BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

565 related articles for article (PubMed ID: 30055034)

  • 1. 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]  

  • 2. 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]  

  • 3. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
    Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY
    Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
    Blagowidow N; Nowakowska B; Schindewolf E; Grati FR; Putotto C; Breckpot J; Swillen A; Crowley TB; Loo JCY; Lairson LA; Óskarsdóttir S; Boot E; Garcia-Minaur S; Cristina Digilio M; Marino B; Coleman B; Moldenhauer JS; Bassett AS; McDonald-McGinn DM
    Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672900
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
    Ron HA; Crowley TB; Liu Y; Unolt M; Schindewolf E; Moldenhauer J; Rychik J; Goldmuntz E; Emanuel BS; Ryba D; Gaynor JW; Zackai EH; Hakonarson H; McDonald-McGinn DM
    Genes (Basel); 2022 Dec; 14(1):. PubMed ID: 36672801
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios].
    Lamouroux A; Mousty E; Prodhomme O; Bigi N; Le Gac MP; Letouzey V; De Tayrac R; Mares P
    J Gynecol Obstet Biol Reprod (Paris); 2016 Apr; 45(4):388-96. PubMed ID: 26096354
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
    Driscoll DA; Salvin J; Sellinger B; Budarf ML; McDonald-McGinn DM; Zackai EH; Emanuel BS
    J Med Genet; 1993 Oct; 30(10):813-7. PubMed ID: 8230155
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses.
    Song MS; Hu A; Dyamenahalli U; Chitayat D; Winsor EJ; Ryan G; Smallhorn J; Barrett J; Yoo SJ; Hornberger LK
    Ultrasound Obstet Gynecol; 2009 May; 33(5):552-9. PubMed ID: 19350566
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre.
    Jing XY; Zhang YL; Zhen L; Li YL; Li DZ
    J Obstet Gynaecol; 2022 Oct; 42(7):2935-2940. PubMed ID: 35998262
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.
    Sarac Sivrikoz T; Basaran S; Has R; Karaman B; Kalelioglu IH; Kirgiz M; Altunoglu U; Yuksel A
    Arch Gynecol Obstet; 2022 Feb; 305(2):323-342. PubMed ID: 34145474
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
    Unolt M; DiCairano L; Schlechtweg K; Barry J; Howell L; Kasperski S; Nance M; Adzick NS; Zackai EH; McDonald-McGinn DM
    Am J Med Genet A; 2017 Jan; 173(1):135-142. PubMed ID: 27682988
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fetal phenotype associated with the 22q11 deletion.
    Noël AC; Pelluard F; Delezoide AL; Devisme L; Loeuillet L; Leroy B; Martin A; Bouvier R; Laquerriere A; Jeanne-Pasquier C; Bessieres-Grattagliano B; Mechler C; Alanio E; Leroy C; Gaillard D
    Am J Med Genet A; 2014 Nov; 164A(11):2724-31. PubMed ID: 25111715
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.
    Chan C; Costain G; Ogura L; Silversides CK; Chow EW; Bassett AS
    J Genet Couns; 2015 Oct; 24(5):810-21. PubMed ID: 25579115
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis].
    Ingrao T; Lambert L; Valduga M; Bosser G; Albuisson E; Leheup B
    Arch Pediatr; 2017 Nov; 24(11):1067-1075. PubMed ID: 28967605
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Wu FT; Wang W
    Taiwan J Obstet Gynecol; 2021 Jan; 60(1):165-168. PubMed ID: 33494995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.
    Vlădăreanu R; Maier C; Tocariu R; Șerban M; Brătilă E
    Medicina (Kaunas); 2023 Oct; 59(10):. PubMed ID: 37893556
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.
    Perolo A; De Robertis V; Cataneo I; Volpe N; Campobasso G; Frusca T; Ghi T; Prandstraller D; Pilu G; Volpe P
    Ultrasound Obstet Gynecol; 2016 Aug; 48(2):200-3. PubMed ID: 26411878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Prenatal diagnosis of 22q11 microdeletion syndrome].
    Cai M; Huang H; Lin N; Guo N; Wu X; Su L; Xu L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):192-195. PubMed ID: 28397216
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The significance of a prenatal diagnosis of right aortic arch.
    Wójtowicz A; Respondek-Liberska M; Słodki M; Kordjalik P; Płużańska J; Knafel A; Huras H
    Prenat Diagn; 2017 Apr; 37(4):365-374. PubMed ID: 28177551
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.