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Congenital anomaly of brain
Known as:
brain deformity
, brain deformities
, Brain Malformations
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National Institutes of Health
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Related topics
Related topics
22 relations
Narrower (9)
Acrania
Anencephaly
Bathrocephaly
Congenital cerebral anomaly
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Brain Diseases
Cerebellar Diseases
Congenital Abnormality
Congenital defects
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Broader (3)
Congenital Disorders
Fetal Diseases
nervous system disorder
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia
D. Amann-Zalcenstein
,
N. Avidan
,
+12 authors
B. Lerer
European Journal of Human Genetics
2006
Corpus ID: 21462318
Schizophrenia, a severe neuropsychiatric disorder, is believed to involve multiple genetic factors. A significant body of…
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Highly Cited
2006
Highly Cited
2006
Determinants of drug brain uptake in a rat model of seizure-associated malformations of cortical development
N. Marchi
,
G. Guiso
,
+8 authors
A. Vezzani
Neurobiology of Disease
2006
Corpus ID: 28812011
Review
2005
Review
2005
epto-Optic Dysplasia omplex: A eterogeneous alformation yndrome
iero Pavone
,
P. Iannetti
,
uigi Manfré
,
artino Ruggieri
2005
Corpus ID: 6286110
epto-optic dysplasia is defined by a variable combiation of dysgenesis of midline brain structures includng optic nerve…
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2003
2003
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event
J. Vermeesch
,
R. Thoelen
,
I. Salden
,
M. Raes
,
G. Matthijs
,
J. Fryns
Journal of Medical Genetics
2003
Corpus ID: 8112903
Various chromosomal rearrangements are associated with the distal 8p region. Among them are the inv dup(8p),1 del(8p22),2–5 and…
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Highly Cited
1999
Highly Cited
1999
LIS1 is a microtubule-associated phosphoprotein.
T. Sapir
,
A. Cahana
,
Rony Seger
,
Sergei Nekhai
,
O. Reiner
European Journal of Biochemistry
1999
Corpus ID: 28000689
Lissencephaly, a severe brain malformation, may be caused by mutations in the LIS1 gene. LIS1 encodes a microtubule-associated…
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1995
1995
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome.
M. Mizuguchi
,
S. Takashima
,
A. Kakita
,
M. Yamada
,
K. Ikeda
American Journal of Pathology
1995
Corpus ID: 2719733
The Miller-Dieker syndrome, a disorder of neuronal migration, is caused by deletions of chromosome 17p13.3. Recently, a gene on…
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Highly Cited
1989
Highly Cited
1989
ELECTROENCEPHALOGRAPHS ASPECTS OF HEMIMEGALENCEPHALY
F. Paladin
,
C. Chiron
,
O. Dulac
,
P. Plouin
,
G. Ponsot
Developmental Medicine & Child Neurology
1989
Corpus ID: 21416159
The authors retrospectively studied the electroencephalograms (EEGs) of 12 patients with hemimegalencephaly—a unilateral brain…
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1984
1984
Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34).
A. Schinzel
,
J. M. Opitz
American journal of medical genetics
1984
Corpus ID: 45868196
This is a report of a family with a balanced reciprocal translocation, rcp (1;7)(q32;q34). Among pregnancies from translocation…
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Highly Cited
1978
Highly Cited
1978
Drinking during pregnancy in alcoholic women.
R. Little
,
A. Streissguth
Alcoholism: Clinical and Experimental Research
1978
Corpus ID: 28076211
Assessment of specific periods of bringe drinking (including dates, duration, and amount consumed) would seem particularly…
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Highly Cited
1977
Highly Cited
1977
Convulsive Disorders in the First Year of Life: Etiologic Factors
J. Chevrie
,
J. Aicardi
Epilepsia
1977
Corpus ID: 39326042
Among 746 patients with first year convul‐ sions, 140 had febrile convulsions (36% with a positive family history of convulsive…
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