BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 26197979)

  • 21. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
    Weiss K; Wigby K; Fannemel M; Henderson LB; Beck N; Ghali N; Study DDD; Anderlid BM; Lundin J; Hamosh A; Jones MC; Ghedia S; Muenke M; Kruszka P
    Eur J Hum Genet; 2017 Aug; 25(8):946-951. PubMed ID: 28513610
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Agenesis of the corpus callosum: symptoms consistent with developmental disability in two siblings.
    Cavalari RN; Donovick PJ
    Neurocase; 2015 Feb; 21(1):95-102. PubMed ID: 24417213
    [TBL] [Abstract][Full Text] [Related]  

  • 23. De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
    Terrone G; Voisin N; Abdullah Alfaiz A; Cappuccio G; Vitiello G; Guex N; D'Amico A; James Barkovich A; Brunetti-Pierri N; Del Giudice E; Reymond A
    Eur J Hum Genet; 2016 Aug; 24(9):1359-62. PubMed ID: 26860062
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
    Traversa A; Marchionni E; Giovannetti A; Genovesi ML; Panzironi N; Margiotti K; Napoli G; Piceci Sparascio F; De Luca A; Petrizzelli F; Carella M; Cardona F; Bernardo S; Manganaro L; Mazza T; Pizzuti A; Caputo V
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1336. PubMed ID: 32519823
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
    Guen VJ; Edvardson S; Fraenkel ND; Fattal-Valevski A; Jalas C; Anteby I; Shaag A; Dor T; Gillis D; Kerem E; Lees JA; Colas P; Elpeleg O
    Am J Med Genet A; 2018 Jan; 176(1):92-98. PubMed ID: 29130579
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.
    Salvi A; Giacopuzzi E; Bardellini E; Amadori F; Ferrari L; De Petro G; Borsani G; Majorana A
    Int J Mol Med; 2016 Nov; 38(5):1338-1348. PubMed ID: 27665865
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
    Bassuk AG; Sherr EH
    J Neurogenet; 2015; 29(4):174-7. PubMed ID: 26727662
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Whole-Exome Sequencing Revealed Mutations of
    Jiang Y; Qian YQ; Yang MM; Zhan QT; Chen Y; Xi FF; Sagnelli M; Dong MY; Zhao BH; Luo Q
    Front Genet; 2019; 10():1201. PubMed ID: 31824579
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
    Micheal S; Siddiqui SN; Zafar SN; Venselaar H; Qamar R; Khan MI; den Hollander AI
    Neurogenetics; 2016 Jan; 17(1):17-23. PubMed ID: 26489929
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
    Li MH; Arndt K; Das S; Weiss EM; Wu Y; Gwal K; Shekdar KV; Zackai EH
    Am J Med Genet A; 2015 Jun; 167(6):1414-7. PubMed ID: 25899944
    [No Abstract]   [Full Text] [Related]  

  • 31. Loss-of-function variants in
    Heide S; Argilli E; Valence S; Boutaud L; Roux N; Mignot C; Nava C; Keren B; Giraudat K; Faudet A; Gerasimenko A; Garel C; Blondiaux E; Rastetter A; Grevent D; Le C; Mackenzie L; Richards L; Attié-Bitach T; Depienne C; Sherr E; Héron D
    J Med Genet; 2024 Feb; 61(3):244-249. PubMed ID: 37857482
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
    Marsh AP; Heron D; Edwards TJ; Quartier A; Galea C; Nava C; Rastetter A; Moutard ML; Anderson V; Bitoun P; Bunt J; Faudet A; Garel C; Gillies G; Gobius I; Guegan J; Heide S; Keren B; Lesne F; Lukic V; Mandelstam SA; McGillivray G; McIlroy A; Méneret A; Mignot C; Morcom LR; Odent S; Paolino A; Pope K; Riant F; Robinson GA; Spencer-Smith M; Srour M; Stephenson SE; Tankard R; Trouillard O; Welniarz Q; Wood A; Brice A; Rouleau G; Attié-Bitach T; Delatycki MB; Mandel JL; Amor DJ; Roze E; Piton A; Bahlo M; Billette de Villemeur T; Sherr EH; Leventer RJ; Richards LJ; Lockhart PJ; Depienne C
    Nat Genet; 2017 Apr; 49(4):511-514. PubMed ID: 28250454
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.
    Waldrop MA; Gumienny F; Boue D; de Los Reyes E; Shell R; Weiss RB; Flanigan KM
    Am J Med Genet A; 2018 May; 176(5):1207-1211. PubMed ID: 29681093
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
    Edvardson S; Porcelli V; Jalas C; Soiferman D; Kellner Y; Shaag A; Korman SH; Pierri CL; Scarcia P; Fraenkel ND; Segel R; Schechter A; Frumkin A; Pines O; Saada A; Palmieri L; Elpeleg O
    J Med Genet; 2013 Apr; 50(4):240-5. PubMed ID: 23393310
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
    Murdock DR; Clark GD; Bainbridge MN; Newsham I; Wu YQ; Muzny DM; Cheung SW; Gibbs RA; Ramocki MB
    Am J Med Genet A; 2011 Sep; 155A(9):2071-7. PubMed ID: 21834044
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
    Salin-Cantegrel A; Rivière JB; Shekarabi M; Rasheed S; Dacal S; Laganière J; Gaudet R; Rochefort D; Lesca G; Gaspar C; Dion PA; Lapointe JY; Rouleau GA
    J Biol Chem; 2011 Aug; 286(32):28456-65. PubMed ID: 21628467
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
    Takagi M; Sasaki G; Mitsui T; Honda M; Tanaka Y; Hasegawa T
    Eur J Med Genet; 2013 Sep; 56(9):526-8. PubMed ID: 23895774
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Postnatally diagnosed agenesis of corpus callosum in fetuses.
    Kitova TT; Kitov B; Milkov D; Gaigi S
    Fetal Pediatr Pathol; 2014 Aug; 33(4):239-43. PubMed ID: 24833489
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
    Khalifa M; Naffaa L
    Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Truncated Cables1 causes agenesis of the corpus callosum in mice.
    Mizuno S; Tra DT; Mizobuchi A; Iseki H; Mizuno-Iijima S; Kim JD; Ishida J; Matsuda Y; Kunita S; Fukamizu A; Sugiyama F; Yagami K
    Lab Invest; 2014 Mar; 94(3):321-30. PubMed ID: 24336072
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.