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 *

116 related articles for article (PubMed ID: 36705174)

  • 1. Lissencephaly with Congenital Hypothyroidism: A Case Report.
    Sahani SK; Pathak A; Nepali B; Rai N
    JNMA J Nepal Med Assoc; 2022 Nov; 60(255):978-981. PubMed ID: 36705174
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lissencephaly: Expanded imaging and clinical classification.
    Di Donato N; Chiari S; Mirzaa GM; Aldinger K; Parrini E; Olds C; Barkovich AJ; Guerrini R; Dobyns WB
    Am J Med Genet A; 2017 Jun; 173(6):1473-1488. PubMed ID: 28440899
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
    Jang MA; Woo HI; Kim JW; Lee J; Ki CS
    Pediatr Neurol; 2013 May; 48(5):411-4. PubMed ID: 23583063
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lissencephaly: Update on diagnostics and clinical management.
    Koenig M; Dobyns WB; Di Donato N
    Eur J Paediatr Neurol; 2021 Nov; 35():147-152. PubMed ID: 34731701
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lissencephaly presenting with congenital hypothyroidism.
    Kumar S; Suthar R; Panigrahi I; Marwaha RK
    J Pediatr Endocrinol Metab; 2013; 26(11-12):1175-7. PubMed ID: 23751382
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
    Di Donato N; Timms AE; Aldinger KA; Mirzaa GM; Bennett JT; Collins S; Olds C; Mei D; Chiari S; Carvill G; Myers CT; Rivière JB; Zaki MS; ; Gleeson JG; Rump A; Conti V; Parrini E; Ross ME; Ledbetter DH; Guerrini R; Dobyns WB
    Genet Med; 2018 Nov; 20(11):1354-1364. PubMed ID: 29671837
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
    Mineyko A; Doja A; Hurteau J; Dobyns WB; Das S; Boycott KM
    J Child Neurol; 2010 Jun; 25(6):738-41. PubMed ID: 19808989
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
    Mokánszki A; Körhegyi I; Szabó N; Bereg E; Gergev G; Balogh E; Bessenyei B; Sümegi A; Morris-Rosendahl DJ; Sztriha L; Oláh E
    J Child Neurol; 2012 Dec; 27(12):1534-40. PubMed ID: 22408144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
    Lee S; Chen DY; Zaki MS; Maroofian R; Houlden H; Di Donato N; Abdin D; Morsy H; Mirzaa GM; Dobyns WB; McEvoy-Venneri J; Stanley V; James KN; Mancini GMS; Schot R; Kalayci T; Altunoglu U; Karimiani EG; Brick L; Kozenko M; Jamshidi Y; Manzini MC; Beiraghi Toosi M; Gleeson JG
    Am J Hum Genet; 2019 Oct; 105(4):844-853. PubMed ID: 31585108
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus.
    Lin CY; Chen CP; Liau CL; Su PH; Tsao TF; Chang TY; Wang W
    Taiwan J Obstet Gynecol; 2009 Dec; 48(4):408-11. PubMed ID: 20045764
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
    Leger PL; Souville I; Boddaert N; Elie C; Pinard JM; Plouin P; Moutard ML; des Portes V; Van Esch H; Joriot S; Renard JL; Chelly J; Francis F; Beldjord C; Bahi-Buisson N
    Neurogenetics; 2008 Oct; 9(4):277-85. PubMed ID: 18685874
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
    Delatycki MB; Leventer RJ
    Eur J Hum Genet; 2009 Jun; 17(6):701-2. PubMed ID: 19050725
    [No Abstract]   [Full Text] [Related]  

  • 14. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
    Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
    Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
    Bahi-Buisson N; Souville I; Fourniol FJ; Toussaint A; Moores CA; Houdusse A; Lemaitre JY; Poirier K; Khalaf-Nazzal R; Hully M; Leger PL; Elie C; Boddaert N; Beldjord C; Chelly J; Francis F;
    Brain; 2013 Jan; 136(Pt 1):223-44. PubMed ID: 23365099
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
    Dobyns WB
    Epilepsia; 2010 Feb; 51 Suppl 1():5-9. PubMed ID: 20331703
    [No Abstract]   [Full Text] [Related]  

  • 17. Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
    Hadj Amor M; Dimassi S; Taj A; Slimani W; Hannachi H; Mlika A; Ben Helel K; Saad A; Mougou-Zerelli S
    BMC Med Genet; 2020 Feb; 21(1):26. PubMed ID: 32028920
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recurrent KIF2A mutations are responsible for classic lissencephaly.
    Cavallin M; Bijlsma EK; El Morjani A; Moutton S; Peeters EA; Maillard C; Pedespan JM; Guerrot AM; Drouin-Garaud V; Coubes C; Genevieve D; Bole-Feysot C; Fourrage C; Steffann J; Bahi-Buisson N
    Neurogenetics; 2017 Apr; 18(2):73-79. PubMed ID: 27747449
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
    Tsai MH; Kuo PW; Myers CT; Li SW; Lin WC; Fu TY; Chang HY; Mefford HC; Chang YC; Tsai JW
    Eur J Paediatr Neurol; 2016 Sep; 20(5):788-94. PubMed ID: 27292316
    [TBL] [Abstract][Full Text] [Related]  

  • 20. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
    Saillour Y; Carion N; Quelin C; Leger PL; Boddaert N; Elie C; Toutain A; Mercier S; Barthez MA; Milh M; Joriot S; des Portes V; Philip N; Broglin D; Roubertie A; Pitelet G; Moutard ML; Pinard JM; Cances C; Kaminska A; Chelly J; Beldjord C; Bahi-Buisson N
    Arch Neurol; 2009 Aug; 66(8):1007-15. PubMed ID: 19667223
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.