BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

241 related articles for article (PubMed ID: 21744490)

  • 1. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
    Rosenfeld JA; Drautz JM; Clericuzio CL; Cushing T; Raskin S; Martin J; Tervo RC; Pitarque JA; Nowak DM; Karolak JA; Lamb AN; Schultz RA; Ballif BC; Bejjani BA; Gajecka M; Shaffer LG
    Am J Med Genet A; 2011 Aug; 155A(8):1906-16. PubMed ID: 21744490
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
    Aradhya S; Manning MA; Splendore A; Cherry AM
    Am J Med Genet A; 2007 Jul; 143A(13):1431-41. PubMed ID: 17568414
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
    Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
    J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
    Bachmann-Gagescu R; Mefford HC; Cowan C; Glew GM; Hing AV; Wallace S; Bader PI; Hamati A; Reitnauer PJ; Smith R; Stockton DW; Muhle H; Helbig I; Eichler EE; Ballif BC; Rosenfeld J; Tsuchiya KD
    Genet Med; 2010 Oct; 12(10):641-7. PubMed ID: 20808231
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
    Stankiewicz P; Kulkarni S; Dharmadhikari AV; Sampath S; Bhatt SS; Shaikh TH; Xia Z; Pursley AN; Cooper ML; Shinawi M; Paciorkowski AR; Grange DK; Noetzel MJ; Saunders S; Simons P; Summar M; Lee B; Scaglia F; Fellmann F; Martinet D; Beckmann JS; Asamoah A; Platky K; Sparks S; Martin AS; Madan-Khetarpal S; Hoover J; Medne L; Bonnemann CG; Moeschler JB; Vallee SE; Parikh S; Irwin P; Dalzell VP; Smith WE; Banks VC; Flannery DB; Lovell CM; Bellus GA; Golden-Grant K; Gorski JL; Kussmann JL; McGregor TL; Hamid R; Pfotenhauer J; Ballif BC; Shaw CA; Kang SH; Bacino CA; Patel A; Rosenfeld JA; Cheung SW; Shaffer LG
    Hum Mutat; 2012 Jan; 33(1):165-79. PubMed ID: 21948486
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
    Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG
    Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Mullegama SV; Rosenfeld JA; Orellana C; van Bon BW; Halbach S; Repnikova EA; Brick L; Li C; Dupuis L; Rosello M; Aradhya S; Stavropoulos DJ; Manickam K; Mitchell E; Hodge JC; Talkowski ME; Gusella JF; Keller K; Zonana J; Schwartz S; Pyatt RE; Waggoner DJ; Shaffer LG; Lin AE; de Vries BB; Mendoza-Londono R; Elsea SH
    Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
    Zahir F; Firth HV; Baross A; Delaney AD; Eydoux P; Gibson WT; Langlois S; Martin H; Willatt L; Marra MA; Friedman JM
    J Med Genet; 2007 Sep; 44(9):556-61. PubMed ID: 17545556
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
    Rosenfeld JA; Fox JE; Descartes M; Brewer F; Stroud T; Gorski JL; Upton SJ; Moeschler JB; Monteleone B; Neill NJ; Lamb AN; Ballif BC; Shaffer LG; Ravnan JB
    Am J Med Genet A; 2015 Feb; 167A(2):345-53. PubMed ID: 25756153
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.
