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Journal Abstract Search

195 related items for PubMed ID: 22821869

  • 1.
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  • 2. 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; 173(9):1253-6. PubMed ID: 24973050
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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 two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
    Li FF, Wang XD, Zhu MW, Lou ZH, Zhang Q, Zhu CY, Feng HL, Lin ZG, Liu SL.
    Metab Brain Dis; 2015 Dec; 30(6):1387-94. PubMed ID: 26231886
    [Abstract] [Full Text] [Related]

  • 6. 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; 61(2):302-5. PubMed ID: 24106199
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  • 7. 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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  • 9. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
    Nguyen TH, Nguyen NL, Vu CD, Ngoc CTB, Nguyen NK, Nguyen HH.
    Genes Genomics; 2021 Feb 19; 43(2):115-121. PubMed ID: 33460028
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  • 11. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
    Bober MB, Jackson AP.
    Curr Osteoporos Rep; 2017 Apr 19; 15(2):61-69. PubMed ID: 28409412
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  • 12. Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
    Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L.
    J Pediatr Endocrinol Metab; 2013 Apr 19; 26(7-8):771-4. PubMed ID: 23612698
    [Abstract] [Full Text] [Related]

  • 13. 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 19; 182(6):1407-1420. PubMed ID: 32267100
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  • 14. 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 19; 43(2):337-342. PubMed ID: 33059947
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  • 15. 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 19; 155A(11):2885-96. PubMed ID: 21990275
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  • 16. Hip pathology in Majewski osteodysplastic primordial dwarfism type II.
    Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG.
    J Pediatr Orthop; 2014 Sep 19; 34(6):585-90. PubMed ID: 24705347
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  • 17. 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 19; 25(2):68-72. PubMed ID: 26641461
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  • 18. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.
    Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK.
    J Neurosurg Pediatr; 2016 Dec 19; 25(6):717-723. PubMed ID: 27611897
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  • 19. The smallest of the small.
    Hall JG.
    Gene; 2013 Oct 01; 528(1):55-7. PubMed ID: 23583796
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  • 20. Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.
    Ozel F, Direk N, Ataseven Kulali M, Giray Bozkaya O, Ada E, Alptekin K.
    Psychiatr Genet; 2019 Apr 01; 29(2):57-60. PubMed ID: 30531648
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