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Journal Abstract Search

145 related items for PubMed ID: 36842471

  • 1. Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
    Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M.
    Eur J Med Genet; 2023 May; 66(5):104733. PubMed ID: 36842471
    [Abstract] [Full Text] [Related]

  • 2. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
    Bober MB, Jackson AP.
    Curr Osteoporos Rep; 2017 Apr; 15(2):61-69. PubMed ID: 28409412
    [Abstract] [Full Text] [Related]

  • 3. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
    Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.
    Clin Genet; 2012 Aug; 82(2):140-6. PubMed ID: 21815888
    [Abstract] [Full Text] [Related]

  • 4. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
    Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K.
    Am J Med Genet A; 2012 Jun; 158A(6):1455-61. PubMed ID: 22581640
    [Abstract] [Full Text] [Related]

  • 5. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
    Waich S, Janecke AR, Parson W, Greber-Platzer S, Müller T, Huber LA, Valovka T, Vodopiutz J.
    Clin Genet; 2020 Sep; 98(3):282-287. PubMed ID: 32557621
    [Abstract] [Full Text] [Related]

  • 6. Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.
    Hettiarachchi D, Subasinghe SMV, Anandagoda GG, Panchal H, Lai PS, Dissanayake VHW.
    BMC Med Genomics; 2022 Apr 14; 15(1):82. PubMed ID: 35422036
    [Abstract] [Full Text] [Related]

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  • 9. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
    Krøigård AB, Jackson AP, Bicknell LS, Baple E, Brusgaard K, Hansen LK, Ousager LB.
    Clin Dysmorphol; 2016 Apr 14; 25(2):68-72. PubMed ID: 26641461
    [No Abstract] [Full Text] [Related]

  • 10. Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
    Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF.
    Int J Mol Sci; 2023 Jul 31; 24(15):. PubMed ID: 37569667
    [Abstract] [Full Text] [Related]

  • 11. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y, Wu X, Du L, Zheng J, Deng S, Bi X, Chen Q, Xie H, Férec C, Cooper DN, Luo Y, Fang Q, Chen JM.
    Hum Genomics; 2018 Jan 25; 12(1):3. PubMed ID: 29370840
    [Abstract] [Full Text] [Related]

  • 12. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
    Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP.
    Am J Med Genet A; 2012 Nov 25; 158A(11):2719-25. PubMed ID: 22821869
    [Abstract] [Full Text] [Related]

  • 13. Microcephalic osteodysplastic primordial dwarfism type 1.
    Ferrell S, Johnson A, Pearson W.
    BMJ Case Rep; 2016 Jun 16; 2016():. PubMed ID: 27312855
    [Abstract] [Full Text] [Related]

  • 14. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
    Liu H, Tao N, Wang Y, Yang Y, He X, Zhang Y, Zhou Y, Liu X, Feng X, Sun M, Xu F, Su Y, Li L.
    Mol Genet Genomic Med; 2021 Sep 16; 9(9):e1761. PubMed ID: 34331829
    [Abstract] [Full Text] [Related]

  • 15. Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
    Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M.
    Eur J Med Genet; 2020 Feb 16; 63(2):103643. PubMed ID: 30922925
    [Abstract] [Full Text] [Related]

  • 16. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
    Dieks JK, Baumer A, Wilichowski E, Rauch A, Sigler M.
    Eur J Pediatr; 2014 Sep 16; 173(9):1253-6. PubMed ID: 24973050
    [Abstract] [Full Text] [Related]

  • 17. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
    Pachajoa H, Ruiz-Botero F, Isaza C.
    J Med Case Rep; 2014 Jun 13; 8():191. PubMed ID: 24928221
    [Abstract] [Full Text] [Related]

  • 18. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.
    Alrajhi H, Alallah J, Shawli A, Alghamdi K, Hakami F.
    BMJ Case Rep; 2019 May 30; 12(5):. PubMed ID: 31151966
    [Abstract] [Full Text] [Related]

  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Duker A, Jackson A, Bober MB.
    ; 1993 May 30. PubMed ID: 34978779
    [Abstract] [Full Text] [Related]

  • 20. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
    Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS.
    Am J Med Genet A; 2020 Jun 30; 182(6):1407-1420. PubMed ID: 32267100
    [Abstract] [Full Text] [Related]

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