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Journal Abstract Search

184 related items for PubMed ID: 26842768

  • 21. Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).
    Hou JW.
    Am J Med Genet A; 2004 Oct 01; 130A(2):200-3. PubMed ID: 15372519
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  • 22. The Epigenetic Regulator SMCHD1 in Development and Disease.
    Jansz N, Chen K, Murphy JM, Blewitt ME.
    Trends Genet; 2017 Apr 01; 33(4):233-243. PubMed ID: 28222895
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  • 23. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
    Mégarbané A, Haddad-Zebouni S, Nabbout R, Khoury AH, Traboulsi EI.
    Am J Med Genet; 1999 Mar 12; 83(2):82-7. PubMed ID: 10190477
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  • 26. [Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].
    Ruprecht KW, Majewski F.
    Klin Monbl Augenheilkd; 1978 May 12; 172(5):708-15. PubMed ID: 672092
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  • 27. Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.
    Sanderson B, Leach C, Zein M, Islam O, MacLean G, Strube YNJ, Guerin A.
    Am J Med Genet A; 2021 Feb 12; 185(2):534-538. PubMed ID: 33179440
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  • 30. Arhinia revisited.
    Cohen D, Goitein KJ.
    Rhinology; 1987 Dec 12; 25(4):237-44. PubMed ID: 3324281
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  • 33. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.
    Goldberg MF, McKusick VA.
    Am J Ophthalmol; 1971 May 12; 71(5):1128-33. PubMed ID: 4998085
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  • 34. Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
    Fledelius HC.
    Acta Ophthalmol Scand Suppl; 1996 May 12; (219):23-6. PubMed ID: 8741111
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  • 35. Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings.
    Can B.
    Clin Genet; 1997 Oct 12; 52(4):250. PubMed ID: 9383034
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  • 36. Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion.
    Blustajn J, Kirsch CF, Panigrahy A, Netchine I.
    AJNR Am J Neuroradiol; 2008 Aug 12; 29(7):1266-9. PubMed ID: 18417599
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  • 37. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
    Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
    J Clin Endocrinol Metab; 2008 Mar 12; 93(3):920-4. PubMed ID: 18089695
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  • 38. FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
    Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM.
    J Biol Chem; 2018 Jun 22; 293(25):9841-9853. PubMed ID: 29748383
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  • 40. Congenital arhinia: case report of a rare congenital anomaly.
    Fakhraee SH, Nariman S, Taghipour R.
    Arch Iran Med; 2011 Sep 22; 14(5):355-6. PubMed ID: 21888462
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