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 *

322 related articles for article (PubMed ID: 35806387)

  • 1. Homozygosity for a Novel
    Kivrak Pfiffner F; Koller S; Ménétrey A; Graf U; Bähr L; Maspoli A; Hackenberg A; Kottke R; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806387
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
    Nakashima M; Negishi Y; Hori I; Hattori A; Saitoh S; Saitsu H
    Am J Med Genet A; 2019 Apr; 179(4):645-649. PubMed ID: 30680869
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
    Perrault I; Hamdan FF; Rio M; Capo-Chichi JM; Boddaert N; Décarie JC; Maranda B; Nabbout R; Sylvain M; Lortie A; Roux PP; Rossignol E; Gérard X; Barcia G; Berquin P; Munnich A; Rouleau GA; Kaplan J; Rozet JM; Michaud JL
    Am J Hum Genet; 2014 Jun; 94(6):891-7. PubMed ID: 24814191
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
    Wang H; Huo L; Wang Y; Sun W; Gu W
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1779. PubMed ID: 34405590
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
    Sezer A; Kayhan G; Koç A; Ergün MA; Perçin FE
    Cytogenet Genome Res; 2020; 160(6):309-315. PubMed ID: 32599602
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
    Haberlandt E; Valovka T; Janjic T; Müller T; Blatsios G; Karall D; Janecke AR
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1607. PubMed ID: 33471954
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with
    Motta FL; Filippelli-Silva R; Kitajima JP; Batista DA; Wohler ES; Sobreira NL; Martin RP; Ferraz Sallum JM
    Ophthalmic Genet; 2021 Oct; 42(5):553-560. PubMed ID: 34157943
    [No Abstract]   [Full Text] [Related]  

  • 9. Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
    Nishino M; Tanaka M; Imagawa K; Yaita K; Enokizono T; Ohto T; Suzuki H; Yamada M; Takenouchi T; Kosaki K; Takada H
    Am J Med Genet A; 2024 Jul; 194(7):e63575. PubMed ID: 38407561
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern.
    Niida Y; Ozaki M; Shimizu M; Ueno K; Tanaka T
    Cytogenet Genome Res; 2018; 154(3):137-146. PubMed ID: 29656286
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
    Davids M; Markello T; Wolfe LA; Chepa-Lotrea X; Tifft CJ; Gahl WA; Malicdan MCV
    Hum Mutat; 2019 Jan; 40(1):42-47. PubMed ID: 30362252
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 13. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
    Ueda K; Ogawa S; Matsuda K; Hasegawa Y; Nishi E; Yanagi K; Kaname T; Yamamoto T; Okamoto N
    Am J Med Genet A; 2021 Oct; 185(10):3092-3098. PubMed ID: 34042275
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1.
    Niida Y; Yokoi A; Kuroda M; Mitani Y; Nakagawa H; Ozaki M
    Brain Dev; 2016 Aug; 38(7):674-7. PubMed ID: 26846731
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
    Labrijn-Marks I; Somers-Bolman GM; In 't Groen SLM; Hoogeveen-Westerveld M; Kroos MA; Ala-Mello S; Amaral O; Miranda CS; Mavridou I; Michelakakis H; Naess K; Verheijen FW; Hoefsloot LH; Dijkhuizen T; Benjamins M; van den Hout HJM; van der Ploeg AT; Pijnappel WWMP; Saris JJ; Halley DJ
    Eur J Hum Genet; 2019 Jun; 27(6):919-927. PubMed ID: 30737479
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Case Report: A Case of Epileptic Disorder Associated With a Novel
    Chen W; Chen F; Shen Y; Yang Z; Qin J
    Front Genet; 2021; 12():743833. PubMed ID: 34691156
    [No Abstract]   [Full Text] [Related]  

  • 18. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
    Jiang L; Bi S; Lin L; He F; Deng F
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2269. PubMed ID: 37593999
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the
    Molloy B; Jones ER; Linhares ND; Buckley PG; Leahy TR; Lynch B; Knerr I; King MD; Gorman KM
    Front Genet; 2022; 13():945296. PubMed ID: 36186440
    [TBL] [Abstract][Full Text] [Related]  

  • 20. First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
    Wang Y; Yu D; Wei W; Zheng H; Liu MH; Ma L; Qin LN; Wang NZ; Li JX; Wang JJ; Bi XL; Yan HL
    BMC Med Genomics; 2022 Jun; 15(1):136. PubMed ID: 35717189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.