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 *

218 related articles for article (PubMed ID: 29070031)

  • 1. 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
    Wessel K; Suleiman J; Khalaf TE; Kishore S; Rolfs A; El-Hattab AW
    BMC Med Genet; 2017 Oct; 18(1):119. PubMed ID: 29070031
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
    Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
    Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 17q23.3 de novo microdeletion involving only TANC2 gene: A new case.
    Tassano E; Accogli A; Ronchetto P; Tortora D; Tavella E; Gimelli G; Mancardi M; Malacarne M; Coviello DA
    Eur J Med Genet; 2020 Dec; 63(12):104094. PubMed ID: 33160097
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.
    Milani D; D'Arrigo S; Guerneri S; Selicorni A; Riva D; Pantaleoni C
    J Child Neurol; 2006 Dec; 21(12):1084-5. PubMed ID: 17156706
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
    Caselli R; Ballarati L; Selicorni A; Milani D; Maitz S; Valtorta C; Larizza L; Giardino D
    Eur J Med Genet; 2010; 53(5):325-8. PubMed ID: 20621612
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Mullegama SV; Rosenfeld JA; Orellana C; van Bon BW; Halbach S; Repnikova EA; Brick L; Li C; Dupuis L; Rosello M; Aradhya S; Stavropoulos DJ; Manickam K; Mitchell E; Hodge JC; Talkowski ME; Gusella JF; Keller K; Zonana J; Schwartz S; Pyatt RE; Waggoner DJ; Shaffer LG; Lin AE; de Vries BB; Mendoza-Londono R; Elsea SH
    Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
    Bierhals T; Maddukuri SB; Kutsche K; Girisha KM
    Am J Med Genet A; 2013 Feb; 161A(2):352-9. PubMed ID: 23307502
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
    Alvarado DM; Aferol H; McCall K; Huang JB; Techy M; Buchan J; Cady J; Gonzales PR; Dobbs MB; Gurnett CA
    Am J Hum Genet; 2010 Jul; 87(1):154-60. PubMed ID: 20598276
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
    Lu W; Bacino CA; Richards BS; Alvarez C; VanderMeer JE; Vella M; Ahituv N; Sikka N; Dietz FR; Blanton SH; Hecht JT
    Am J Med Genet A; 2012 Jul; 158A(7):1620-7. PubMed ID: 22678995
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW; Schaaf CP; Fang P; Roeder E; Kimonis VE; Church JA; Patel A; Cheung SW
    BMC Med Genet; 2015 Mar; 16():12. PubMed ID: 25927380
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
    Peterson JF; Ghaloul-Gonzalez L; Madan-Khetarpal S; Hartman J; Surti U; Rajkovic A; Yatsenko SA
    Am J Med Genet A; 2014 Feb; 164A(2):364-9. PubMed ID: 24592505
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
    Pebrel-Richard C; Kemeny S; Gouas L; Eymard-Pierre E; Blanc N; Francannet C; Tchirkov A; Goumy C; Vago P
    Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
    Al Dhaibani MA; Allingham-Hawkins D; El-Hattab AW
    BMC Med Genet; 2017 Oct; 18(1):118. PubMed ID: 29061174
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
    Nimmakayalu M; Major H; Sheffield V; Solomon DH; Smith RJ; Patil SR; Shchelochkov OA
    Am J Med Genet A; 2011 Feb; 155A(2):418-23. PubMed ID: 21271665
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
    Traylor RN; Bruno DL; Burgess T; Wildin R; Spencer A; Ganesamoorthy D; Amor DJ; Hunter M; Caplan M; Rosenfeld JA; Theisen A; Torchia BS; Shaffer LG; Ballif BC; Slater HR
    PLoS One; 2010 Aug; 5(8):e12462. PubMed ID: 20805988
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
    Karolak JA; Gambin T; Honey EM; Slavik T; Popek E; Stankiewicz P
    BMC Med Genomics; 2020 Mar; 13(1):34. PubMed ID: 32143628
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A family with an inverted tandem duplication 5q22.1q23.2.
    Schmidt T; Bartels I; Liehr T; Burfeind P; Zoll B; Shoukier M
    Cytogenet Genome Res; 2013; 139(1):65-70. PubMed ID: 23051634
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
    Williams SR; Mullegama SV; Rosenfeld JA; Dagli AI; Hatchwell E; Allen WP; Williams CA; Elsea SH
    Eur J Hum Genet; 2010 Apr; 18(4):436-41. PubMed ID: 19904302
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.
    Reis FG; Pinto IP; Minasi LB; Melo AV; Cunha DM; Ribeiro CL; da Silva CC; Silva DM; da Cruz AD
    Genet Mol Res; 2017 Jan; 16(1):. PubMed ID: 28128410
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.