BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

117 related articles for article (PubMed ID: 29783825)

  • 1. [Clinical and molecular analysis of two Chinese siblings with Bloom syndrome].
    Wu ML; Wang XM; Li J; Ding Y; Chen Y; Chang GY; Wang J; Shen YP
    Zhonghua Er Ke Za Zhi; 2018 May; 56(5):373-376. PubMed ID: 29783825
    [No Abstract]   [Full Text] [Related]  

  • 2. [Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].
    Zhou Z; Liu L; Wu M; Liu H; Cai Y; Sheng H; Li X; Cheng J; Li D; Huang Y
    Zhonghua Er Ke Za Zhi; 2016 Jan; 54(1):56-60. PubMed ID: 26791926
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bloom syndrome does not always present with sun-sensitive facial erythema.
    Bouman A; van Koningsbruggen S; Karakullukcu MB; Schreuder WH; Lakeman P
    Eur J Med Genet; 2018 Feb; 61(2):94-97. PubMed ID: 29056561
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
    Zhu H; Bao X; Zhang Y
    Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Analysis of clinical features and genetic variants in an infant with Bloom syndrome].
    Shan Y; Yang Z; Yang X; Lei K; Fu P; Yi M; Ma L; Ran N
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):764-766. PubMed ID: 32619260
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.
    Knerr I; Zschocke J; Schellmoser S; Topf HG; Weigel C; Dötsch J; Rascher W
    BMC Pediatr; 2005 Apr; 5(1):5. PubMed ID: 15811181
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bloom syndrome in two siblings.
    Sultan SJ; Sultan ST
    Pediatr Dermatol; 2010; 27(2):174-7. PubMed ID: 20537070
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Growth deficiency and malnutrition in Bloom syndrome.
    Keller C; Keller KR; Shew SB; Plon SE
    J Pediatr; 1999 Apr; 134(4):472-9. PubMed ID: 10190923
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
    Sybouts EH; Brown AD; Falcon-Cantrill MG; Thomas MH; DeNapoli T; Voeller J; Chen Y; Tomlinson GE; Bishop AJR
    Cold Spring Harb Mol Case Stud; 2021 Apr; 7(2):. PubMed ID: 33832920
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].
    Zhang R; He XH; Lin HY; Yang XH
    Zhonghua Er Ke Za Zhi; 2018 Feb; 56(2):138-141. PubMed ID: 29429203
    [No Abstract]   [Full Text] [Related]  

  • 11. [Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].
    He TY; Zhang N; Xia Y; Luo Y; Li CR; Yang J
    Zhonghua Er Ke Za Zhi; 2017 Dec; 55(12):942-946. PubMed ID: 29262476
    [No Abstract]   [Full Text] [Related]  

  • 12. Lens opacities in Bloom syndrome: case report and review of the literature.
    Cefle K; Ozturk S; Gozum N; Duman N; Mantar F; Guler K; Palanduz S
    Ophthalmic Genet; 2007 Sep; 28(3):175-8. PubMed ID: 17896317
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
    Kaneko H; Kondo N
    Expert Rev Mol Diagn; 2004 May; 4(3):393-401. PubMed ID: 15137905
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].
    Hong L; Liu J; Wu B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):595-597. PubMed ID: 31055814
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.
    Wayhelova M; Vallova V; Broz P; Mikulasova A; Machackova D; Filkova HD; Smetana J; Takacsova A; Gaillyova R; Kuglik P
    Mol Med Rep; 2023 May; 27(5):. PubMed ID: 37052241
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
    Trizuljak J; Petruchová T; Blaháková I; Vrzalová Z; Hořínová V; Doubková M; Michalka J; Mayer J; Pospíšilová Š; Doubek M
    Mol Syndromol; 2020 Jun; 11(2):73-82. PubMed ID: 32655338
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma.
    Kaneko H; Inoue R; Fukao T; Kasahara K; Tashita H; Teramoto T; Kondo N
    Leuk Lymphoma; 1997 Nov; 27(5-6):539-42. PubMed ID: 9477137
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
    Liu Y; Zou L; Meng Y; Zhang Y; Shi X; Ju J; Yang G; Hu L; Chen X
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):455-9. PubMed ID: 25190167
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
    Asahina M; Endoh Y; Matsubayashi T; Fukuda T; Ogata T
    Brain Dev; 2016 Mar; 38(3):337-40. PubMed ID: 26421802
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
    Pekpak Sahinoglu E; Oren AC; Sahinoglu B; Gumus U; Akbayram S
    J Pediatr Hematol Oncol; 2024 Mar; 46(2):e199-e201. PubMed ID: 38113221
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.