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Journal Abstract Search

454 related items for PubMed ID: 12571786

  • 1. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.
    Klinge L, Schaper J, Wieczorek D, Voit T.
    Neuropediatrics; 2002 Dec; 33(6):309-13. PubMed ID: 12571786
    [Abstract] [Full Text] [Related]

  • 2. [Differential diagnostic considerations in microcephalic dwarfism].
    Kraft CN, Diedrich O, Wagner U, Schmitt O.
    Z Orthop Ihre Grenzgeb; 2000 Dec; 138(2):126-30. PubMed ID: 10820877
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  • 3. Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
    Galasso C, Lo-Castro A, Lalli C, Cerminara C, Curatolo P.
    Pediatr Neurol; 2008 Jun; 38(6):435-8. PubMed ID: 18486828
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  • 4. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II.
    Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M.
    Brain Dev; 2005 Apr; 27(3):237-40. PubMed ID: 15737708
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  • 5. 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; 155A(11):2885-96. PubMed ID: 21990275
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  • 7. Osteodysplastic variant of primordial dwarfism.
    Shebib S, Hugosson C, Sakati N, Nyhan WL.
    Am J Med Genet; 1991 Aug 01; 40(2):146-50. PubMed ID: 1897566
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  • 8. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.
    Meinecke P, Passarge E.
    J Med Genet; 1991 Nov 01; 28(11):795-800. PubMed ID: 1770539
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  • 9. 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 01; 82(2):140-6. PubMed ID: 21815888
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  • 10. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.
    Winter RM, Wigglesworth J, Harding BN.
    Am J Med Genet; 1985 Jul 01; 21(3):569-74. PubMed ID: 4025388
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  • 11. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
    Unal S, Alanay Y, Cetin M, Boduroglu K, Utine E, Cormier-Daire V, Huber C, Ozsurekci Y, Kilic E, Simsek Kiper OP, Gumruk F.
    Pediatr Blood Cancer; 2014 Feb 01; 61(2):302-5. PubMed ID: 24106199
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  • 12. 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 01; 161A(8):1875-81. PubMed ID: 23794361
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  • 14. Microlissencephaly: a heterogeneous malformation of cortical development.
    Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P.
    Neuropediatrics; 1998 Jun 01; 29(3):113-9. PubMed ID: 9706619
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  • 15. 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 01; 158A(11):2719-25. PubMed ID: 22821869
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 43(2):337-342. PubMed ID: 33059947
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  • 17. A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).
    Eslava A, Garcia-Puig M, Corripio R.
    Am J Case Rep; 2021 Dec 19; 22():e933919. PubMed ID: 34923567
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  • 19. 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 19; 173(9):1253-6. PubMed ID: 24973050
    [Abstract] [Full Text] [Related]

  • 20. Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.
    Majewski F, Stoeckenius M, Kemperdick H.
    Am J Med Genet; 1982 May 19; 12(1):37-42. PubMed ID: 7201239
    [No Abstract] [Full Text] [Related]

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