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Journal Abstract Search

163 related items for PubMed ID: 26641461

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  • 4. 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
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  • 5. 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
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  • 6. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.
    Abdel-Salam GM, Emam BA, Khalil YM, Abdel-Hamid MS.
    Am J Med Genet A; 2016 Jan 25; 170A(1):277-82. PubMed ID: 26419500
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  • 7. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
    Hagiwara H, Matsumoto H, Uematsu K, Zaha K, Sekinaka Y, Miyake N, Matsumoto N, Nonoyama S.
    Brain Dev; 2021 Feb 25; 43(2):337-342. PubMed ID: 33059947
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  • 8. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
    Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P.
    Clin Genet; 2016 Dec 25; 90(6):550-555. PubMed ID: 27040866
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  • 9. 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 25; 173(9):1253-6. PubMed ID: 24973050
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  • 11. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
    Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N.
    Am J Med Genet A; 2011 Nov 25; 155A(11):2885-96. PubMed ID: 21990275
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  • 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
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  • 13. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).
    Krøigård AB, Frost M, Larsen MJ, Ousager LB, Frederiksen AL.
    Bone; 2016 Nov 25; 92():145-149. PubMed ID: 27591150
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  • 14. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
    Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M.
    Am J Med Genet A; 2018 Feb 25; 176(2):465-469. PubMed ID: 29265708
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  • 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 25; 63(2):103643. PubMed ID: 30922925
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  • 16. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
    Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS.
    Am J Med Genet A; 2013 Aug 25; 161A(8):1875-81. PubMed ID: 23794361
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  • 17. 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 25; 182(6):1407-1420. PubMed ID: 32267100
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  • 19. Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
    Tabib A, Richmond CM, McGaughran J.
    Am J Med Genet A; 2023 Apr 25; 191(4):1094-1100. PubMed ID: 36622817
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