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 *

260 related articles for article (PubMed ID: 30458662)

  • 21. Clinical characterization of individuals with the distal 1q21.1 microdeletion.
    Edwards SD; Schulze KV; Rosenfeld JA; Westerfield LE; Gerard A; Yuan B; Grigorenko EL; Posey JE; Bi W; Liu P
    Am J Med Genet A; 2021 May; 185(5):1388-1398. PubMed ID: 33576134
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
    Grau C; Starkovich M; Azamian MS; Xia F; Cheung SW; Evans P; Henderson A; Lalani SR; Scott DA
    PLoS One; 2017; 12(4):e0175962. PubMed ID: 28414775
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Recurrent duplications of 17q12 associated with variable phenotypes.
    Mitchell E; Douglas A; Kjaegaard S; Callewaert B; Vanlander A; Janssens S; Yuen AL; Skinner C; Failla P; Alberti A; Avola E; Fichera M; Kibaek M; Digilio MC; Hannibal MC; den Hollander NS; Bizzarri V; Renieri A; Mencarelli MA; Fitzgerald T; Piazzolla S; van Oudenhove E; Romano C; Schwartz C; Eichler EE; Slavotinek A; Escobar L; Rajan D; Crolla J; Carter N; Hodge JC; Mefford HC
    Am J Med Genet A; 2015 Dec; 167A(12):3038-45. PubMed ID: 26420380
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.
    Quintela I; Barros F; Lago-Leston R; Castro-Gago M; Carracedo A; Eiris J
    Am J Med Genet A; 2015 Jun; 167(6):1315-22. PubMed ID: 25847113
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
    Wang Q; Chen P; Liu J; Lou J; Liu Y; Yuan H
    BMC Med Genomics; 2020 May; 13(1):66. PubMed ID: 32381089
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
    Woodward KJ; Stampalia J; Vanyai H; Rijhumal H; Potts K; Taylor F; Peverall J; Grumball T; Sivamoorthy S; Alinejad-Rokny H; Wray J; Whitehouse A; Nagarajan L; Scurlock J; Afchani S; Edwards M; Murch A; Beilby J; Baynam G; Kiraly-Borri C; McKenzie F; Heng JIT
    Mol Genet Genomic Med; 2019 Feb; 7(2):e00507. PubMed ID: 30614210
    [TBL] [Abstract][Full Text] [Related]  

  • 29. An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
    Koç A; Kan D; Karaer K; Ergün MA; Karaoğuz MY; Gücüyener K; Hinreiner S; Liehr T; Perçin EF
    Eur J Pediatr; 2008 Jun; 167(6):655-9. PubMed ID: 17668239
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
    Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
    Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
    Glinton KE; Hurst ACE; Bowling KM; Cristian I; Haynes D; Adstamongkonkul D; Schnappauf O; Beck DB; Brewer C; Parikh AS; Shinde DN; Donaldson A; Brautbar A; Koene S; van Haeringen A; Piton A; Capri Y; Furlan M; Gardella E; Møller RS; van de Beek I; Zuurbier L; Lakeman P; Bayat A; Martinez J; Signer R; Torring PM; Engelund MB; Gripp KW; Amlie-Wolf L; Henderson LB; Midro AT; Tarasów E; Stasiewicz-Jarocka B; Moskal-Jasinska D; Vos P; Boschann F; Stoltenburg C; Puk O; Mero IL; Lossius K; Mignot C; Keren B; Acosta Guio JC; Briceño I; Gomez A; Yang Y; Stankiewicz P
    Am J Med Genet A; 2021 May; 185(5):1366-1378. PubMed ID: 33522091
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
    Honda S; Hayashi S; Nakane T; Imoto I; Kurosawa K; Mizuno S; Okamoto N; Kato M; Yoshihashi H; Kubota T; Nakagawa E; Goto Y; Inazawa J
    Am J Med Genet A; 2012 Jun; 158A(6):1292-303. PubMed ID: 22528406
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.
    Papuc SM; Hackmann K; Andrieux J; Vincent-Delorme C; Budişteanu M; Arghir A; Schrock E; Ţuţulan-Cuniţă AC; Di Donato N
    Eur J Med Genet; 2015 May; 58(5):319-23. PubMed ID: 25858704
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
    Shi S; Lin S; Chen B; Zhou Y
    Mol Med Rep; 2017 Nov; 16(5):6837-6845. PubMed ID: 28901431
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports.
    Rim JH; Kim JA; Yoo J
    Yonsei Med J; 2017 Nov; 58(6):1241-1244. PubMed ID: 29047251
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
    Upadhyai P; Amiri EF; Guleria VS; Bielas SL; Girisha KM; Shukla A
    Clin Dysmorphol; 2020 Jul; 29(3):127-131. PubMed ID: 32459673
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
    Goetzinger L; Starks RD; Dillahunt K; Major H; Nagy JM; Sidhu A
    Mol Genet Genomic Med; 2021 Aug; 9(8):e1755. PubMed ID: 34268909
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
    Wolfe K; McQuillin A; Alesi V; Boudry Labis E; Cutajar P; Dallapiccola B; Dentici ML; Dieux-Coeslier A; Duban-Bedu B; Duelund Hjortshøj T; Goel H; Loddo S; Morrogh D; Mosca-Boidron AL; Novelli A; Olivier-Faivre L; Parker J; Parker MJ; Patch C; Pelling AL; Smol T; Tümer Z; Vanakker O; van Haeringen A; Vanlerberghe C; Strydom A; Skuse D; Bass N
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):397-405. PubMed ID: 29603867
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.