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 *

409 related articles for article (PubMed ID: 30773728)

  • 1. An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
    Ceylan AC; Sahin I; Erdem HB; Kayhan G; Simsek-Kiper PO; Utine GE; Percin F; Boduroglu K; Alikasifoglu M
    J Intellect Disabil Res; 2019 Jun; 63(6):548-557. PubMed ID: 30773728
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical characterization of individuals with the distal 1q21.1 microdeletion.
    Edwards SD; Schulze KV; Rosenfeld JA; Westerfield LE; Gerard A; Yuan B; Grigorenko EL; Posey JE; Bi W; Liu P
    Am J Med Genet A; 2021 May; 185(5):1388-1398. PubMed ID: 33576134
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
    Upadhyai P; Amiri EF; Guleria VS; Bielas SL; Girisha KM; Shukla A
    Clin Dysmorphol; 2020 Jul; 29(3):127-131. PubMed ID: 32459673
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
    Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
    J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
    Bottillo I; Castori M; De Bernardo C; Fabbri R; Grammatico B; Preziosi N; Scassellati GS; Silvestri E; Spagnuolo A; Laino L; Grammatico P
    BMC Res Notes; 2013 Sep; 6():376. PubMed ID: 24053387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
    Brodie SA; Rodriguez-Aulet JP; Giri N; Dai J; Steinberg M; Waterfall JJ; Roberson D; Ballew BJ; Zhou W; Anzick SL; Jiang Y; Wang Y; Zhu YJ; Meltzer PS; Boland J; Alter BP; Savage SA
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31836590
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
    Rosenfeld JA; Traylor RN; Schaefer GB; McPherson EW; Ballif BC; Klopocki E; Mundlos S; Shaffer LG; Aylsworth AS;
    Eur J Hum Genet; 2012 Jul; 20(7):754-61. PubMed ID: 22317977
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
    Albers CA; Newbury-Ecob R; Ouwehand WH; Ghevaert C
    Curr Opin Genet Dev; 2013 Jun; 23(3):316-23. PubMed ID: 23602329
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome].
    Luo X; Niu H; Zhou F; Li S; Li Z; Guo Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):480-485. PubMed ID: 38565516
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
    Busè M; Cuttaia HC; Palazzo D; Mazara MV; Lauricella SA; Malacarne M; Pierluigi M; Cavani S; Piccione M
    Ital J Pediatr; 2017 Jul; 43(1):61. PubMed ID: 28724436
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
    Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P
    Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
    Mefford HC; Sharp AJ; Baker C; Itsara A; Jiang Z; Buysse K; Huang S; Maloney VK; Crolla JA; Baralle D; Collins A; Mercer C; Norga K; de Ravel T; Devriendt K; Bongers EM; de Leeuw N; Reardon W; Gimelli S; Bena F; Hennekam RC; Male A; Gaunt L; Clayton-Smith J; Simonic I; Park SM; Mehta SG; Nik-Zainal S; Woods CG; Firth HV; Parkin G; Fichera M; Reitano S; Lo Giudice M; Li KE; Casuga I; Broomer A; Conrad B; Schwerzmann M; Räber L; Gallati S; Striano P; Coppola A; Tolmie JL; Tobias ES; Lilley C; Armengol L; Spysschaert Y; Verloo P; De Coene A; Goossens L; Mortier G; Speleman F; van Binsbergen E; Nelen MR; Hochstenbach R; Poot M; Gallagher L; Gill M; McClellan J; King MC; Regan R; Skinner C; Stevenson RE; Antonarakis SE; Chen C; Estivill X; Menten B; Gimelli G; Gribble S; Schwartz S; Sutcliffe JS; Walsh T; Knight SJ; Sebat J; Romano C; Schwartz CE; Veltman JA; de Vries BB; Vermeesch JR; Barber JC; Willatt L; Tassabehji M; Eichler EE
    N Engl J Med; 2008 Oct; 359(16):1685-99. PubMed ID: 18784092
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
    Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
    J Clin Endocrinol Metab; 2017 Aug; 102(8):3029-3039. PubMed ID: 28605459
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion.
    Shi SS; Lin SB; Cai DL; Wen WR; Li RM
    Taiwan J Obstet Gynecol; 2020 Jan; 59(1):123-126. PubMed ID: 32039779
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
    Van Dijck A; van der Werf IM; Reyniers E; Scheers S; Azage M; Siefkas K; Van der Aa N; Lacroix A; Rosenfeld J; Argiropoulos B; Davis K; Innes AM; Mefford HC; Mortier G; Meuwissen M; Kooy RF
    Eur J Med Genet; 2015 Oct; 58(10):503-8. PubMed ID: 26327614
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.
    Kaymakçalan H; Li P
    Indian J Pediatr; 2019 Nov; 86(11):1068. PubMed ID: 31270733
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
    Cadieux-Dion M; Safina NP; Engleman K; Saunders C; Repnikova E; Raje N; Canty K; Farrow E; Miller N; Zellmer L; Thiffault I
    BMC Med Genet; 2018 Mar; 19(1):41. PubMed ID: 29523099
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.
    Yoon J; Mao Y
    Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34071723
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.
    Ha K; Shen Y; Graves T; Kim CH; Kim HG
    Mol Cytogenet; 2016; 9():74. PubMed ID: 27708714
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.
    Velinov M; Dolzhanskaya N
    Eur J Med Genet; 2010; 53(4):213-6. PubMed ID: 20573555
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.