BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 31944631)

  • 41. Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.
    Wang Y; Chen Q; Zhang F; Yang X; Shang L; Ren S; Pan Y; Zhou Z; Li G; Fang Y; Jin L; Wu Y; Zhang X
    Mol Genet Genomic Med; 2022 Jan; 10(1):e1820. PubMed ID: 34845858
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.
    Ansari H; Mohammadi-Asl J; Hajjari M; Tahmasebi-Birgani M; Kollaee A; Jassemi-Zergani F; Vakili-Hajiagha A
    J Gene Med; 2019 Aug; 21(8):e3103. PubMed ID: 31177591
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A case of pycnodysostosis presented with pathological femoral shaft fracture.
    Singh S; Sambandam B
    Indian J Med Res; 2014 Jan; 139(1):180-1. PubMed ID: 24604056
    [No Abstract]   [Full Text] [Related]  

  • 44. Secondary findings in 421 whole exome-sequenced Chinese children.
    Chen W; Li W; Ma Y; Zhang Y; Han B; Liu X; Zhao K; Zhang M; Mi J; Fu Y; Zhou Z
    Hum Genomics; 2018 Sep; 12(1):42. PubMed ID: 30217213
    [TBL] [Abstract][Full Text] [Related]  

  • 45.
    Lyraki M; Hibbert A; Langley-Hobbs S; Lait P; Buckley RM; Warren WC; Lyons LA;
    JFMS Open Rep; 2022; 8(2):20551169221137536. PubMed ID: 36532681
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.
    Girbal I; Nunes T; Medeira A; Bandeira T
    BMJ Case Rep; 2013 Sep; 2013():. PubMed ID: 24057333
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
    Mojbafan M; Nojehdeh ST; Rahiminejad F; Nilipour Y; Tonekaboni SH; Zeinali S
    BMC Med Genet; 2020 Apr; 21(1):77. PubMed ID: 32293312
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Increased Bone Resorption during Lactation in Pycnodysostosis.
    Jansen IDC; Papapoulos SE; Bravenboer N; de Vries TJ; Appelman-Dijkstra NM
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33670411
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
    Nomura A; Tada H; Teramoto R; Konno T; Hodatsu A; Won HH; Kathiresan S; Ino H; Fujino N; Yamagishi M; Hayashi K
    J Cardiol; 2016 Feb; 67(2):133-9. PubMed ID: 26443374
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.
    Zarepour N; Koohiyan M; Taghipour-Sheshdeh A; Nemati-Zargaran F; Saki N; Mohammadi-Asl J; Tabatabaiefar MA; Hashemzadeh-Chaleshtori M
    Audiol Neurootol; 2019; 24(1):25-31. PubMed ID: 30943474
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A novel pathogenic variant of
    Pourahmadiyan A; Heidari M; Shojaaldini Ardakani H; Noorian S; Savad S
    Int J Neurosci; 2021 Sep; 131(9):875-878. PubMed ID: 32345087
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Clinical and genetic analysis of a patient with short stature due to variant of RPL13 gene].
    Wen H; Wu K; Shu Q; He X; Xue Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):586-590. PubMed ID: 38684306
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Identification of a Novel Homozygous Mutation in
    Dehani M; Zare-Abdollahi D; Bushehri A; Dehghani A; Effati J; Miratashi SAM; Khorram Khorshid HR
    Avicenna J Med Biotechnol; 2021; 13(4):230-233. PubMed ID: 34900151
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
    Akçakaya NH; Salman B; Görmez Z; Tarkan Argüden Y; Çırakoğlu A; Çakmur R; Dönmez Çolakoğlu B; Hacıhanefioğlu S; Özbek U; Yapıcı Z; Uğur İşeri SA
    Neuromolecular Med; 2019 Mar; 21(1):54-59. PubMed ID: 30612247
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
    Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
    Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Whole exome sequencing revealed a novel dystrophin-related protein-2 (
    Tahmasebi-Birgani M; Hajjari M; Golchin N; Shalbafan B; Mohammadi-Asl J; Sadeghian F
    Iran J Basic Med Sci; 2019 May; 22(5):576-580. PubMed ID: 31217940
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.
    Johnson MR; Polymeropoulos MH; Vos HL; Ortiz de Luna RI; Francomano CA
    Genome Res; 1996 Nov; 6(11):1050-5. PubMed ID: 8938428
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features.
    Caracas HP; Figueiredo PS; Mestrinho HD; Acevedo AC; Leite AF
    Clin Dysmorphol; 2012 Jan; 21(1):19-21. PubMed ID: 21968522
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
    Ye Y; Li W; Wang G; Zhan L; Lin J; Li T; Zhang J
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1758. PubMed ID: 34423584
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].
    Zhang J; Li Y; Luo H; Shen Y; Yuan M; Yang Z; Gan J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar; 39(3):293-296. PubMed ID: 35315038
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.