BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 37148088)

  • 1.
    Asemota B; Chourasia N
    Neurol India; 2023; 71(2):388-389. PubMed ID: 37148088
    [No Abstract]   [Full Text] [Related]  

  • 2. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
    Schiff M; Delahaye A; Andrieux J; Sanlaville D; Vincent-Delorme C; Aboura A; Benzacken B; Bouquillon S; Elmaleh-Berges M; Labalme A; Passemard S; Perrin L; Manouvrier-Hanu S; Edery P; Verloes A; Drunat S
    Eur J Med Genet; 2010; 53(5):303-8. PubMed ID: 20599530
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
    Duan F; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):71-73. PubMed ID: 33423263
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
    Nagamani SC; Zhang F; Shchelochkov OA; Bi W; Ou Z; Scaglia F; Probst FJ; Shinawi M; Eng C; Hunter JV; Sparagana S; Lagoe E; Fong CT; Pearson M; Doco-Fenzy M; Landais E; Mozelle M; Chinault AC; Patel A; Bacino CA; Sahoo T; Kang SH; Cheung SW; Lupski JR; Stankiewicz P
    J Med Genet; 2009 Dec; 46(12):825-33. PubMed ID: 19584063
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Classical (type I) lissencephaly and Miller-Dieker syndrome.
    Matarese CA; Renaud DL
    Pediatr Neurol; 2009 Apr; 40(4):324-5. PubMed ID: 19302951
    [No Abstract]   [Full Text] [Related]  

  • 8. [Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome].
    Laurito S; Goldschmidt E; Marquez M; Roque M
    Rev Neurol; 2011 Feb; 52(3):189-91. PubMed ID: 21287497
    [No Abstract]   [Full Text] [Related]  

  • 9. LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
    Herbst SM; Proepper CR; Geis T; Borggraefe I; Hahn A; Debus O; Haeussler M; von Gersdorff G; Kurlemann G; Ensslen M; Beaud N; Budde J; Gilbert M; Heiming R; Morgner R; Philippi H; Ross S; Strobl-Wildemann G; Muelleder K; Vosschulte P; Morris-Rosendahl DJ; Schuierer G; Hehr U
    Brain Dev; 2016 Apr; 38(4):399-406. PubMed ID: 26494205
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lissencephaly type I.
    Leventer R
    Handb Clin Neurol; 2008; 87():205-18. PubMed ID: 18809027
    [No Abstract]   [Full Text] [Related]  

  • 11. Genomic copy number variations at 17p13.3 and epileptogenesis.
    Shimojima K; Sugiura C; Takahashi H; Ikegami M; Takahashi Y; Ohno K; Matsuo M; Saito K; Yamamoto T
    Epilepsy Res; 2010 May; 89(2-3):303-9. PubMed ID: 20227246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay.
    Chen CP; Chang SY; Lin SP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Wang W
    Taiwan J Obstet Gynecol; 2018 Oct; 57(5):765-768. PubMed ID: 30342670
    [No Abstract]   [Full Text] [Related]  

  • 13. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
    Du X; An Y; Yu L; Liu R; Qin Y; Guo X; Sun D; Zhou S; Wu B; Jiang YH; Wang Y
    BMC Med Genet; 2014 May; 15():62. PubMed ID: 24885232
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
    Haverfield EV; Whited AJ; Petras KS; Dobyns WB; Das S
    Eur J Hum Genet; 2009 Jul; 17(7):911-8. PubMed ID: 19050731
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
    Capra V; Mirabelli-Badenier M; Stagnaro M; Rossi A; Tassano E; Gimelli S; Gimelli G
    BMC Med Genet; 2012 Oct; 13():93. PubMed ID: 23035971
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more.
    Reiner O; Sapoznik S; Sapir T
    Neuromolecular Med; 2006; 8(4):547-65. PubMed ID: 17028375
    [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 7.