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Alobar Holoprosencephaly
Known as:
Holoprosencephaly, Familial Alobar
, Holoprosencephaly, Alobar
, Holoprosencephalies, Alobar
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A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline…
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National Institutes of Health
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Related topics
Related topics
4 relations
Arhinencephaly
Lobar Holoprosencephaly
Semilobar Holoprosencephaly
Broader (1)
Holoprosencephaly
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Diagnosis of fetal non‐chromosomal abnormalities on routine ultrasound examination at 11–13 weeks' gestation
A. Syngelaki
,
A. Hammami
,
S. Bower
,
V. Zidere
,
R. Akolekar
,
K. Nicolaides
Ultrasound in Obstetrics and Gynecology
2019
Corpus ID: 199547944
To examine the performance of the routine 11–13‐week scan in detecting fetal non‐chromosomal abnormalities.
Review
2010
Review
2010
Epidemiology of holoprosencephaly: Prevalence and risk factors
I. Orioli
,
E. Castilla
American Journal of Medical Genetics. Part C…
2010
Corpus ID: 23719601
The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE…
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Review
2004
Review
2004
A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly
E. Stashinko
,
N. Clegg
,
+4 authors
E. Levey
American Journal of Medical Genetics. Part A
2004
Corpus ID: 2205838
Holoprosencephaly (HPE) is a brain malformation resulting from a primary defect in development of the basal forebrain during…
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Highly Cited
2000
Highly Cited
2000
Alobar holoprosencephaly at 9 weeks gestational age visualized by two‐ and three‐dimensional ultrasound
H. Blaas
,
S. Eik-Nes
,
T. Vainio
,
C. V. Isaksen
Ultrasound in Obstetrics and Gynecology
2000
Corpus ID: 32707705
We present the ultrasound detection of alobar holoprosencephaly (HPE) with cyclopia in an embryo of 9 weeks 2 days last menstrual…
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Review
1999
Review
1999
Holoprosencephaly survival and performance.
Mason Barr
,
M. Michael Cohen
American journal of medical genetics
1999
Corpus ID: 11786922
Parents of children with holoprosencephaly often have been told that their children will die within days or weeks. When this does…
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Highly Cited
1995
Highly Cited
1995
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.
Kazuhiro Yamakawa
,
Steve Chappell Mitchell
,
+6 authors
J. Korenberg
Human Molecular Genetics
1995
Corpus ID: 26221075
The Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) and autoimmune polyglandular disease type I (APECED) have…
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Highly Cited
1994
Highly Cited
1994
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
Maximilian MUENKEabC
,
Fiorella GURRIERIa
,
+12 authors
R. A. PRICEbm
Proceedings of the National Academy of Sciences…
1994
Corpus ID: 9484654
Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance…
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Highly Cited
1991
Highly Cited
1991
Holoprosencephaly as a possible embryonic alcohol effect.
Gabriel M. Ronen
,
Wayne L. Andrews
American journal of medical genetics
1991
Corpus ID: 11375079
Three mothers of infants with holoprosencephaly consumed alcohol heavily in pregnancy. We postulate that early alcohol exposure…
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Highly Cited
1984
Highly Cited
1984
Alobar holoprosencephaly: ultrasonographic prenatal diagnosis.
R. Filly
,
D. Chinn
,
P. Callen
Radiology
1984
Corpus ID: 13448154
Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Embryopathologic…
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Highly Cited
1979
Highly Cited
1979
Monozygotic twinning and structural defects.
A. Schinzel
,
David W. Smith
,
JAMES R. Miller
Jornal de Pediatria
1979
Corpus ID: 24171770
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