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 *

147 related articles for article (PubMed ID: 31388356)

  • 1. Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.
    Fernández-Hernández L; Navarro-Cobos MJ; Alcántara-Ortigoza MA; Ramos-Ángeles SE; Molina-Álvarez B; Díaz-Cuéllar S; Asch-Daich B; González-Del Angel A
    Mol Cytogenet; 2019; 12():35. PubMed ID: 31388356
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?
    Vogt PH; Fernandes S
    APMIS; 2003 Jan; 111(1):115-26; discussion 126-7. PubMed ID: 12752250
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
    Tabet AC; Pilorge M; Delorme R; Amsellem F; Pinard JM; Leboyer M; Verloes A; Benzacken B; Betancur C
    Eur J Hum Genet; 2012 May; 20(5):540-6. PubMed ID: 22234155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
    Silipigni R; Cattaneo E; Baccarin M; Fumagalli M; Bedeschi MF
    Eur J Med Genet; 2016 Jan; 59(1):39-42. PubMed ID: 26700408
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
    Tabet AC; Verloes A; Pilorge M; Delaby E; Delorme R; Nygren G; Devillard F; Gérard M; Passemard S; Héron D; Siffroi JP; Jacquette A; Delahaye A; Perrin L; Dupont C; Aboura A; Bitoun P; Coleman M; Leboyer M; Gillberg C; Benzacken B; Betancur C
    Mol Autism; 2015; 6():19. PubMed ID: 25844147
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two Y chromosomes with duplication of the distal long arm including the entire AZFc region.
    Hsu HK; Su MT; Chen M; Yen P; Kuo PL
    Gene; 2014 Feb; 536(2):444-8. PubMed ID: 24321694
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
    Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
    J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature.
    Vogt PH; Bender U; Deibel B; Kiesewetter F; Zimmer J; Strowitzki T
    Cell Biosci; 2021 Mar; 11(1):60. PubMed ID: 33766143
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis.
    Vogt PH; Edelmann A; Hirschmann P; Köhler MR
    Reprod Fertil Dev; 1995; 7(4):685-93. PubMed ID: 8711205
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis.
    Bardoni B; Zuffardi O; Guioli S; Ballabio A; Simi P; Cavalli P; Grimoldi MG; Fraccaro M; Camerino G
    Genomics; 1991 Oct; 11(2):443-51. PubMed ID: 1769656
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
    Doco-Fenzy M; Holder-Espinasse M; Bieth E; Magdelaine C; Vincent MC; Khoury M; Andrieux J; Zhang F; Lupski JR; Klink R; Schneider A; Goze-Martineau O; Cuisset JM; Vallee L; Manouvrier-Hanu S; Gaillard D; de Martinville B
    Am J Med Genet A; 2008 Apr; 146A(7):917-24. PubMed ID: 18327785
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
    Stevens SJ; Blom EW; Siegelaer IT; Smeets EE
    Eur J Hum Genet; 2015 Apr; 23(4):543-6. PubMed ID: 24986827
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.
    Hryshchenko NV; Livshits LA
    Tsitol Genet; 2009; 43(1):36-41. PubMed ID: 19663313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update.
    Vogt PH
    Mol Hum Reprod; 1998 Aug; 4(8):739-44. PubMed ID: 9733430
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Human Y chromosome deletions in Yq11 and male fertility.
    Vogt PH
    Adv Exp Med Biol; 1997; 424():17-30. PubMed ID: 9361758
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
    Moog U; Engelen JJ; Weber BW; Van Gelderen M; Steyaert J; Baas F; Sijstermans HM; Fryns JP
    Genet Couns; 2004; 15(1):73-80. PubMed ID: 15083703
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.