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 *

156 related articles for article (PubMed ID: 39232803)

  • 1. Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
    Elsayed LEO; AlHarbi NA; Alqarni AM; Eltayeb HHE; Mostafa NMM; Abdulrahim MM; Zaid HIB; Alanzi LM; Ababtain SA; Aldulaijan K; Aloyouni SY; Othman MAK; Alkheilewi MA; Binduraihem AM; Alrukban HA; Ahmed HY; AlRadini FA; Alahdal HM; Mushiba AM; Alzaher OA
    Hum Genomics; 2024 Sep; 18(1):95. PubMed ID: 39232803
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
    Loviglio MN; Arbogast T; Jønch AE; Collins SC; Popadin K; Bonnet CS; Giannuzzi G; Maillard AM; Jacquemont S; ; Yalcin B; Katsanis N; Golzio C; Reymond A
    Am J Hum Genet; 2017 Oct; 101(4):564-577. PubMed ID: 28965845
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
    Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
    J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.
    Fetit R; Price DJ; Lawrie SM; Johnstone M
    Psychiatr Genet; 2020 Oct; 30(5):136-140. PubMed ID: 32732550
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.
    Szelest M; Stefaniak M; Ręka G; Jaszczuk I; Lejman M
    BMC Med Genomics; 2021 Mar; 14(1):76. PubMed ID: 33691695
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [16p11.2 Microdeletion: first report in Argentina].
    Tardivo A; Masotto B; Espeche L; Solari AP; Nevado J; Rozental S
    Arch Argent Pediatr; 2017 Dec; 115(6):e449-e453. PubMed ID: 29087133
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 16p11.2 microdeletion syndrome: a case report.
    Dell'Edera D; Dilucca C; Allegretti A; Simone F; Lupo MG; Liccese C; Davanzo R
    J Med Case Rep; 2018 Apr; 12(1):90. PubMed ID: 29609622
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Motor difficulties in 16p11.2 copy number variation.
    Jutla A; Harvey L; Veenstra-VanderWeele J; Chung WK
    Autism Res; 2024 May; 17(5):906-916. PubMed ID: 38660979
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.
    Mitrakos AK; Kosma K; Makrythanasis P; Tzetis M
    Genes (Basel); 2024 Aug; 15(8):. PubMed ID: 39202413
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and Genetic Study of Three Inherited Microdeletions of Chromosome 16p11.2.
    Liu F; Liu R; Yu C; Duan J; Hu Y; Luo L
    Altern Ther Health Med; 2024 Mar; 30(3):190-192. PubMed ID: 37856819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.
    Xie H; Liu F; Zhang Y; Chen Q; Shangguan S; Gao Z; Wu N; Wang J; Cui X; Wang L; Chen X
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1485. PubMed ID: 32870608
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
    Steinman KJ; Spence SJ; Ramocki MB; Proud MB; Kessler SK; Marco EJ; Green Snyder L; D'Angelo D; Chen Q; Chung WK; Sherr EH;
    Am J Med Genet A; 2016 Nov; 170(11):2943-2955. PubMed ID: 27410714
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
    Tabet AC; Pilorge M; Delorme R; Amsellem F; Pinard JM; Leboyer M; Verloes A; Benzacken B; Betancur C
    Eur J Hum Genet; 2012 May; 20(5):540-6. PubMed ID: 22234155
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
    Pebrel-Richard C; Debost-Legrand A; Eymard-Pierre E; Greze V; Kemeny S; Gay-Bellile M; Gouas L; Tchirkov A; Vago P; Goumy C; Francannet C
    Eur J Hum Genet; 2014 Mar; 22(3):369-73. PubMed ID: 23860047
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
    Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [A girl with 16p11.2 deletion syndrome].
    Kleinendorst L; Sno M; van Haelst MM
    Ned Tijdschr Geneeskd; 2019 Mar; 163():. PubMed ID: 30945833
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
    Barber JC; Hall V; Maloney VK; Huang S; Roberts AM; Brady AF; Foulds N; Bewes B; Volleth M; Liehr T; Mehnert K; Bateman M; White H
    Eur J Hum Genet; 2013 Feb; 21(2):182-9. PubMed ID: 22828807
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions.
    Lin S; Shi S; Zhou Y; Ji Y; Huang P; Wu J; Chen B; Luo Y
    Prenat Diagn; 2018 May; 38(6):381-389. PubMed ID: 29514395
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Language characterization in 16p11.2 deletion and duplication syndromes.
    Kim SH; Green-Snyder L; Lord C; Bishop S; Steinman KJ; Bernier R; Hanson E; Goin-Kochel RP; Chung WK
    Am J Med Genet B Neuropsychiatr Genet; 2020 Sep; 183(6):380-391. PubMed ID: 32652891
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.
    Liu L; Wang J; Liu X; Wang J; Chen L; Zhu H; Mai J; Hu T; Liu S
    Clin Chim Acta; 2024 Jan; 552():117671. PubMed ID: 37984529
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.