These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

494 related items for PubMed ID: 27300488

  • 21. Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
    Rebolledo-Jaramillo B, Obregon MG, Huckstadt V, Gomez A, Repetto GM.
    Genes (Basel); 2021 Jan 13; 12(1):. PubMed ID: 33450921
    [Abstract] [Full Text] [Related]

  • 22. Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases.
    Larson RS, Butler MG.
    Diagn Mol Pathol; 1995 Dec 13; 4(4):274-8. PubMed ID: 8634784
    [Abstract] [Full Text] [Related]

  • 23. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
    Yakut T, Kilic SS, Cil E, Yapici E, Egeli U.
    Pediatr Surg Int; 2006 Apr 13; 22(4):380-3. PubMed ID: 16463032
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
    Hou JW, Wang JK, Tsai WY, Chou CC, Wang TR.
    J Formos Med Assoc; 1997 Jun 23; 96(6):419-23. PubMed ID: 9216164
    [Abstract] [Full Text] [Related]

  • 26. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.
    J Appl Genet; 2017 Feb 23; 58(1):93-98. PubMed ID: 27629806
    [Abstract] [Full Text] [Related]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30. All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
    Van L, Heung T, Graffi J, Ng E, Malecki S, Van Mil S, Boot E, Corral M, Chow EWC, Hodgkinson KA, Silversides C, Bassett AS.
    Genet Med; 2019 Oct 23; 21(10):2328-2335. PubMed ID: 30948858
    [Abstract] [Full Text] [Related]

  • 31. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
    Skrypnyk C, Goecke TO, Majewski F, Bartsch O.
    Am J Med Genet; 2002 Nov 22; 113(2):207-12. PubMed ID: 12407714
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. 22q11.2 Microduplication with thyroid hemiagenesis.
    Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH.
    Horm Res Paediatr; 2013 Nov 22; 79(4):243-9. PubMed ID: 23364243
    [Abstract] [Full Text] [Related]

  • 34. 22q11.2DS deletion syndrome: developmental milestones in infants and toddlers.
    Roizen NJ, Antshel KM, Fremont W, AbdulSabur N, Higgins AM, Shprintzen RJ, Kates WR.
    J Dev Behav Pediatr; 2007 Apr 22; 28(2):119-24. PubMed ID: 17435462
    [Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36. 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs.
    Volpe P, Marasini M, Caruso G, Marzullo A, Buonadonna AL, Arciprete P, Di Paolo S, Volpe G, Gentile M.
    Prenat Diagn; 2003 Sep 22; 23(9):752-7. PubMed ID: 12975788
    [Abstract] [Full Text] [Related]

  • 37. The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
    Wonkam A, Toko R, Chelo D, Tekendo-Ngongang C, Kingue S, Dahoun S.
    Glob Heart; 2017 Jun 22; 12(2):115-120. PubMed ID: 28302550
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].
    Sun JQ, Wang LS, Qi CH, Ying WJ, Guo XH, Liu DR, Hui XY, Liu F, Cao Y, Luo FH, Wang XC.
    Zhonghua Er Ke Za Zhi; 2012 Dec 22; 50(12):944-7. PubMed ID: 23324155
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 25.