisto L; Gugasyan L; Kulkarni A; Harraway J; Howden A; McCoy R; Costa FDS; Menezes M; Palma-Dias R; Nisbet D; Martin N; Bethune M; Poulakis Z; Halliday J
Hum Reprod; 2020 Mar; 35(3):694-704. PubMed ID: 32207823
[TBL] [Abstract][Full Text] [Related]
10. The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.
Froňková E; Klocperk A; Svatoň M; Nováková M; Kotrová M; Kayserová J; Kalina T; Keslová P; Votava F; Vinohradská H; Freiberger T; Mejstříková E; Trka J; Sedivá A
PLoS One; 2014; 9(12):e114514. PubMed ID: 25485546
[TBL] [Abstract][Full Text] [Related]
11. Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.
Lingman Framme J; Borte S; von Döbeln U; Hammarström L; Oskarsdóttir S
J Clin Immunol; 2014 May; 34(4):514-9. PubMed ID: 24610337
[TBL] [Abstract][Full Text] [Related]
12. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Freud LR; Galloway S; Crowley TB; Moldenhauer J; Swillen A; Breckpot J; Borrell A; Vora NL; Cuneo B; Hoffman H; Gilbert L; Nowakowska B; Geremek M; Kutkowska-Kaźmierczak A; Vermeesch JR; Devriendt K; Busa T; Sigaudy S; Vigneswaran T; Simpson JM; Dungan J; Gotteiner N; Gloning KP; Digilio MC; Unolt M; Putotto C; Marino B; Repetto G; Fadic M; Garcia-Minaur S; Achón Buil A; Thomas MA; Fruitman D; Beecroft T; Hui PW; Oskarsdottir S; Bradshaw R; Criebaum A; Norton ME; Lee T; Geiger M; Dunnington L; Isaac J; Wilkins-Haug L; Hunter L; Izzi C; Toscano M; Ghi T; McGlynn J; Romana Grati F; Emanuel BS; Gaiser K; Gaynor JW; Goldmuntz E; McGinn DE; Schindewolf E; Tran O; Zackai EH; Yan Q; Bassett AS; Wapner R; McDonald-McGinn DM
Am J Obstet Gynecol; 2024 Mar; 230(3):368.e1-368.e12. PubMed ID: 37717890
[TBL] [Abstract][Full Text] [Related]
13. A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.
Vidal-Folch N; Milosevic D; Majumdar R; Gavrilov D; Matern D; Raymond K; Rinaldo P; Tortorelli S; Abraham RS; Oglesbee D
J Mol Diagn; 2017 Sep; 19(5):755-765. PubMed ID: 28826609
[TBL] [Abstract][Full Text] [Related]
14. Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method.
Maran S; Faten SA; Lim SE; Lai KS; Ibrahim WPW; Ankathil R; Gan SH; Tan HL
Biomed Res Int; 2020; 2020():6945730. PubMed ID: 33062692
[TBL] [Abstract][Full Text] [Related]
15. Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: A Systematic Review of Population-Based Studies.
Panamonta V; Wichajarn K; Chaikitpinyo A; Panamonta M; Pradubwong S; Chowchuen B
J Med Assoc Thai; 2016 Aug; 99 Suppl 5():S187-93. PubMed ID: 29906080
[TBL] [Abstract][Full Text] [Related]
16. Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.
Huber J; Peres VC; de Castro AL; dos Santos TJ; da Fontoura Beltrão L; de Baumont AC; Cossio SL; Dalberto TP; Riegel M; Cañedo AD; Schaan BD; Pellanda LC
Pediatr Cardiol; 2014 Dec; 35(8):1356-62. PubMed ID: 24880467
[TBL] [Abstract][Full Text] [Related]
17. Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features.
Gul KA; Øverland T; Osnes L; Baumbusch LO; Pettersen RD; Lima K; Abrahamsen TG
J Clin Immunol; 2015 May; 35(4):408-15. PubMed ID: 25814142
[TBL] [Abstract][Full Text] [Related]
18. Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
Gross SJ; Stosic M; McDonald-McGinn DM; Bassett AS; Norvez A; Dhamankar R; Kobara K; Kirkizlar E; Zimmermann B; Wayham N; Babiarz JE; Ryan A; Jinnett KN; Demko Z; Benn P
Ultrasound Obstet Gynecol; 2016 Feb; 47(2):177-83. PubMed ID: 26396068
[TBL] [Abstract][Full Text] [Related]
19. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
Amatuni GS; Currier RJ; Church JA; Bishop T; Grimbacher E; Nguyen AA; Agarwal-Hashmi R; Aznar CP; Butte MJ; Cowan MJ; Dorsey MJ; Dvorak CC; Kapoor N; Kohn DB; Markert ML; Moore TB; Naides SJ; Sciortino S; Feuchtbaum L; Koupaei RA; Puck JM
Pediatrics; 2019 Feb; 143(2):. PubMed ID: 30683812
[TBL] [Abstract][Full Text] [Related]
20. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Schindewolf E; Khalek N; Johnson MP; Gebb J; Coleman B; Crowley TB; Zackai EH; McDonald-McGinn DM; Moldenhauer JS
Am J Med Genet A; 2018 Aug; 176(8):1735-1741. PubMed ID: 30055034
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
