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 *

265 related articles for article (PubMed ID: 31515782)

  • 41. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
    Spena S; Milani D; Rusconi D; Negri G; Colapietro P; Elcioglu N; Bedeschi F; Pilotta A; Spaccini L; Ficcadenti A; Magnani C; Scarano G; Selicorni A; Larizza L; Gervasini C
    Clin Genet; 2015 Nov; 88(5):431-40. PubMed ID: 25388907
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.
    Calì F; Failla P; Chiavetta V; Ragalmuto A; Ruggeri G; Schinocca P; Schepis C; Romano V; Romano C
    Genet Mol Res; 2013 Jan; 12(3):2809-15. PubMed ID: 23315884
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
    Tang H; Guo J; Linpeng S; Wu L
    Orphanet J Rare Dis; 2019 Feb; 14(1):45. PubMed ID: 30770747
    [TBL] [Abstract][Full Text] [Related]  

  • 44. [Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].
    Yang SH; Liu HR; Li JY; Zhang Y; Liu ZQ; Wang L; Chen XL; Shangguan SF
    Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):351-356. PubMed ID: 38527506
    [No Abstract]   [Full Text] [Related]  

  • 45. De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
    Huang X; Rui X; Zhang S; Qi X; Rong W; Sheng X
    BMC Med Genomics; 2023 Apr; 16(1):84. PubMed ID: 37085840
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
    Negri G; Milani D; Colapietro P; Forzano F; Della Monica M; Rusconi D; Consonni L; Caffi LG; Finelli P; Scarano G; Magnani C; Selicorni A; Spena S; Larizza L; Gervasini C
    Clin Genet; 2015 Feb; 87(2):148-54. PubMed ID: 24476420
    [TBL] [Abstract][Full Text] [Related]  

  • 47. [Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome].
    Peng J; Yang B; Wang H; Zhang Z; Cui F; Li H; Zhao Y; Liu L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug; 41(8):973-976. PubMed ID: 39097282
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function.
    Kovela RK; Qureshi MI; Manakandathil A; Sinha MK; Dinesh N; Harjpal P
    Pan Afr Med J; 2021; 40():85. PubMed ID: 34909074
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
    Bartsch O; Rasi S; Delicado A; Dyack S; Neumann LM; Seemanová E; Volleth M; Haaf T; Kalscheuer VM
    Hum Genet; 2006 Sep; 120(2):179-86. PubMed ID: 16783566
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
    Hadzsiev K; Gyorsok Z; Till A; Czakó M; Bartsch O
    Clin Dysmorphol; 2019 Jul; 28(3):137-141. PubMed ID: 30789376
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.
    Chiang PW; Lee NC; Chien N; Hwu WL; Spector E; Tsai AC
    Am J Med Genet A; 2009 Jul; 149A(7):1463-7. PubMed ID: 19533794
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
    Cross E; Duncan-Flavell PJ; Howarth RJ; Hobbs JI; Thomas NS; Bunyan DJ
    Am J Med Genet A; 2020 Nov; 182(11):2508-2520. PubMed ID: 32827181
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.
    Balci S; Ergün MA; Yüksel-Konuk EB; Bartsch O
    Turk J Pediatr; 2008; 50(3):265-8. PubMed ID: 18773673
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
    Korzus E
    Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
    Bartholdi D; Roelfsema JH; Papadia F; Breuning MH; Niedrist D; Hennekam RC; Schinzel A; Peters DJ
    J Med Genet; 2007 May; 44(5):327-33. PubMed ID: 17220215
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
    Angius A; Uva P; Oppo M; Persico I; Onano S; Olla S; Pes V; Perria C; Cuccuru G; Atzeni R; Serra G; Cucca F; Sotgiu S; Hennekam RC; Crisponi L
    Am J Med Genet A; 2019 Apr; 179(4):634-638. PubMed ID: 30737887
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
    Ajmone PF; Avignone S; Gervasini C; Giacobbe A; Monti F; Costantino A; Esposito S; Marchisio P; Triulzi F; Milani D
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):406-415. PubMed ID: 29637745
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.
    Bai Z; Li G; Kong X
    BMC Med Genomics; 2023 Feb; 16(1):24. PubMed ID: 36797748
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
    Wild KT; Nomakuchi TT; Sheppard SE; Leavens KF; De León DD; Zackai EH
    Am J Med Genet A; 2021 Apr; 185(4):1251-1255. PubMed ID: 33442921
    [TBL] [Abstract][Full Text] [Related]  

  • 60. High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
    Gervasini C; Mottadelli F; Ciccone R; Castronovo P; Milani D; Scarano G; Bedeschi MF; Belli S; Pilotta A; Selicorni A; Zuffardi O; Larizza L
    Eur J Hum Genet; 2010 Jul; 18(7):768-75. PubMed ID: 20125191
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.