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Journal Abstract Search

241 related items for PubMed ID: 9295077

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  • 2. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
    Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.
    Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461
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  • 4. 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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  • 6. [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 10; 50(12):944-7. PubMed ID: 23324155
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  • 8. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
    Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G.
    Rev Med Chil; 2001 May 10; 129(5):515-21. PubMed ID: 11464533
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  • 11. [Epilepsy in an adult with chromosome 22q11 micro-deletion].
    Alla P, Philip N, Azulay JP, Attarian S, Pouget J.
    Rev Neurol (Paris); 1999 Nov 10; 155(11):967-70. PubMed ID: 10603642
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  • 12. [Neonatal hypocalcaemic dilated myocardiopathy due to a 22q11 microdeletion].
    Goulet M, Rio M, Jacquette A, Ladouceur M, Bonnet D.
    Arch Mal Coeur Vaiss; 2006 May 10; 99(5):520-2. PubMed ID: 16802747
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  • 13. [Asymptomatic extreme hypocalcemia in a 29-year old woman with CATCH 22].
    Lindstedt G, Kutti J, Swolin B, Nyström E.
    Lakartidningen; 1999 Dec 22; 96(51-52):5741-2. PubMed ID: 10643256
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  • 17. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2009 Dec 22; 52(5):321-7. PubMed ID: 19467348
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  • 19. DiGeorge syndrome: clinical variability in a family with submicroscopic deletion at 22q11.2.
    Tsui KM, Ng YY, Lam TS.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997 Dec 22; 38(1):52-6. PubMed ID: 9066191
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