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Journal Abstract Search

145 related items for PubMed ID: 32799722

  • 1. First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly.
    Xu BQ, Zhen L, Li DZ.
    J Obstet Gynaecol; 2021 Jul; 41(5):821-823. PubMed ID: 32799722
    [No Abstract] [Full Text] [Related]

  • 2. Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
    Zarate YA, Bell C, Schaefer GB.
    Cleft Palate Craniofac J; 2015 Mar; 52(2):237-9. PubMed ID: 24805776
    [Abstract] [Full Text] [Related]

  • 3. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
    Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK, UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Care4Rare Canada ConsortiumThe Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Bulman DE, Boycott KM, Lines MA.
    Hum Mutat; 2016 Feb; 37(2):148-54. PubMed ID: 26507355
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
    Ryu JH, Kim HY, Ko JM, Kim MJ, Seong MW, Choi BY, Chae JH.
    Eur J Med Genet; 2022 May; 65(5):104478. PubMed ID: 35395430
    [Abstract] [Full Text] [Related]

  • 5. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
    Gandomi SK, Parra M, Reeves D, Yap V, Gau CL.
    Clin Genet; 2015 May; 87(1):80-4. PubMed ID: 24266672
    [Abstract] [Full Text] [Related]

  • 6. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
    Green B, Nikkhah D, Cobb AR, Dunaway DJ.
    J Plast Reconstr Aesthet Surg; 2013 Aug; 66(8):e234-5. PubMed ID: 23664577
    [No Abstract] [Full Text] [Related]

  • 7. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
    Sarkar A, Emrick LT, Smith EM, Austin EG, Yang Y, Hunter JV, Scaglia F, Lalani SR.
    Am J Med Genet A; 2015 Apr; 167A(4):914-8. PubMed ID: 25735261
    [No Abstract] [Full Text] [Related]

  • 8. Mandibulofacial dysostosis with microcephaly: a syndrome to remember.
    Silva JB, Soares D, Leão M, Santos H.
    BMJ Case Rep; 2019 Aug 13; 12(8):. PubMed ID: 31413053
    [Abstract] [Full Text] [Related]

  • 9. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
    Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN.
    Am J Med Genet A; 2021 Feb 13; 185(2):413-423. PubMed ID: 33247512
    [Abstract] [Full Text] [Related]

  • 10. The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.
    Williams LA, Quinonez SC, Uhlmann WR.
    J Genet Couns; 2017 Oct 13; 26(5):894-901. PubMed ID: 28612151
    [Abstract] [Full Text] [Related]

  • 11. A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
    Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.
    Cold Spring Harb Mol Case Stud; 2022 Jun 13; 8(4):. PubMed ID: 35732499
    [Abstract] [Full Text] [Related]

  • 12. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
    Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.
    Hum Mutat; 2014 Apr 13; 35(4):478-85. PubMed ID: 24470203
    [Abstract] [Full Text] [Related]

  • 13. A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.
    Narumi-Kishimoto Y, Ozawa H, Yanagi K, Kawai T, Okamura K, Hata K, Kaname T, Matsubara Y.
    Clin Dysmorphol; 2020 Oct 13; 29(4):186-188. PubMed ID: 32541334
    [No Abstract] [Full Text] [Related]

  • 14. Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.
    Lyulcheva-Bennett E, Kershaw C, Baker E, Gillies S, McCarthy E, Higgs J, Canham N, Hennigan D, Parks C, Bennett D.
    BMC Med Genomics; 2024 Sep 06; 17(1):226. PubMed ID: 39243045
    [Abstract] [Full Text] [Related]

  • 15. A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.
    Yang M, Liu Y, Lin Z, Sun H, Hu T.
    J Clin Lab Anal; 2022 May 06; 36(5):e24440. PubMed ID: 35435265
    [Abstract] [Full Text] [Related]

  • 16. Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.
    Beauchamp MC, Djedid A, Daupin K, Clokie K, Kumar S, Majewski J, Jerome-Majewska LA.
    PLoS One; 2019 May 06; 14(7):e0219280. PubMed ID: 31276534
    [Abstract] [Full Text] [Related]

  • 17. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
    Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A.
    BMC Med Genet; 2020 Sep 17; 21(1):182. PubMed ID: 32943010
    [Abstract] [Full Text] [Related]

  • 18. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
    Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.
    Brain Dev; 2017 Feb 17; 39(2):177-181. PubMed ID: 27670155
    [Abstract] [Full Text] [Related]

  • 19. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?
    Delb W, Lipfert S, Henn W.
    Clin Dysmorphol; 2001 Apr 17; 10(2):105-9. PubMed ID: 11310989
    [Abstract] [Full Text] [Related]

  • 20. Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
    Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF.
    Am J Med Genet; 1987 May 17; 27(1):183-8. PubMed ID: 3300331
    [Abstract] [Full Text] [Related]

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