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 *

108 related articles for article (PubMed ID: 27385966)

  • 1. A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.
    Lovrecic L; Bertok S; Žerjav Tanšek M
    Mol Syndromol; 2016 May; 7(2):93-8. PubMed ID: 27385966
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
    Tuğ E; Ergün MA; Perçin EF
    Turk J Pediatr; 2018; 60(1):94-98. PubMed ID: 30102487
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
    van Rij MC; Hollink IHIM; Terhal PA; Kant SG; Ruivenkamp C; van Haeringen A; Kievit JA; van Belzen MJ
    Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.
    Riegel M; Moreira LM; Espirito Santo LD; Toralles MB; Schinzel A
    Mol Cytogenet; 2014; 7(1):77. PubMed ID: 25426167
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
    Eto K; Sakai N; Shimada S; Shioda M; Ishigaki K; Hamada Y; Shinpo M; Azuma J; Tominaga K; Shimojima K; Ozono K; Osawa M; Yamamoto T
    Am J Med Genet A; 2013 Dec; 161A(12):3049-56. PubMed ID: 24039031
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.
    Yuan H; Meng Z; Zhang L; Luo X; Liu L; Chen M; Li X; Zhao W; Liang L
    Mol Cytogenet; 2016; 9():2. PubMed ID: 26759605
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
    Fanizza I; Bertuzzo S; Beri S; Scalera E; Massagli A; Sali ME; Giorda R; Bonaglia MC
    Eur J Med Genet; 2014 Jul; 57(7):334-8. PubMed ID: 24780630
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.
    Szalai R; Till A; Szabo A; Melegh B; Hadzsiev K; Czako M
    Mol Syndromol; 2023 Apr; 14(2):109-122. PubMed ID: 37064343
    [TBL] [Abstract][Full Text] [Related]  

  • 9. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
    J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Case report: A new
    Minotti C; Graziani L; Sallicandro E; Digilio MC; Falasca R; Alesi V; Novelli G; Dentici ML; Loddo S; Novelli A
    Front Genet; 2023; 14():1315291. PubMed ID: 38380230
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
    Natiq A; Elalaoui SC; Miesch S; Bonnet C; Jonveaux P; Amzazi S; Sefiani A
    Mol Cytogenet; 2014; 7():40. PubMed ID: 24963350
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z; Jeng LJ; Slavotinek A; Yu J
    BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
    Palumbo O; Accadia M; Palumbo P; Leone MP; Scorrano A; Palladino T; Stallone R; Bonaglia MC; Carella M
    Eur J Med Genet; 2018 May; 61(5):248-252. PubMed ID: 29274487
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
    Moortgat S; Verellen-Dumoulin C; Maystadt I; Parmentier B; Grisart B; Hennecker JL; Destree A
    Eur J Med Genet; 2011; 54(2):177-80. PubMed ID: 21167329
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.
    Yamamoto T; Shimojima K; Yamazaki S; Ikeno K; Tohyama J
    Congenit Anom (Kyoto); 2016 Nov; 56(6):253-255. PubMed ID: 27230627
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
    Gerundino F; Marseglia G; Pescucci C; Pelo E; Benelli M; Giachini C; Federighi B; Antonelli C; Torricelli F
    Eur J Med Genet; 2014; 57(11-12):649-53. PubMed ID: 25451714
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
    Tassano E; Uccella S; Ronchetto P; Martinheira Da Silva JS; Viaggi S; Mancardi M; Ramenghi L; Murri A; Biondi M; Gimelli G; Morerio C; Malacarne M; Coviello D
    Cytogenet Genome Res; 2022; 162(3):132-139. PubMed ID: 35896065
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report.
    Tos T; Alp MY; Karacan CD; Andiran N; Colakoglu EY
    Genet Couns; 2014; 25(2):197-201. PubMed ID: 25059019
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.
    Palumbo P; Antona V; Palumbo O; Piccione M; Nardello R; Fontana A; Carella M; Corsello G
    Gene; 2014 Apr; 538(2):373-8. PubMed ID: 24487052
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.