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Journal Abstract Search

194 related items for PubMed ID: 27455007

  • 21. [Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array].
    Li S, Shen H, Jin Y, Liu X, Song Q, Miao Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):682-5. PubMed ID: 27577223
    [Abstract] [Full Text] [Related]

  • 22. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.
    Hannes F, Drozniewska M, Vermeesch JR, Haus O.
    Eur J Med Genet; 2010 Oct; 53(3):136-40. PubMed ID: 20197130
    [Abstract] [Full Text] [Related]

  • 23. [Genetic analysis of a case with 2q37 microdeletion syndrome].
    Lian X, Zhang X, Huang M, Lin J, Zeng J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan 10; 39(1):81-84. PubMed ID: 34964974
    [Abstract] [Full Text] [Related]

  • 24. [Accurate detection of a case with Angelman syndrome (type 1) using SNP array].
    Shi S, Lin S, Liao Y, Li W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):824-828. PubMed ID: 27984614
    [Abstract] [Full Text] [Related]

  • 25. [Genotype and phenotype analysis of a child with partial 18q deletion syndrome].
    Shi S, Guo L, Zha Q, Shi Z, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug 10; 34(4):567-570. PubMed ID: 28777861
    [Abstract] [Full Text] [Related]

  • 26. [Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome].
    Li F, Wu A, Xie X, Ma M, Tang J, Tang S, Tan W, Yin W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct 10; 41(10):1201-1205. PubMed ID: 39344614
    [Abstract] [Full Text] [Related]

  • 27. [A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].
    Hu JC, Tan K, Cheng DH, Li LY, Lu GX, Tan YQ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb 10; 30(1):87-90. PubMed ID: 23450488
    [Abstract] [Full Text] [Related]

  • 28. [Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome].
    Wang Y, Chen X, Xue H, Chen L, Chen M, Huang H, He D, Xu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug 10; 38(8):735-739. PubMed ID: 34365613
    [Abstract] [Full Text] [Related]

  • 29. [Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].
    Lin S, Luo Y, Wu J, Chen B, Ji Y, Zhou Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb 10; 34(1):89-92. PubMed ID: 28186603
    [Abstract] [Full Text] [Related]

  • 30. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
    Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M.
    Eur J Hum Genet; 2009 Jan 10; 17(1):129-32. PubMed ID: 18830230
    [Abstract] [Full Text] [Related]

  • 31. Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.
    Ji TY, Chia D, Wang JM, Wu Y, Li J, Xiao J, Jiang YW.
    Chin Med J (Engl); 2010 Jul 10; 123(13):1663-7. PubMed ID: 20819625
    [Abstract] [Full Text] [Related]

  • 32. [Prenatal diagnosis of a case of Pallister-Killian syndrome].
    Xi H, Wang H, Jia Z, Zhou Y, Yu H, Liu J, Wu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb 10; 32(1):73-6. PubMed ID: 25636105
    [Abstract] [Full Text] [Related]

  • 33. Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.
    Luo H, Chang R, Liu F, Gao X.
    Altern Ther Health Med; 2023 Nov 10; 29(8):907-909. PubMed ID: 37708564
    [Abstract] [Full Text] [Related]

  • 34. [Phenotypic and genetic analysis of a boy with inv dup del(8p)].
    Zhang B, Cui W, Zhang Z, Li J, Lyu N, Ma C, Shang Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun 10; 38(6):581-584. PubMed ID: 34096031
    [Abstract] [Full Text] [Related]

  • 35. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.
    Battaglia A, Filippi T, Carey JC.
    Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):246-51. PubMed ID: 18932224
    [Abstract] [Full Text] [Related]

  • 36. [Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].
    Zhang L, Ren M, Song G, Liu X, Zhang J, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb 10; 34(1):50-52. PubMed ID: 28186593
    [Abstract] [Full Text] [Related]

  • 37. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
    Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, Beemer FA, Hochstenbach PF, Poot M.
    Eur J Hum Genet; 2007 Nov 10; 15(11):1132-8. PubMed ID: 17637805
    [Abstract] [Full Text] [Related]

  • 38. [Genetic analysis of a child with mental retardation and hypospadia].
    Ma N, Pang J, Peng Y, Jia Z, Xi H, Liu G, Zhou Y, Wang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec 10; 36(12):1199-1202. PubMed ID: 31813147
    [Abstract] [Full Text] [Related]

  • 39. [Application of single nucleotide polymorphism-based array analysis for prenatal diagnosis of a fetus with de novo derivative chromosome].
    Wu J, He Z, Zhang Z, Chen B, Xie Y, Lin S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct 10; 33(5):678-81. PubMed ID: 27577222
    [Abstract] [Full Text] [Related]

  • 40. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
    Syrrou M, Borghgraef M, Fryns JP.
    Am J Med Genet; 2001 Dec 01; 104(3):199-203. PubMed ID: 11754044
    [Abstract] [Full Text] [Related]

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