These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

296 related articles for article (PubMed ID: 30279644)

  • 61. Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
    Xie B; Fan X; Lei Y; Yi S; Yang Q; Wang J; Qin Z; Shen F; Luo J; Shen Y
    Mol Med Rep; 2020 Jun; 21(6):2296-2302. PubMed ID: 32236581
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
    Pena LDM; Jiang YH; Schoch K; Spillmann RC; Walley N; Stong N; Rapisardo Horn S; Sullivan JA; McConkie-Rosell A; Kansagra S; Smith EC; El-Dairi M; Bellet J; Keels MA; Jasien J; Kranz PG; Noel R; Nagaraj SK; Lark RK; Wechsler DSG; Del Gaudio D; Leung ML; Hendon LG; Parker CC; Jones KL; ; Goldstein DB; Shashi V
    Genet Med; 2018 Apr; 20(4):464-469. PubMed ID: 28914269
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
    Koyama S; Sato H; Wada M; Kawanami T; Emi M; Kato T
    BMC Med Genet; 2017 Mar; 18(1):37. PubMed ID: 28347285
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
    Diaz-Horta O; Duman D; Foster J; Sırmacı A; Gonzalez M; Mahdieh N; Fotouhi N; Bonyadi M; Cengiz FB; Menendez I; Ulloa RH; Edwards YJ; Züchner S; Blanton S; Tekin M
    PLoS One; 2012; 7(11):e50628. PubMed ID: 23226338
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients.
    Nakamichi K; Van Gelder RN; Chao JR; Mustafi D
    Sci Rep; 2023 May; 13(1):8535. PubMed ID: 37237007
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
    Engelhardt KR; Xu Y; Grainger A; Germani Batacchi MG; Swan DJ; Willet JD; Abd Hamid IJ; Agyeman P; Barge D; Bibi S; Jenkins L; Flood TJ; Abinun M; Slatter MA; Gennery AR; Cant AJ; Santibanez Koref M; Gilmour K; Hambleton S
    J Clin Immunol; 2017 Jan; 37(1):42-50. PubMed ID: 27807805
    [TBL] [Abstract][Full Text] [Related]  

  • 67. The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
    Dudakova L; Evans CJ; Pontikos N; Hafford-Tear NJ; Malinka F; Skalicka P; Horinek A; Munier FL; Voide N; Studeny P; Vanikova L; Kubena T; Rojas Lopez KE; Davidson AE; Hardcastle AJ; Tuft SJ; Liskova P
    Exp Eye Res; 2019 May; 182():160-166. PubMed ID: 30851240
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
    AlAbdi L; Shamseldin HE; Khouj E; Helaby R; Aljamal B; Alqahtani M; Almulhim A; Hamid H; Hashem MO; Abdulwahab F; Abouyousef O; Jaafar A; Alshidi T; Al-Owain M; Alhashem A; Al Tala S; Khan AO; Mardawi E; Alkuraya H; Faqeih E; Afqi M; Alkhalifi S; Rahbeeni Z; Hagos ST; Al-Ahmadi W; Nadeef S; Maddirevula S; Khabar KSA; Putra A; Angelov A; Park C; Reyes-Ramos AM; Umer H; Ullah I; Driguez P; Fukasawa Y; Cheung MS; Gallouzi IE; Alkuraya FS
    Genome Med; 2023 Dec; 15(1):114. PubMed ID: 38098057
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
    Xiao B; Wang L; Liu H; Fan Y; Xu Y; Sun Y; Qiu W
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00945. PubMed ID: 31454184
    [TBL] [Abstract][Full Text] [Related]  

  • 70. [Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].
    Qiu ZQ; Wei M; Liu G; Liu GY
    Zhonghua Er Ke Za Zhi; 2003 Apr; 41(4):252-5. PubMed ID: 14754525
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
    Matern D; Seydewitz HH; Bali D; Lang C; Chen YT
    Eur J Pediatr; 2002 Oct; 161 Suppl 1():S10-9. PubMed ID: 12373566
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
    Barkaoui E; Cherif W; Tebib N; Charfeddine C; Ben Rhouma F; Azzouz H; Ben Chehida A; Monastiri K; Chemli J; Amri F; Ben Turkia H; Abdelmoula MS; Kaabachi N; Abdelhak S; Ben Dridi MF
    J Inherit Metab Dis; 2007 Nov; 30(6):989. PubMed ID: 18008183
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
    Bradshaw G; Lualhati RR; Albury CL; Maksemous N; Roos-Araujo D; Smith RA; Benton MC; Eccles DA; Lea RA; Sutherland HG; Haupt LM; Griffiths LR
    Front Immunol; 2018; 9():420. PubMed ID: 29556235
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in
    Robyns T; Willems R; Van Cleemput J; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Breckpot J; Devriendt K; Corveleyn A
    Acta Cardiol; 2020 Dec; 75(8):748-753. PubMed ID: 31583969
    [No Abstract]   [Full Text] [Related]  

  • 75. Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
    Michaelson-Cohen R; Murik O; Zeligson S; Lobel O; Weiss O; Picard E; Mann T; Mor-Shaked H; Zeevi DA; Segel R
    Mol Genet Genomics; 2022 Jul; 297(4):925-933. PubMed ID: 35488049
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
    Wormser O; Gradstein L; Kadar E; Yogev Y; Perez Y; Mashkit E; Elbedour K; Drabkin M; Markus B; Kadir R; Halperin D; Khalaila S; Levy J; Lifshitz T; Manor E; Birk OS
    Am J Med Genet A; 2018 Dec; 176(12):2695-2703. PubMed ID: 30513137
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion.
    Trioche P; Francoual J; Audibert F; Chalas J; Lindenbaum A; Odièvre M; Labrune P
    Prenat Diagn; 1998 Jun; 18(6):629-31. PubMed ID: 9664612
    [TBL] [Abstract][Full Text] [Related]  

  • 78. The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.
    Daida K; Yoshino H; Malik L; Baker B; Ishiguro M; Genner R; Paquette K; Li Y; Nishioka K; Masuzugawa S; Hirano M; Takahashi K; Kolmogolv M; Billingsley KJ; Funayama M; Blauwendraat C; Hattori N
    medRxiv; 2024 Jun; ():. PubMed ID: 39108517
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Importance of complete phenotyping in prenatal whole exome sequencing.
    Aarabi M; Sniezek O; Jiang H; Saller DN; Bellissimo D; Yatsenko SA; Rajkovic A
    Hum Genet; 2018 Feb; 137(2):175-181. PubMed ID: 29392406
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
    Saeidian AH; Vahidnezhad H; Youssefian L; Sotudeh S; Sargazi M; Zeinali S; Uitto J
    Mol Genet Genomic Med; 2019 Nov; 7(11):e975. PubMed ID: 31560841
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.