Holoprosencephaly

Yamada S. , Uwabe C. , Fujii S. , Shiota K. Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection. Birth Defects Res A Clin Mol Teratol. 2004; 70(8): 495–508.

Orioli I.M. , Castilla E.E. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010; 154C(1): 13–21.

Pineda-Alvarez D.E. , Dubourg C. , David V. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet. 2010; 154C(1): 93–101.

Barr M. Jr. , Hanson J.W. , Currey K. Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983; 102(4): 565–8.

Johnson C.Y. , Rasmussen S.A. Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010; 154C(1): 73–85.

DeMyer W.E. , Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963; 23: 1–36.

Probst F.P. The prosencephalies: morphology, neuroradiological appearances and differential diagnosis. Berlin: Springer-Verlag; 1979. 145 p.

Cohen M.M. Jr. . Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet. 1989; 34(2): 271–88.

Hahn J.S. , Barnes P.D. Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 2010; 154C(1): 120–32.

Barkovich A.J. , Quint D.J. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 1993; 14(2): 431–40.

Marcorelles P. , Laquerriere A. Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010; 154C(1): 109–19.

Jellinger K. , Gross H. , Kaltenbäck E. , Grisold W. Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations. Acta Neuropathol. 1981; 55(1): 1–10.

Barkovich A.J. Apparent atypical callosal dysgenesis: analysis of MR findings in six cases and their relationship to holoprosencephaly. AJNR Am J Neuroradiol. 1990; 11(2): 333–9.

McCormack W M. Jr. , Shen J.J. , Curry S.M. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet. 2002; 112(4): 384–9.

Demyer W. , Zeman W. , Palmer C.G. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964; 34: 256–63.

Olsen C.L. , Hughes J.P. , Youngblood L.G. , Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984–1989. Am J Med Genet. 1997; 73(2): 217–26.