Results 191 to 200 of about 11,012 (235)
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Familial Holoprosencephaly

Developmental Medicine & Child Neurology, 1970
SUMMARYThree siblings with holoprosencephaly, two of whom were non‐identical twins, and a fourth sibling who was stillborn with hydrocephalus and probably had the same condition, are reported. The malformation was demonstrated by ventricular air studies and the diagnosis was confirmed at autopsy in the one child who died.
M, Khan, B, Rozdilsky, J W, Gerrard
openaire   +2 more sources

Neuropathology of holoprosencephaly

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010
AbstractHoloprosencephaly (HPE) is a brain malformation which results from a primary defect in induction and patterning of the rostral neural tube during early embryogenesis and usually considered as an impaired cleavage of the prosencephalon. The review of neuropathologic findings highlights a complex malformation involving not only the prosencephalon
Pascale, Marcorelles, Annie, Laquerriere
openaire   +2 more sources

Embryogenesis of holoprosencephaly

American Journal of Medical Genetics Part A, 2007
AbstractHoloprosencephaly (HPE) is a malformation of the human brain caused primarily by incomplete division of the prosencephalon into two halves and is often associated with various facial anomalies. Although HPE is rather rare in newborns (1/10,000–15,000 births), it is frequently encountered in therapeutic abortuses (>1/250).
Kohei, Shiota   +3 more
openaire   +2 more sources

Teratogenesis of holoprosencephaly

American Journal of Medical Genetics, 2002
AbstractTeratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutated genes and teratogens involving the sonic hedgehog signaling network and ...
M Michael, Cohen, Kohei, Shiota
openaire   +2 more sources

Holoprosencephaly

Fetal and Maternal Medicine Review, 2001
Holoprosencephaly (HPE) is an uncommon and clinically severe abnormality of forebrain development, resulting from failure of septation, or cleavage, of the midline forebrain structures. It encompasses a range of brain pathology classified as lobar, semilobar or alobar HPE reflecting increasing degrees of failed septation.
PJ Bullen, SC Robson
openaire   +4 more sources

Aventriculi associated with holoprosencephaly

open access: yesComputerized Medical Imaging and Graphics, 1998
Recently, an 11 year-old girl was reported with fusion of the cerebral hemispheres (holoprosencephaly), and cerebellar hemispheres (rhombencephalosynapsia), without identifiable ventricles. The condition was named as aventriculi.
R N Sener
exaly   +2 more sources

Disorders of Ventral Induction/Spectrum of Holoprosencephaly.

Neuroimaging clinics of North America, 2019
Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity.
S. Calloni, L. Caschera, F. Triulzi
semanticscholar   +1 more source

Holoprosencephaly

Neurology, 2002
Almost four decades have passed since William DeMeyer linked facial dysmorphism and holoprosencephaly (HPE) with the phrase, “the face predicts the brain.” HPE is a congenital brain malformation in which the hemispheres and basal ganglia are incompletely separated to varying degrees.1 Subsequent advances in neuroimaging and molecular biology permit ...
openaire   +1 more source

Holoprosencephaly from conception to adulthood

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. There is a wide clinical variability depending on the HPE subtype seen on imaging.
K. Weiss   +3 more
semanticscholar   +1 more source

Familial holoprosencephaly

Clinical Genetics, 1979
V, Escobar, J M, Cantu, A O, Martin
openaire   +2 more sources

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