BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 24807585)

  • 1. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
    Pavone P; Briuglia S; Falsaperla R; Warm A; Pavone V; Bernardini L; Novelli A; Praticò AD; Salpietro V; Ruggieri M
    Am J Med Genet A; 2014 Jul; 164A(7):1734-43. PubMed ID: 24807585
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
    Salpietro V; Ruggieri M; Mankad K; Di Rosa G; Granata F; Loddo I; Moschella E; Calabro MP; Capalbo A; Bernardini L; Novelli A; Polizzi A; Seidler DG; Arrigo T; Briuglia S
    Am J Med Genet A; 2015 Sep; 167A(9):2042-51. PubMed ID: 25940952
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.
    Lagou M; Papoulidis I; Orru S; Papadopoulos V; Daskalakis G; Kontodiou M; Anastasakis E; Petersen MB; Kitsos G; Thomaidis L; Manolakos E
    Mol Cytogenet; 2014; 7(1):92. PubMed ID: 25506395
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.
    Balci S; Yuksel Konuk B; Atik F; Oguz AK; Ergun MA; Baltaci V; Kosyakova N; Liehr T
    Genet Couns; 2010; 21(3):317-24. PubMed ID: 20964123
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
    Silipigni R; Cattaneo E; Baccarin M; Fumagalli M; Bedeschi MF
    Eur J Med Genet; 2016 Jan; 59(1):39-42. PubMed ID: 26700408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
    Kehrer M; Schäferhoff K; Bonin M; Jauch A; Bevot A; Tzschach A
    Am J Med Genet A; 2015 Oct; 167A(10):2406-10. PubMed ID: 26061568
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.
    Tanteles GA; Dixit A; Smith N; Martin K; Suri M
    Clin Dysmorphol; 2011 Apr; 20(2):61-65. PubMed ID: 21383552
    [No Abstract]   [Full Text] [Related]  

  • 9. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
    Bartholdi D; Stray-Pedersen A; Azzarello-Burri S; Kibaek M; Kirchhoff M; Oneda B; Rødningen O; Schmitt-Mechelke T; Rauch A; Kjaergaard S
    Am J Med Genet A; 2014 May; 164A(5):1277-83. PubMed ID: 24664804
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
    Cirillo E; Romano R; Romano A; Giardino G; Durandy A; Nitsch L; Genesio R; Di Gregorio E; Cavalieri S; Abate G; Del Vecchio L; Brusco A; Pignata C
    Am J Med Genet A; 2012 Oct; 158A(10):2571-6. PubMed ID: 22903806
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
    Shoukier M; Wickert J; Schröder J; Bartels I; Auber B; Zoll B; Salinas-Riester G; Weise D; Brockmann K; Zirn B; Burfeind P
    Am J Med Genet A; 2012 Jan; 158A(1):229-35. PubMed ID: 22140031
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.
    Cakmak-Genc G; Karakas-Celik S; Dursun A; Piskin İE
    Gene; 2015 Sep; 568(2):211-4. PubMed ID: 25979671
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
    Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
    Yeşilyurt A; Dilli D; Oguz S; Dilmen U; Altug N; Candemir Z
    Genet Couns; 2011; 22(1):35-40. PubMed ID: 21614986
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.
    Posmyk R; Leśniewicz R; Gogiel M; Chorąży M; Bakunowicz-Łazarczyk A; Sielicka D; Vermeesch J; Nowakowska BA
    Am J Med Genet A; 2014 Apr; 164A(4):1056-61. PubMed ID: 24459047
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
    Michelson M; Ben-Sasson A; Vinkler C; Leshinsky-Silver E; Netzer I; Frumkin A; Kivity S; Lerman-Sagie T; Lev D
    Am J Med Genet A; 2012 Jun; 158A(6):1395-9. PubMed ID: 22585544
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
    Martínez-Frías ML; Ocejo-Vinyals JG; Arteaga R; Martínez-Fernández ML; Macdonald A; Pérez-Belmonte E; Bermejo-Sánchez E; Martínez S
    Am J Med Genet A; 2014 Mar; 164A(3):639-47. PubMed ID: 24357464
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
    Chatron N; Haddad V; Andrieux J; Désir J; Boute O; Dieux A; Baumann C; Drunat S; Gérard M; Bonnet C; Leheup B; Till M; Rossi M; Flori E; Alembik Y; Stewart H; McParland J; Bernardini L; Castelluccio P; Roos L; Tümer Z; Fagan K; Hackett A; Bain N; van Haeringen A; Ruivenkamp C; Benzacken B; Sanlaville D; Edery P; Aboura A; Schluth-Bolard C
    Am J Med Genet A; 2015 May; 167A(5):1008-17. PubMed ID: 25728055
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
    Del Refugio Rivera-Vega M; Gómez-Del Angel LA; Valdes-Miranda JM; Pérez-Cabrera A; Gonzalez-Huerta LM; Toral-López J; Cuevas-Covarrubias S
    Cytogenet Genome Res; 2015; 145(1):1-5. PubMed ID: 25870946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
    Hucthagowder V; Liu TC; Paciorkowski AR; Thio LL; Keller MS; Anderson CD; Herman T; Dehner LP; Grange DK; Kulkarni S
    Eur J Med Genet; 2012; 55(8-9):485-9. PubMed ID: 22579565
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.