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Journal Abstract Search

131 related items for PubMed ID: 23072187

  • 1. A case of onycotricodysplasia with intellectual disability, without neutropenia.
    Ikbal M, Eker HK, Tos T, Alp MY, Cebi AH.
    Genet Couns; 2012; 23(3):389-92. PubMed ID: 23072187
    [Abstract] [Full Text] [Related]

  • 2. Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.
    Dallapiccola B, Mingarelli R, Obregon G.
    Clin Genet; 1994 Apr; 45(4):200-2. PubMed ID: 8062439
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome.
    Hernández A, Olivares F, Cantú JM.
    Clin Genet; 1979 Feb; 15(2):147-52. PubMed ID: 761414
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  • 4. A patient with onychotrichodysplasia, neutropenia and normal intelligence.
    Verhage J, Habbema L, Vrensen GF, Roord JJ, Bleeker-Wagemakers EM.
    Clin Genet; 1987 Jun; 31(6):374-80. PubMed ID: 3621639
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  • 5. [Trichothiodystrophy: progresssive manifestations].
    Foulc P, Jumbou O, David A, Sarasin A, Stalder JF.
    Ann Dermatol Venereol; 1999 Oct; 126(10):703-7. PubMed ID: 10604009
    [Abstract] [Full Text] [Related]

  • 6. Neutrophil kinetics in hereditary and congenital neutropenias.
    Joyce RA, Boggs DR, Chervenick PA.
    N Engl J Med; 1976 Dec 16; 295(25):1385-90. PubMed ID: 980093
    [Abstract] [Full Text] [Related]

  • 7. Parkinsonism may be part of the symptom complex of DOOR syndrome.
    Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappatà S, De Michele G.
    Parkinsonism Relat Disord; 2014 Apr 16; 20(4):463-5. PubMed ID: 24486243
    [No Abstract] [Full Text] [Related]

  • 8. Report of a patient with Temple-Baraitser syndrome.
    Yesil G, Guler S, Yuksel A, Alanay Y.
    Am J Med Genet A; 2014 Mar 16; 164A(3):848-51. PubMed ID: 24357613
    [No Abstract] [Full Text] [Related]

  • 9. [Onycho-trichodysplasia-neutropenia].
    Numabe H.
    Ryoikibetsu Shokogun Shirizu; 2001 Mar 16; (34 Pt 2):374-5. PubMed ID: 11528791
    [No Abstract] [Full Text] [Related]

  • 10. CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome.
    Baughman FA.
    Birth Defects Orig Artic Ser; 1971 Jun 16; 7(8):100-2. PubMed ID: 5173251
    [Abstract] [Full Text] [Related]

  • 11. Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.
    Harrison S, Sinclair R.
    Australas J Dermatol; 2004 May 16; 45(2):103-5. PubMed ID: 15068456
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  • 15. Trichothiodystrophy with chronic neutropenia and mild mental retardation.
    Itin PH, Pittelkow MR.
    J Am Acad Dermatol; 1991 Feb 16; 24(2 Pt 2):356-8. PubMed ID: 1999547
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  • 16. Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.
    Gutiérrez-Amavizca BE, Juárez-Vázquez CI, Orozco-Castellanos R, Arnaud L, Macías-Gómez NM, Barros-Nuñez P.
    Genet Couns; 2013 Feb 16; 24(2):185-91. PubMed ID: 24032289
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  • 20. [Mental retardation revealing mucopolysaccharidosis type I in a child treated for cystic fibrosis: a case report].
    Scheidecker S, Vodoff-Oehler MV, Issa-Brunet L, Peralta MF.
    Arch Pediatr; 2011 Dec 16; 18(12):1324-6. PubMed ID: 22030348
    [Abstract] [Full Text] [Related]

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