BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 21344629)

  • 21. Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
    Lengyel A; Pinti É; Pikó H; Jávorszky E; David D; Tihanyi M; Gönczi É; Kiss E; Tóth Z; Tory K; Fekete G; Haltrich I
    Eur J Med Genet; 2020 Oct; 63(10):104027. PubMed ID: 32758661
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.
    Brisset S; Capri Y; Briand-Suleau A; Tosca L; Gras D; Fauret-Amsellem AL; Pineau D; Saada J; Ortonne V; Verloes A; Goossens M; Tachdjian G; Métay C
    Eur J Med Genet; 2015 Sep; 58(9):497-501. PubMed ID: 26162704
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.
    Balasubramanian M; Smith K; Mordekar SR; Parker MJ
    Eur J Med Genet; 2011; 54(3):314-8. PubMed ID: 21315189
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
    la Cour Sibbesen E; Jespersgaard C; Alosi D; Bisgaard AM; Tümer Z
    Am J Med Genet A; 2013 Jun; 161A(6):1447-52. PubMed ID: 23633410
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.
    Gallant NM; Baldwin E; Salamon N; Dipple KM; Quintero-Rivera F
    Am J Med Genet A; 2011 Nov; 155A(11):2871-8. PubMed ID: 21994138
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
    Nimmakayalu M; Noble N; Horton VK; Willing M; Copeland S; Sheffield V; Nagy PL; Wassink T; Patil S; Shchelochkov OA
    Am J Med Genet A; 2012 Nov; 158A(11):2767-74. PubMed ID: 23023937
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
    Petek E; Windpassinger C; Simma B; Mueller T; Wagner K; Kroisel PM
    J Hum Genet; 2003; 48(6):283-287. PubMed ID: 12836054
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
    Lebedev IN; Nazarenko LP; Skryabin NA; Babushkina NP; Kashevarova AA
    Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
    Sahoo T; Theisen A; Rosenfeld JA; Lamb AN; Ravnan JB; Schultz RA; Torchia BS; Neill N; Casci I; Bejjani BA; Shaffer LG
    Genet Med; 2011 Oct; 13(10):868-80. PubMed ID: 21792059
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
    Mucha BE; Banka S; Ajeawung NF; Molidperee S; Chen GG; Koenig MK; Adejumo RB; Till M; Harbord M; Perrier R; Lemyre E; Boucher RM; Skotko BG; Waxler JL; Thomas MA; Hodge JC; Gecz J; Nicholl J; McGregor L; Linden T; Sisodiya SM; Sanlaville D; Cheung SW; Ernst C; Campeau PM
    Genet Med; 2019 May; 21(5):1058-1064. PubMed ID: 30245510
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study.
    Smith AE; Jnah A; Newberry D
    Neonatal Netw; 2018 Sep; 37(5):303-309. PubMed ID: 30567812
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
    D'Arrigo S; Gavazzi F; Alfei E; Zuffardi O; Montomoli C; Corso B; Buzzi E; Sciacca FL; Bulgheroni S; Riva D; Pantaleoni C
    J Child Neurol; 2016 May; 31(6):691-9. PubMed ID: 26511719
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
    Karmous-Benailly H; Giuliano F; Massol C; Bloch C; De Ricaud D; Lambert JC; Perelman S
    Eur J Med Genet; 2006; 49(5):431-8. PubMed ID: 16497571
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.
    Fukai R; Hiraki Y; Nishimura G; Nakashima M; Tsurusaki Y; Saitsu H; Matsumoto N; Miyake N
    Am J Med Genet A; 2014 Apr; 164A(4):1021-8. PubMed ID: 24458657
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
    Gana S; Veggiotti P; Sciacca G; Fedeli C; Bersano A; Micieli G; Maghnie M; Ciccone R; Rossi E; Plunkett K; Bi W; Sutton VR; Zuffardi O
    Eur J Hum Genet; 2012 Aug; 20(8):852-6. PubMed ID: 22378287
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.
    Filges I; Röthlisberger B; Boesch N; Weber P; Wenzel F; Huber AR; Heinimann K; Miny P
    Am J Med Genet A; 2010 Apr; 152A(4):987-93. PubMed ID: 20358614
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth.
    George AM; Taylor J; Love DR
    Genet Mol Res; 2012 Sep; 11(3):3133-7. PubMed ID: 23007991
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.