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Journal Abstract Search

115 related items for PubMed ID: 17163533

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  • 5. Fronto-ocular syndrome: newly recognized trigonocephaly syndrome.
    Schneider EN, Bogdanow A, Goodrich JT, Marion RW, Cohen MM.
    Am J Med Genet; 2000 Jul 17; 93(2):89-93. PubMed ID: 10869108
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  • 6. A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.
    Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR.
    Am J Med Genet A; 2006 Jun 01; 140(11):1131-5. PubMed ID: 16691627
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  • 9. Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.
    Braddock SR, Jones KL, Superneau DW, Jones MC.
    Am J Med Genet; 1993 Oct 01; 47(5):640-3; discussion 644. PubMed ID: 8266990
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  • 10. Craniosynostosis in Kabuki syndrome.
    Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA.
    J Neurosurg Pediatr; 2010 Aug 01; 6(2):198-201. PubMed ID: 20672944
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  • 11. Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: a novel syndrome?
    Bonkowsky JL, Bohnsack JF, Pennington MJ, Viskochil D, Thompson JA.
    Am J Med Genet A; 2004 Jul 01; 128A(1):52-6. PubMed ID: 15211657
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  • 14. Familial trigonocephaly associated with short stature and developmental delay.
    Say B, Meyer J.
    Am J Dis Child; 1981 Aug 01; 135(8):711-2. PubMed ID: 6168197
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  • 15. Pure de novo partial trisomy 6p in a girl with craniosynostosis.
    Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB.
    Am J Med Genet A; 2013 Feb 01; 161A(2):343-51. PubMed ID: 23307468
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  • 16. Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.
    Capra V, De Marco P, Merello E, Baffico AM, Baldi M, Divizia MT, Gimelli S, Mallet D, Raso A, Mascelli S, Tomà P, Rossi A, Pavanello M, Cama A, Magnani C.
    Eur J Med Genet; 2009 Feb 01; 52(1):17-22. PubMed ID: 19022412
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  • 19. 16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay.
    Maldžienė Ž, Bulanovaitė E, Aleksiūnienė B, Utkus A, Preiksaitiene E.
    Clin Dysmorphol; 2019 Oct 01; 28(4):195-197. PubMed ID: 31205052
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  • 20. Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.
    Longman C, Whiteford M, Koppel D, Donaldson M, Paterson W, Tolmie J.
    Clin Dysmorphol; 2003 Oct 01; 12(4):215-20. PubMed ID: 14564206
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