BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 36980979)

  • 1. A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
    Ibrahim N; Naz S; Mattioli F; Guex N; Sharif S; Iqbal A; Ansar M; Reymond A
    Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36980979
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
    Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
    Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
    Saida K; Tamaoki J; Sasaki M; Haniffa M; Koshimizu E; Sengoku T; Maeda H; Kikuchi M; Yokoyama H; Sakamoto M; Iwama K; Sekiguchi F; Hamanaka K; Fujita A; Mizuguchi T; Ogata K; Miyake N; Miyatake S; Kobayashi M; Matsumoto N
    Clin Genet; 2021 Dec; 100(6):722-730. PubMed ID: 34569062
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
    Kour S; Rajan DS; Fortuna TR; Anderson EN; Ward C; Lee Y; Lee S; Shin YB; Chae JH; Choi M; Siquier K; Cantagrel V; Amiel J; Stolerman ES; Barnett SS; Cousin MA; Castro D; McDonald K; Kirmse B; Nemeth AH; Rajasundaram D; Innes AM; Lynch D; Frosk P; Collins A; Gibbons M; Yang M; Desguerre I; Boddaert N; Gitiaux C; Rydning SL; Selmer KK; Urreizti R; Garcia-Oguiza A; Osorio AN; Verdura E; Pujol A; McCurry HR; Landers JE; Agnihotri S; Andriescu EC; Moody SB; Phornphutkul C; Sacoto MJG; Begtrup A; Houlden H; Kirschner J; Schorling D; Rudnik-Schöneborn S; Strom TM; Leiz S; Juliette K; Richardson R; Yang Y; Zhang Y; Wang M; Wang J; Wang X; Platzer K; Donkervoort S; Bönnemann CG; Wagner M; Issa MY; Elbendary HM; Stanley V; Maroofian R; Gleeson JG; Zaki MS; Senderek J; Pandey UB
    Nat Commun; 2021 May; 12(1):2558. PubMed ID: 33963192
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
    Francisco-Velilla R; Embarc-Buh A; Del Caño-Ochoa F; Abellan S; Vilar M; Alvarez S; Fernandez-Jaen A; Kour S; Rajan DS; Pandey UB; Ramón-Maiques S; Martinez-Salas E
    Life Sci Alliance; 2022 Jul; 5(7):. PubMed ID: 35393353
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
    BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phosphorylation of T897 in the dimerization domain of Gemin5 modulates protein interactions and translation regulation.
    Francisco-Velilla R; Embarc-Buh A; Abellan S; Del Caño-Ochoa F; Ramón-Maiques S; Martinez-Salas E
    Comput Struct Biotechnol J; 2022; 20():6182-6191. PubMed ID: 36420152
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
    J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Missense Variant in
    Usmani MA; Ghaffar A; Shahzad M; Akram J; Majeed AI; Malik K; Fatima K; Khan AA; Ahmed ZM; Riazuddin S; Riazuddin S
    Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790209
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
    Rasool IG; Zahoor MY; Iqbal M; Anjum AA; Ashraf F; Abbas HQ; Baig HMA; Mahmood T; Shehzad W
    Genes Genomics; 2021 May; 43(5):503-512. PubMed ID: 33710595
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
    Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
    Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in
    Rajan DS; Kour S; Fortuna TR; Cousin MA; Barnett SS; Niu Z; Babovic-Vuksanovic D; Klee EW; Kirmse B; Innes M; Rydning SL; Selmer KK; Vigeland MD; Erichsen AK; Nemeth AH; Millan F; DeVile C; Fawcett K; Legendre A; Sims D; Schnekenberg RP; Burglen L; Mercier S; Bakhtiari S; Francisco-Velilla R; Embarc-Buh A; Martinez-Salas E; Wigby K; Lenberg J; Friedman JR; Kruer MC; Pandey UB
    Front Cell Dev Biol; 2022; 10():783762. PubMed ID: 35295849
    [TBL] [Abstract][Full Text] [Related]  

  • 14. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
    Nazmina G; Khan A; Jiang J; Miao Z; Khan SN; Khan MI; Shah AH; Shah AH; Khisroon M; Haack TB
    Clin Genet; 2024 Apr; 105(4):423-429. PubMed ID: 38088234
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
    Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
    J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
    Torun D; Arslan M; Çavdarlı B; Akar H; Cram DS
    Turk J Pediatr; 2022; 64(5):956-963. PubMed ID: 36305450
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
    Hancarova M; Babikyan D; Bendova S; Midyan S; Prchalova D; Shahsuvaryan G; Stranecky V; Sarkisian T; Sedlacek Z
    Mol Genet Genomic Med; 2019 Sep; 7(9):e865. PubMed ID: 31334606
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Bi-allelic
    Rasheed A; Gumus E; Zaki M; Johnson K; Manzoor H; LaForce G; Ross D; McEvoy-Venneri J; Stanley V; Lee S; Virani A; Ben-Omran T; Gleeson JG; Naz S; Schaffer A
    J Med Genet; 2021 Apr; 58(4):237-246. PubMed ID: 32439809
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biallelic variants in
    Okur V; Ganapathi M; Wilson A; Chung WK
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275004
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.