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PUBMED FOR HANDHELDS

Journal Abstract Search


194 related items for PubMed ID: 27455007

  • 41. [Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].
    Cammarata-Scalisi F, Blanco Lago R, Barruz Galián P, Lapunzina Badía P, Araque D, Da Silva G, Lacruz-Rengel MA, Avendaño A, Nevado Blanco J.
    Arch Argent Pediatr; 2019 Aug 01; 117(4):e406-e412. PubMed ID: 31339285
    [Abstract] [Full Text] [Related]

  • 42. Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.
    Dallapiccola B, Bernardini L, Novelli A, Mingarelli R.
    Am J Med Genet A; 2009 Mar 01; 149A(3):546-8. PubMed ID: 19215045
    [No Abstract] [Full Text] [Related]

  • 43. [Diagnosis of a case with recurrent pregnancy loss resulted from maternal balanced translocation by chromosomal microarray analysis].
    Wang L, Bai N, Liu L, Zhang Q, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun 10; 35(3):443-447. PubMed ID: 29896752
    [Abstract] [Full Text] [Related]

  • 44. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
    Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR.
    J Med Genet; 2004 Sep 10; 41(9):691-8. PubMed ID: 15342700
    [No Abstract] [Full Text] [Related]

  • 45. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
    Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.
    J Med Genet; 2008 Feb 10; 45(2):71-80. PubMed ID: 17873117
    [Abstract] [Full Text] [Related]

  • 46. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
    Zhu H, Wang A, Zhang H, Ji C, Zhan X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 10; 31(5):623-7. PubMed ID: 25297596
    [Abstract] [Full Text] [Related]

  • 47. Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
    Paskulin GA, Riegel M, Cotter PD, Kiss A, Rosa RF, Zen PR, Mombach R, Graziadio C.
    Am J Med Genet A; 2009 Jun 10; 149A(6):1302-7. PubMed ID: 19449429
    [Abstract] [Full Text] [Related]

  • 48. [Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].
    Zhang W, Guo Z, Wang W, Sun Y, Zhang C, Wang X, Zhang L, Wang C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr 10; 35(2):232-235. PubMed ID: 29652999
    [Abstract] [Full Text] [Related]

  • 49. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.
    Prenat Diagn; 2005 Jun 10; 25(6):451-5. PubMed ID: 15966060
    [Abstract] [Full Text] [Related]

  • 50. Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.
    Coppola A, Chinthapalli K, Hammond P, Sander JW, Sisodiya SM.
    Gene; 2013 Jan 10; 512(2):532-5. PubMed ID: 23064045
    [Abstract] [Full Text] [Related]

  • 51. [Clinical features and genetic analysis of two cases with 16p13.3 microdeletion and 19q13.4 microduplication derived from familial cryptic balanced translocation].
    Xu H, Ji X, Ni L, Zhu Y, Chen Y, Xiao B.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug 10; 33(4):490-3. PubMed ID: 27455004
    [Abstract] [Full Text] [Related]

  • 52. Clinical features in adult patient with Wolf-Hirschhorn syndrome.
    Martínez-Quintana E, Rodríguez-González F.
    Morphologie; 2014 Jun 10; 98(321):86-9. PubMed ID: 24656633
    [Abstract] [Full Text] [Related]

  • 53. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
    Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.
    Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):257-69. PubMed ID: 18932124
    [Abstract] [Full Text] [Related]

  • 54. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
    Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D.
    Epilepsia; 2014 Jun 15; 55(6):849-57. PubMed ID: 24738919
    [Abstract] [Full Text] [Related]

  • 55. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
    Estabrooks LL, Rao KW, Korf B.
    Am J Med Genet; 1993 Jan 01; 45(1):97-100. PubMed ID: 8418669
    [Abstract] [Full Text] [Related]

  • 56. [Prenatal diagnosis for a women with a suspected birth history of Angelman syndrome].
    Guo C, Xiao J, Wang J, Yang L, Tang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec 01; 32(6):827-9. PubMed ID: 26663058
    [Abstract] [Full Text] [Related]

  • 57. [Study of two cases of prenatally detected small supernumerary marker chromosomes].
    Zeng Y, Fan J, Xu P, Zhang L, Qian F, Luo T.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug 01; 33(4):498-500. PubMed ID: 27455006
    [Abstract] [Full Text] [Related]

  • 58. On the deletion 4p16 Wolf-Hirschhorn syndrome.
    Rivas F, Hernandez A, Nazara Z, Fragoso R, Olivares N, Rolon A, Cantu JM.
    Ann Genet; 1979 Aug 01; 22(4):228-31. PubMed ID: 317787
    [Abstract] [Full Text] [Related]

  • 59. [Genetic analysis of a child with Sotos syndrome].
    Luo Y, Sun Y, Qian Y, Shen M, Wang L, Jin F, Dong M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb 10; 37(2):127-130. PubMed ID: 32034736
    [Abstract] [Full Text] [Related]

  • 60. [Genetic diagnosis and analysis for two cases of ring chromosome 22].
    Peng Y, Tang G, Zhang R, Zhang Y, Xia Y, Ma R, Guo R, Wu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug 10; 33(4):494-7. PubMed ID: 27455005
    [Abstract] [Full Text] [Related]


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