    Kleffmann W; Zink AM; Lee JA; Senderek J; Mangold E; Moog U; Rappold GA; Wohlleber E; Engels H
    Mol Syndromol; 2012 Aug; 3(2):68-75. PubMed ID: 23326251
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
    J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
    Der Kaloustian VM; Russell L; Aradhya S; Richard G; Rosenblatt B; Melançon S
    Am J Med Genet A; 2011 Oct; 155A(10):2538-42. PubMed ID: 22043489
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
    Szabó A; Czakó M; Hadzsiev K; Duga B; Bánfai Z; Komlósi K; Melegh B
    Am J Med Genet A; 2018 Feb; 176(2):443-449. PubMed ID: 29226546
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
    Herriges JC; Arch EM; Burgio PA; Baldwin EE; LaGrave D; Lamb AN; Toydemir RM
    J Child Neurol; 2019 Feb; 34(2):86-93. PubMed ID: 30458662
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
    Jacquemont S; Reymond A; Zufferey F; Harewood L; Walters RG; Kutalik Z; Martinet D; Shen Y; Valsesia A; Beckmann ND; Thorleifsson G; Belfiore M; Bouquillon S; Campion D; de Leeuw N; de Vries BB; Esko T; Fernandez BA; Fernández-Aranda F; Fernández-Real JM; Gratacòs M; Guilmatre A; Hoyer J; Jarvelin MR; Kooy RF; Kurg A; Le Caignec C; Männik K; Platt OS; Sanlaville D; Van Haelst MM; Villatoro Gomez S; Walha F; Wu BL; Yu Y; Aboura A; Addor MC; Alembik Y; Antonarakis SE; Arveiler B; Barth M; Bednarek N; Béna F; Bergmann S; Beri M; Bernardini L; Blaumeiser B; Bonneau D; Bottani A; Boute O; Brunner HG; Cailley D; Callier P; Chiesa J; Chrast J; Coin L; Coutton C; Cuisset JM; Cuvellier JC; David A; de Freminville B; Delobel B; Delrue MA; Demeer B; Descamps D; Didelot G; Dieterich K; Disciglio V; Doco-Fenzy M; Drunat S; Duban-Bedu B; Dubourg C; El-Sayed Moustafa JS; Elliott P; Faas BH; Faivre L; Faudet A; Fellmann F; Ferrarini A; Fisher R; Flori E; Forer L; Gaillard D; Gerard M; Gieger C; Gimelli S; Gimelli G; Grabe HJ; Guichet A; Guillin O; Hartikainen AL; Heron D; Hippolyte L; Holder M; Homuth G; Isidor B; Jaillard S; Jaros Z; Jiménez-Murcia S; Helas GJ; Jonveaux P; Kaksonen S; Keren B; Kloss-Brandstätter A; Knoers NV; Koolen DA; Kroisel PM; Kronenberg F; Labalme A; Landais E; Lapi E; Layet V; Legallic S; Leheup B; Leube B; Lewis S; Lucas J; MacDermot KD; Magnusson P; Marshall C; Mathieu-Dramard M; McCarthy MI; Meitinger T; Mencarelli MA; Merla G; Moerman A; Mooser V; Morice-Picard F; Mucciolo M; Nauck M; Ndiaye NC; Nordgren A; Pasquier L; Petit F; Pfundt R; Plessis G; Rajcan-Separovic E; Ramelli GP; Rauch A; Ravazzolo R; Reis A; Renieri A; Richart C; Ried JS; Rieubland C; Roberts W; Roetzer KM; Rooryck C; Rossi M; Saemundsen E; Satre V; Schurmann C; Sigurdsson E; Stavropoulos DJ; Stefansson H; Tengström C; Thorsteinsdóttir U; Tinahones FJ; Touraine R; Vallée L; van Binsbergen E; Van der Aa N; Vincent-Delorme C; Visvikis-Siest S; Vollenweider P; Völzke H; Vulto-van Silfhout AT; Waeber G; Wallgren-Pettersson C; Witwicki RM; Zwolinksi S; Andrieux J; Estivill X; Gusella JF; Gustafsson O; Metspalu A; Scherer SW; Stefansson K; Blakemore AI; Beckmann JS; Froguel P
    Nature; 2011 Aug; 478(7367):97-102. PubMed ID: 21881559
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review.
    Vlaikou AM; Manolakos E; Noutsopoulos D; Markopoulos G; Liehr T; Vetro A; Ziegler M; Weise A; Kreskowski K; Papoulidis I; Thomaidis L; Syrrou M
    Cytogenet Genome Res; 2014; 142(4):227-38. PubMed ID: 24733116
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
    Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
    J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
    Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
    Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.