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Cranioectodermal Dysplasia
Known as:
Sensenbrenner Syndrome
, Levin Syndrome I
, CRANIOECTODERMAL DYSPLASIA 1
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An autosomal recessive disorder associated with mutation(s) in at least one of four genes (WDR35, IFT122, WDR19, or IFT43). It is characterized by…
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National Institutes of Health
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Related topics
Related topics
23 relations
Autosomal recessive inheritance
Bicuspid aortic valve
Brachydactyly
Byzanthine arch palate
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Broader (3)
Bone and Bones
Craniosynostosis
Ectodermal Dysplasia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Wenjuan Zhang
,
S. P. Taylor
,
+10 authors
D. Cohn
Human Mutation
2018
Corpus ID: 205924067
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as…
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Highly Cited
2012
Highly Cited
2012
Engulfing Astrocytes Protect Neurons from Contact-Induced Apoptosis following Injury
Camilla Lööv
,
L. Hillered
,
T. Ebendal
,
A. Erlandsson
PLoS ONE
2012
Corpus ID: 14135839
Clearing of dead cells is a fundamental process to limit tissue damage following brain injury. Engulfment has classically been…
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2012
2012
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
C. Bacino
,
S. Dhar
,
N. Brunetti‐Pierri
,
Brendan H. Lee
,
P. Bonnen
American Journal of Medical Genetics. Part A
2012
Corpus ID: 39921640
Sensenbrenner syndrome and unclassified short rib‐polydactyly conditions are ciliopathies with overlapping phenotypes and genetic…
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Highly Cited
2010
Highly Cited
2010
The Effects of the Global Crisis on Islamic and Conventional Banks: A Comparative Study
M. Hasan
,
Jemma Dridi
Social Science Research Network
2010
Corpus ID: 56022918
This paper examines the performance of Islamic banks (IBs) and conventional banks (CBs) during the recent global crisis by…
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Highly Cited
2010
Highly Cited
2010
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
C. Gilissen
,
H. Arts
,
+11 authors
H. Brunner
American Journal of Human Genetics
2010
Corpus ID: 37063651
Highly Cited
2010
Highly Cited
2010
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Joanna Walczak-Sztulpa
,
Jonathan Eggenschwiler
,
+15 authors
A. Kuss
American Journal of Human Genetics
2010
Corpus ID: 27391055
2010
2010
Initial eccentricity fluctuations and their relation to higher-order flow harmonics
R. Lacey
,
R. Wei
,
J. Jia
,
N. Ajitanand
,
A. Taranenko
2010
Corpus ID: 118371462
Monte Carlo simulations are used to compute the centrality dependence of the participant eccentricities ({var_epsilon}{sub n}) in…
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2009
2009
Cranioectodermal dysplasia: A probable ciliopathy
A. Konstantinidou
,
H. Fryssira
,
+6 authors
E. Patsouris
American Journal of Medical Genetics. Part A
2009
Corpus ID: 31080779
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder…
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Review
1997
Review
1997
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
Marcelo J. A. Amar
,
R. Sutphen
,
B. Kousseff
American journal of medical genetics
1997
Corpus ID: 19500505
Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and…
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Highly Cited
1996
Highly Cited
1996
Discovery by genetic programming of a cellular automata rule that is better than any known rule for the majority classification problem
D. Andre
,
F. H. Bennett
,
J. Koza
1996
Corpus ID: 11972762
It is difficult to program cellular automata. This is especially true when the desired computation requires global communication…
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