BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 31680349)

  • 61. Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
    Zhang X; You Y; Xie X; Xu H; Zhou H; Lei Y; Sun P; Meng Y; Wang L; Lu Y
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1524. PubMed ID: 33030252
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
    Zhou J; Yang Z; Sun J; Liu L; Zhou X; Liu F; Xing Y; Cui S; Xiong S; Liu X; Yang Y; Wei X; Zou G; Wang Z; Wei X; Wang Y; Zhang Y; Yan S; Wu F; Zeng F; Wang J; Duan T; Peng Z; Sun L
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33800913
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Parental perceptions of prenatal whole exome sequencing (PPPWES) study.
    Wou K; Weitz T; McCormack C; Wynn J; Spiegel E; Giordano J; Wapner RJ; Chung WK
    Prenat Diagn; 2018 Oct; 38(11):801-811. PubMed ID: 30035818
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
    Landstrom AP; Fernandez E; Rosenfeld JA; Yang Y; Dailey-Schwartz AL; Miyake CY; Allen HD; Penny DJ; Kim JJ
    Heart Rhythm; 2018 Jul; 15(7):1042-1050. PubMed ID: 29501670
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in
    Linpeng S; Liu J; Pan J; Cao Y; Teng Y; Liang D; Li Z; Wu L
    Biomed Res Int; 2018; 2018():4032543. PubMed ID: 30581852
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.
    Yang J; Yan Z; Liu Y; Zhu X; Li R; Liu P; Yan L; Qiao J; Zhi X
    J Assist Reprod Genet; 2021 Nov; 38(11):2881-2891. PubMed ID: 34608573
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
    Marangoni M; Smits G; Ceysens G; Costa E; Coulon R; Daelemans C; De Coninck C; Derisbourg S; Gajewska K; Garofalo G; Gounongbe C; Guizani M; Holoye A; Houba C; Makhoul J; Norgaard C; Regnard C; Romée S; Soto J; Stagel-Trabbia A; Van Rysselberge M; Vercoutere A; Zaytouni S; Bouri S; D'Haene N; D'Onle D; Dugauquier C; Racu ML; Rocq L; Segers V; Verocq C; Avni EF; Cassart M; Massez A; Blaumeiser B; Brischoux-Boucher E; Bulk S; De Ravel T; Debray G; Dimitrov B; Janssens S; Keymolen K; Laterre M; van Berkel K; Van Maldergem L; Vandernoot I; Vilain C; Donner C; Tecco L; Thomas D; Désir J; Abramowicz M; Migeotte I
    Genet Med; 2022 Feb; 24(2):344-363. PubMed ID: 34906519
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
    Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
    [TBL] [Abstract][Full Text] [Related]  

  • 69. A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.
    Dai L; Li J; Xie L; Wang W; Lu Y; Xie M; Huang J; Shen K; Yang H; Pei C; Zhao Y; Zhang W
    J Am Soc Nephrol; 2021 Aug; 32(8):1871-1879. PubMed ID: 34049960
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J; Yang YD; He Y; Liu WJ; Zhen L; Pan M; Yang X; Zhang VW; Liao C; Li DZ
    Prenat Diagn; 2020 Apr; 40(5):577-584. PubMed ID: 31994750
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.
    He WB; Tan YQ; Hu X; Li W; Xiong B; Luo KL; Gong F; Lu GX; Lin G; Du J
    BMC Med Genet; 2018 Jan; 19(1):15. PubMed ID: 29368589
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.
    Xue H; Yu A; Zhang L; Chen L; Guo Q; Lin M; Lin N; Chen X; Xu L; Huang H
    Sci Rep; 2024 Jan; 14(1):2190. PubMed ID: 38273042
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
    Wang L; Li R; Zhai J; Zhang B; Wu J; Pang L; Liu Y
    Medicine (Baltimore); 2022 Oct; 101(43):e31321. PubMed ID: 36316869
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Whole Exome Sequencing: Applications in Prenatal Genetics.
    Jelin AC; Vora N
    Obstet Gynecol Clin North Am; 2018 Mar; 45(1):69-81. PubMed ID: 29428287
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Fetal phenotypes of Mendelian disorders: A descriptive study from India.
    Saini N; Venkatapuram VS; Vineeth VS; Kulkarni A; Tandon A; Koppolu G; Patil SJ; Dalal A; Aggarwal S
    Prenat Diagn; 2022 Jun; 42(7):911-926. PubMed ID: 35587316
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
    Najafi K; Mehrjoo Z; Ardalani F; Ghaderi-Sohi S; Kariminejad A; Kariminejad R; Najmabadi H
    Sci Rep; 2021 Mar; 11(1):6952. PubMed ID: 33772059
    [TBL] [Abstract][Full Text] [Related]  

  • 77. The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China.
    Li Y; Yan H; Chen J; Chen F; Jian W; Wang J; Ye X; Li Y; Li N; Chiu PCN; Chen M
    BMC Pregnancy Childbirth; 2021 Mar; 21(1):266. PubMed ID: 33784964
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.
    Peng Y; Yang S; Huang X; Pang J; Liu J; Hu J; Shen X; Tang C; Wang H
    Front Genet; 2021; 12():728544. PubMed ID: 34567078
    [No Abstract]   [Full Text] [Related]  

  • 79. [Application of whole exome sequencing technology in fetuses with congenital structural abnormalities].
    Li L; Fu F; Li R; Yu Q; Wang D; Lei T; Deng Q; Zhang W; Du K; Yang X; Han J; Zhen L; Pan M; Zhang L; Li F; Zhang Y; Jing X; Li D; Liao C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):900-906. PubMed ID: 34487541
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
    Zhang X; Ren Y; Song R; Wang L; Xu H; Xie X; Zhou H; Sun P; Zhang M; Zhao Q; You Y; Gao Z; Meng Y; Lu Y
    Prenat Diagn; 2021 Oct; 41(11):1401-1413. PubMed ID: 34091931
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.