BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 28213671)

  • 1. Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
    Berger SI; Ciccone C; Simon KL; Malicdan MC; Vilboux T; Billington C; Fischer R; Introne WJ; Gropman A; Blancato JK; Mullikin JC; ; Gahl WA; Huizing M; Smith ACM
    Hum Genet; 2017 Apr; 136(4):409-420. PubMed ID: 28213671
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
    Vilboux T; Ciccone C; Blancato JK; Cox GF; Deshpande C; Introne WJ; Gahl WA; Smith AC; Huizing M
    PLoS One; 2011; 6(8):e22861. PubMed ID: 21857958
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
    Loviglio MN; Beck CR; White JJ; Leleu M; Harel T; Guex N; Niknejad A; Bi W; Chen ES; Crespo I; Yan J; Charng WL; Gu S; Fang P; Coban-Akdemir Z; Shaw CA; Jhangiani SN; Muzny DM; Gibbs RA; Rougemont J; Xenarios I; Lupski JR; Reymond A
    Genome Med; 2016 Nov; 8(1):105. PubMed ID: 27799067
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
    Yeetong P; Vilboux T; Ciccone C; Boulier K; Schnur RE; Gahl WA; Huizing M; Laje G; Smith AC
    Am J Med Genet A; 2016 Sep; 170(9):2383-8. PubMed ID: 27311559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic
    Linders CC; van Eeghen AM; Zinkstok JR; van den Boogaard MJ; Boot E
    Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628566
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.
    Yu R; Liu L; Chen C; Lin ZJ; Xu JM; Fan LL
    Gene; 2023 Jan; 851():147028. PubMed ID: 36334618
    [TBL] [Abstract][Full Text] [Related]  

  • 8. First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
    Acquaviva F; Sana ME; Della Monica M; Pinelli M; Postorivo D; Fontana P; Falco MT; Nardone AM; Lonardo F; Iascone M; Scarano G
    Am J Med Genet A; 2017 Jan; 173(1):231-238. PubMed ID: 27683195
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.
    Alaimo JT; Barton LV; Mullegama SV; Wills RD; Foster RH; Elsea SH
    Res Dev Disabil; 2015 Dec; 47():27-38. PubMed ID: 26323055
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
    Vieira GH; Rodriguez JD; Carmona-Mora P; Cao L; Gamba BF; Carvalho DR; de Rezende Duarte A; Santos SR; de Souza DH; DuPont BR; Walz K; Moretti-Ferreira D; Srivastava AK
    Eur J Hum Genet; 2012 Feb; 20(2):148-54. PubMed ID: 21897445
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
    Yuan B; Neira J; Gu S; Harel T; Liu P; Briceño I; Elsea SH; Gómez A; Potocki L; Lupski JR
    Hum Genet; 2016 Oct; 135(10):1161-74. PubMed ID: 27386852
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
    Rinaldi B; Villa R; Sironi A; Garavelli L; Finelli P; Bedeschi MF
    Genes (Basel); 2022 Feb; 13(2):. PubMed ID: 35205380
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
    Elsea SH; Williams SR
    Expert Rev Mol Med; 2011 Apr; 13():e14. PubMed ID: 21545756
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
    Chen L; Jensik PJ; Alaimo JT; Walkiewicz M; Berger S; Roeder E; Faqeih EA; Bernstein JA; Smith ACM; Mullegama SV; Saffen DW; Elsea SH
    Hum Mutat; 2017 Dec; 38(12):1774-1785. PubMed ID: 28940898
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
    Onesimo R; Delogu AB; Blandino R; Leoni C; Rosati J; Zollino M; Zampino G
    Am J Med Genet A; 2022 Jul; 188(7):2184-2186. PubMed ID: 35373511
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].
    Stembalska A; Jakubiak A; Śmigiel R
    Med Wieku Rozwoj; 2012; 16(2):138-43. PubMed ID: 22971658
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.
    Chen L; Tao Y; Song F; Yuan X; Wang J; Saffen D
    Sci Rep; 2016 Jan; 6():19010. PubMed ID: 26743651
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
    Korteling D; Musch JLI; Zinkstok JR; Boot E
    Am J Med Genet B Neuropsychiatr Genet; 2024 Mar; 195(2):e32956. PubMed ID: 37584268
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
    Sironi A; Bestetti I; Masciadri M; Tumiatti F; Crippa M; Pantaleoni C; Russo S; D'Arrigo S; Milani D; Larizza L; Finelli P
    Eur J Hum Genet; 2022 Nov; 30(11):1233-1238. PubMed ID: 35821519
    [TBL] [Abstract][Full Text] [Related]  

  • 20. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
    Bi W; Saifi GM; Girirajan S; Shi X; Szomju B; Firth H; Magenis RE; Potocki L; Elsea SH; Lupski JR
    Am J Med Genet A; 2006 Nov; 140(22):2454-63. PubMed ID: 17041942
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.