BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 36652953)

  • 1. A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
    Quental R; Sampaio M; Alonso I; Quental S; Leão M; Sousa R
    Neuropediatrics; 2023 Apr; 54(2):120-125. PubMed ID: 36652953
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
    Hori I; Ieda D; Ito S; Ebe S; Nakamura Y; Ohashi K; Aoyama K; Hattori A; Kokubo M; Saitoh S
    Brain Dev; 2021 Apr; 43(4):590-595. PubMed ID: 33402283
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
    Accogli A; Guerrero K; D'Agostino MD; Tran L; Cieuta-Walti C; Thiffault I; Chénier S; Schwartzentruber J; Majewski J; ; Bernard G
    J Child Neurol; 2019 Feb; 34(2):74-80. PubMed ID: 30486714
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
    Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z
    BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
    Siavrienė E; Petraitytė G; Mikštienė V; Rančelis T; Maldžienė Ž; Morkūnienė A; Byčkova J; Utkus A; Kučinskas V; Preikšaitienė E
    BMC Med Genet; 2019 Jul; 20(1):127. PubMed ID: 31315586
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
    Meng L; Donti T; Xia F; Niu Z; Al Shamsi A; Hertecant J; Al-Jasmi F; Gibson JB; Nagakura H; Zhang J; He W; Eng C; Yang Y; Elsea SH
    Am J Med Genet A; 2017 Feb; 173(2):460-470. PubMed ID: 27860360
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
    Purnell SM; Bleyl SB; Bonkowsky JL
    Pediatr Neurol; 2014 Jun; 50(6):608-11. PubMed ID: 24742798
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in
    Naseer MI; Abdulkareem AA; Pushparaj PN; Bibi F; Chaudhary AG
    Front Genet; 2020; 11():14. PubMed ID: 32153630
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biallelic pathogenic variants in
    Macintosh J; Perrier S; Pinard M; Tran LT; Guerrero K; Prasad C; Prasad AN; Pastinen T; Thiffault I; Coulombe B; Bernard G
    Front Neurol; 2023; 14():1254140. PubMed ID: 37915380
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.
    Yoon Han J; Gon Cho Y; Park J; Jang W
    Clin Chim Acta; 2022 Aug; 533():15-21. PubMed ID: 35691411
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
    Gupta S; Schwab M; Valdez-Gonzalez K; Segal E
    Eur J Med Genet; 2020 Sep; 63(9):103970. PubMed ID: 32531460
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
    Manaspon C; Boonsimma P; Phokaew C; Theerapanon T; Sriwattanapong K; Porntaveetus T; Shotelersuk V
    Am J Med Genet A; 2021 Oct; 185(10):3068-3073. PubMed ID: 34037307
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.
    Lin Y; Zeng C; Lu Z; Lin R; Liu L
    Clin Genet; 2019 Jul; 96(1):98-101. PubMed ID: 31056748
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
    Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M
    Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
    Geetha TS; Lingappa L; Jain AR; Govindan H; Mandloi N; Murugan S; Gupta R; Vedam R
    Mol Genet Genomic Med; 2018 Mar; 6(2):282-287. PubMed ID: 29271071
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
    Jacob A; Pasquier J; Carapito R; Auradé F; Molitor A; Froguel P; Fakhro K; Halabi N; Viot G; Bahram S; Rafii A
    BMC Med Genet; 2020 Sep; 21(1):182. PubMed ID: 32943010
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Homozygous
    Li L; Bu X; Ji Y; Tan P; Liu S
    Front Pediatr; 2021; 9():651621. PubMed ID: 33959574
    [No Abstract]   [Full Text] [Related]  

  • 19. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
    Shukla A; Das Bhowmik A; Hebbar M; Rajagopal KV; Girisha KM; Gupta N; Dalal A
    J Hum Genet; 2018 Jan; 63(1):19-25. PubMed ID: 29215095
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
    Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
    PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.