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Journal Abstract Search

348 related items for PubMed ID: 25297596

  • 1.
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  • 2. 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
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  • 3. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
    Kozlova IuO, Zabnenkova VV, Shilova NV, Min'zhenkova ME, Antonenko VG, Kotlukova NP, Simonova LV, Kazanceva IA, Levchenko EG, Bombardirova TD, Zolotukhina TV, Poliakov AV.
    Genetika; 2014 May; 50(5):602-10. PubMed ID: 25715476
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  • 4. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
    Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A.
    Clin Genet; 2005 Oct; 68(4):373-8. PubMed ID: 16143025
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  • 5. [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].
    Lin S, Zheng X, Gu H, Li M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun 10; 34(3):393-397. PubMed ID: 28604963
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  • 6. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
    Evangelidou P, Kousoulidou L, Salameh N, Alexandrou A, Papaevripidou I, Alexandrou IM, Ketoni A, Ioannidou C, Christophidou-Anastasiadou V, Tanteles GA, Sismani C.
    Eur J Med Genet; 2020 Dec 10; 63(12):104084. PubMed ID: 33045407
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  • 7. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
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  • 8. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
    Kitsiou-Tzeli S, Kolialexi A, Fryssira H, Galla-Voumvouraki A, Salavoura K, Kanariou M, Tsangaris GT, Kanavakis E, Mavrou A.
    In Vivo; 2004 Apr 10; 18(5):603-8. PubMed ID: 15523900
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  • 9. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
    Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.
    BMC Med Genet; 2009 Jun 02; 10():48. PubMed ID: 19490635
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  • 10. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
    Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA.
    Am J Med Genet A; 2004 Jan 30; 124A(3):313-7. PubMed ID: 14708107
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  • 11. Deletion of 22q11 in two brothers with different phenotype.
    Kasprzak L, Der Kaloustian VM, Elliott AM, Shevell M, Lejtenyi C, Eydoux P.
    Am J Med Genet; 1998 Jan 23; 75(3):288-91. PubMed ID: 9475599
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  • 13. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
    Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L.
    Gene; 2015 Sep 10; 569(1):46-50. PubMed ID: 26099517
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  • 14.
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  • 15. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
    Ravnan JB, Chen E, Golabi M, Lebo RV.
    Am J Med Genet; 1996 Dec 18; 66(3):250-6. PubMed ID: 8985481
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  • 18. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
    Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.
    Am J Med Genet; 1994 Oct 01; 52(4):445-9. PubMed ID: 7747757
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  • 19. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
    Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA.
    Am J Med Genet; 1998 Jul 24; 78(4):322-31. PubMed ID: 9714433
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  • 20. Differential detection of deletion 22q11.2 syndrome by specialty and indication.
    Katzman PJ, Wang B, Sawhney M, Wang N.
    Pediatr Dev Pathol; 2005 Jul 24; 8(5):557-67. PubMed ID: 16222476
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