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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

225 related items for PubMed ID: 32639022

  • 1. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
    Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshøj T, Kreiborg S, Buciek Hove H, Rooryck C.
    Clin Genet; 2020 Oct; 98(4):384-389. PubMed ID: 32639022
    [Abstract] [Full Text] [Related]

  • 2. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
    Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F.
    Hum Mutat; 2015 Dec; 36(12):1150-4. PubMed ID: 26294094
    [Abstract] [Full Text] [Related]

  • 3. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
    McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST.
    Am J Med Genet A; 2011 Oct; 155A(10):2370-80. PubMed ID: 21910217
    [Abstract] [Full Text] [Related]

  • 4. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
    Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.
    Eur J Med Genet; 2015 Sep; 58(9):455-65. PubMed ID: 26206081
    [Abstract] [Full Text] [Related]

  • 5. Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
    Gurung N, Grosse G, Draaken M, Hilger AC, Nauman N, Müller A, Gembruch U, Merz WM, Reutter H, Ludwig M.
    Mol Med Rep; 2015 Jul; 12(1):1579-83. PubMed ID: 25775927
    [Abstract] [Full Text] [Related]

  • 6. Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.
    Choinitzki V, Zwink N, Bartels E, Baudisch F, Boemers TM, Hölscher A, Turial S, Bachour H, Heydweiller A, Kurz R, Bartmann P, Pauly M, Brokmeier U, Leutner A, Nöthen MM, Schumacher J, Jenetzky E, Reutter H.
    Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):786-91. PubMed ID: 24307608
    [Abstract] [Full Text] [Related]

  • 7. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.
    Reutter H, Hilger AC, Hildebrandt F, Ludwig M.
    Pediatr Nephrol; 2016 Nov; 31(11):2025-33. PubMed ID: 26857713
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. VACTERL/VATER Association.
    Solomon BD.
    Orphanet J Rare Dis; 2011 Aug 16; 6():56. PubMed ID: 21846383
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.
    Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N.
    J Pediatr; 2014 Mar 16; 164(3):451-7.e1. PubMed ID: 24332453
    [No Abstract] [Full Text] [Related]

  • 15. Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.
    Zamariolli M, Burssed B, Moysés-Oliveira M, Colovati M, Bellucco FTDS, Dos Santos LC, Alvarez Perez AB, Bragagnolo S, Melaragno MI.
    Am J Med Genet A; 2021 Jul 16; 185(7):2056-2064. PubMed ID: 33880880
    [Abstract] [Full Text] [Related]

  • 16. PCSK5 mutation in a patient with the VACTERL association.
    Nakamura Y, Kikugawa S, Seki S, Takahata M, Iwasaki N, Terai H, Matsubara M, Fujioka F, Inagaki H, Kobayashi T, Kimura T, Kurahashi H, Kato H.
    BMC Res Notes; 2015 Jun 09; 8():228. PubMed ID: 26055999
    [Abstract] [Full Text] [Related]

  • 17. Scimitar syndrome in a case with VACTERL association.
    Fritz CJ, Reutter HM, Herberg U.
    Cardiol Young; 2015 Mar 09; 25(3):606-9. PubMed ID: 24905790
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.