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 *

131 related articles for article (PubMed ID: 36168972)

  • 1. Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.
    Rosado Santos R; Rodrigues M; Loureiro T
    Acta Med Port; 2023 Jun; 36(6):428-431. PubMed ID: 36168972
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.
    Harel T; Hacohen N; Shaag A; Gomori M; Singer A; Elpeleg O; Meiner V
    Am J Med Genet A; 2017 Sep; 173(9):2539-2544. PubMed ID: 28686357
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.
    Zhang YL; Jing XY; Zhen L; Pan M; Han J; Li DZ
    Eur J Obstet Gynecol Reprod Biol; 2022 Jul; 274():28-32. PubMed ID: 35567955
    [TBL] [Abstract][Full Text] [Related]  

  • 4. In utero MR imaging in fetuses at high risk of lissencephaly.
    Williams F; Griffiths PD
    Br J Radiol; 2017 Apr; 90(1072):20160902. PubMed ID: 28134568
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical spectrum in multiple families with primary COQ
    Hashemi SS; Zare-Abdollahi D; Bakhshandeh MK; Vafaee A; Abolhasani S; Inanloo Rahatloo K; DanaeeFard F; Farboodi N; Rohani M; Alavi A
    Am J Med Genet A; 2021 Feb; 185(2):440-452. PubMed ID: 33215859
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis of lissencephaly: a case report.
    Aslan H; Gungorduk K; Yildirim D; Aslan O; Yildirim G; Ceylan Y
    J Clin Ultrasound; 2009 May; 37(4):245-8. PubMed ID: 19260111
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.
    Barca E; Kleiner G; Tang G; Ziosi M; Tadesse S; Masliah E; Louis ED; Faust P; Kang UJ; Torres J; Cortes EP; Vonsattel JP; Kuo SH; Quinzii CM
    J Neuropathol Exp Neurol; 2016 Jul; 75(7):663-72. PubMed ID: 27235405
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Personalized Model of
    Zhu JY; Fu Y; Richman A; Zhao Z; Ray PE; Han Z
    J Am Soc Nephrol; 2017 Sep; 28(9):2607-2617. PubMed ID: 28428331
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
    Fallet-Bianco C; Loeuillet L; Poirier K; Loget P; Chapon F; Pasquier L; Saillour Y; Beldjord C; Chelly J; Francis F
    Brain; 2008 Sep; 131(Pt 9):2304-20. PubMed ID: 18669490
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
    Drovandi S; Lipska-Ziętkiewicz BS; Ozaltin F; Emma F; Gulhan B; Boyer O; Trautmann A; Xu H; Shen Q; Rao J; Riedhammer KM; Heemann U; Hoefele J; Stenton SL; Tsygin AN; Ng KH; Fomina S; Benetti E; Aurelle M; Prikhodina L; Schreuder MF; Tabatabaeifar M; Jankowski M; Baiko S; Mao J; Feng C; Liu C; Sun S; Deng F; Wang X; Clavé S; Stańczyk M; Bałasz-Chmielewska I; Fila M; Durkan AM; Levart TK; Dursun I; Esfandiar N; Haas D; Bjerre A; Anarat A; Benz MR; Talebi S; Hooman N; Ariceta G; ; ; ; Schaefer F
    Kidney Int; 2022 Sep; 102(3):604-612. PubMed ID: 35643375
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.
    Eroglu FK; Ozaltin F; Gönç N; Nalçacıoğlu H; Özçakar ZB; Yalnızoğlu D; Güçer Ş; Orhan D; Eminoğlu FT; Göçmen R; Alikaşifoğlu A; Topaloğlu R; Düzova A
    Pediatr Neurol; 2018 Nov; 88():71-74. PubMed ID: 30337132
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].
    Xu K; Mao XY; Yao Y; Cheng H; Zhang XJ
    Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):662-666. PubMed ID: 30180404
    [No Abstract]   [Full Text] [Related]  

  • 13. A practical approach to prenatal diagnosis of malformations of cortical development.
    Lerman-Sagie T; Pogledic I; Leibovitz Z; Malinger G
    Eur J Paediatr Neurol; 2021 Sep; 34():50-61. PubMed ID: 34390998
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the
    Contrò G; Micalizzi A; Giangiobbe S; Caraffi SG; Zuntini R; Rosato S; Pollazzon M; Terracciano A; Napoli M; Rizzi S; Salerno GG; Radio FC; Niceta M; Parrini E; Fusco C; Gargano G; Guerrini R; Tartaglia M; Novelli A; Zuffardi O; Garavelli L
    Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440382
    [TBL] [Abstract][Full Text] [Related]  

  • 15. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
    Starr MC; Chang IJ; Finn LS; Sun A; Larson AA; Goebel J; Hanevold C; Thies J; Van Hove JLK; Hingorani SR; Lam C
    Pediatr Nephrol; 2018 Jul; 33(7):1257-1261. PubMed ID: 29637272
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.
    Mitsui J; Matsukawa T; Yasuda T; Ishiura H; Tsuji S
    JAMA Neurol; 2016 Aug; 73(8):977-80. PubMed ID: 27356913
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.
    Darouich S; Amraoui J; Amraoui N
    J Clin Ultrasound; 2020 May; 48(4):235-239. PubMed ID: 31859376
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
    Bahi-Buisson N; Boddaert N; Saillour Y; Souville I; Poirier K; Léger PL; Castelnau L; Plouin P; Carion N; Beldjord C; Chelly J
    Rev Neurol (Paris); 2008 Dec; 164(12):995-1009. PubMed ID: 18808783
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T; Punetha J; Akalin I; Pehlivan D; Dawidziuk M; Coban Akdemir Z; Yilmaz S; Aslan E; Hunter JV; Hijazi H; Grochowski CM; Jhangiani SN; Karaca E; Fatih JM; Iwanowski P; Gambin T; Wlasienko P; Goszczanska-Ciuchta A; Bekiesinska-Figatowska M; Hosseini M; Arzhangi S; Najmabadi H; Rosenfeld JA; Du H; Marafi D; Blaser S; Teitelbaum R; Silver R; ; Posey JE; Ropers HH; Gibbs RA; Wiszniewski W; Lupski JR; Chitayat D; Kahrizi K; Gawlinski P
    Am J Hum Genet; 2019 Nov; 105(5):1005-1015. PubMed ID: 31630790
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.
    Liu M; Liu X; Wu J; Sha J; Zhai J; Zhang B
    Medicine (Baltimore); 2023 Feb; 102(7):e33014. PubMed ID: 36800618
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.