339 related articles for article (PubMed ID: 22317977)
1. 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]
2. 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]
3. 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]
4. Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications.
Yue F; Yang X; Jiang Y; Li S; Liu R; Zhang H
Front Med (Lausanne); 2023; 10():1207891. PubMed ID: 37692779
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.
Houeijeh A; Andrieux J; Saugier-Veber P; David A; Goldenberg A; Bonneau D; Fouassier M; Journel H; Martinovic J; Escande F; Devisme L; Bisiaux S; Chaffiotte C; Baux M; Kerckaert JP; Holder-Espinasse M; Manouvrier-Hanu S
Eur J Med Genet; 2011; 54(5):e471-7. PubMed ID: 21635976
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Klopocki E; Schulze H; Strauss G; Ott CE; Hall J; Trotier F; Fleischhauer S; Greenhalgh L; Newbury-Ecob RA; Neumann LM; Habenicht R; König R; Seemanova E; Megarbane A; Ropers HH; Ullmann R; Horn D; Mundlos S
Am J Hum Genet; 2007 Feb; 80(2):232-40. PubMed ID: 17236129
[TBL] [Abstract][Full Text] [Related]
13. Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Uhrig S; Schlembach D; Waldispuehl-Geigl J; Schaffer W; Geigl J; Klopocki E; Mundlos S; Speicher MR
Am J Hum Genet; 2007 Oct; 81(4):866-8. PubMed ID: 17847015
[No Abstract] [Full Text] [Related]
14. Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.
Guastadisegni MC; Roberto R; L'Abbate A; Palumbo O; Carella M; Giordani L; Cecinati V; Giordano P; Storlazzi CT
Eur J Med Genet; 2012 Feb; 55(2):120-3. PubMed ID: 22201559
[TBL] [Abstract][Full Text] [Related]
15. Thrombocytopenia-absent radius syndrome.
Toriello HV
Semin Thromb Hemost; 2011 Sep; 37(6):707-12. PubMed ID: 22102274
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N; Berg JS; Scaglia F; Belmont J; Bacino CA; Sahoo T; Lalani SR; Graham B; Lee B; Shinawi M; Shen J; Kang SH; Pursley A; Lotze T; Kennedy G; Lansky-Shafer S; Weaver C; Roeder ER; Grebe TA; Arnold GL; Hutchison T; Reimschisel T; Amato S; Geragthy MT; Innis JW; Obersztyn E; Nowakowska B; Rosengren SS; Bader PI; Grange DK; Naqvi S; Garnica AD; Bernes SM; Fong CT; Summers A; Walters WD; Lupski JR; Stankiewicz P; Cheung SW; Patel A
Nat Genet; 2008 Dec; 40(12):1466-71. PubMed ID: 19029900
[TBL] [Abstract][Full Text] [Related]
18. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
[TBL] [Abstract][Full Text] [Related]
19. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Bi W; Cheung SW; Breman AM; Bacino CA
Am J Med Genet A; 2016 Oct; 170(10):2540-50. PubMed ID: 27287194
[TBL] [Abstract][Full Text] [Related]
20. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S; Escande F; Jourdain AS; Smol T; Brunelle P; Duhamel C; Alembik Y; Attié-Bitach T; Baujat G; Bazin A; Bonnière M; Carassou P; Carles D; Devisme L; Goizet C; Goldenberg A; Grotto S; Guichet A; Jouk PS; Loeuillet L; Mechler C; Michot C; Pelluard F; Putoux A; Whalen S; Ghoumid J; Manouvrier-Hanu S; Petit F
Hum Mutat; 2020 Jul; 41(7):1220-1225. PubMed ID: 32227665
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
