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22q13.3 Deletion Syndrome
Known as:
PHELAN-MCDERMID SYNDROME
, Telomeric 22q13 Monosomy Syndrome
, Deletion 22q13 Syndrome
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National Institutes of Health
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Related topics
Related topics
16 relations
Aggressive behavior
Blepharoptosis
Global developmental delay
Long narrow head
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Broader (3)
Chromosome Deletion
Chromosomes, Human, Pair 22
Congenital chromosomal disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
sp3-Bonded silicon allotropes based on the Kelvin problem.
Hui-Yan Zhao
,
Jing Wang
,
Qingmin Ma
,
Y. Liu
Physical Chemistry, Chemical Physics - PCCP
2013
Corpus ID: 24933548
The Kelvin problem, how to partition three-dimensional space into cells of equal volume with minimal area, is a fascinating one…
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2013
2013
The Coordinated Climate-Crop Modeling Project (C3MP)
S. McDermid
,
A. Ruane
,
+67 authors
Zhao Zhigan
2013
Corpus ID: 161760130
Alex Ruane, Sonali McDermid, Nicholas Hudson, Cynthia Rosenzweig, L. R. Ahuja, Saseendran S. Anapalli, Jakarat Anothai, Senthold…
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2011
2011
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
D. Misceo
,
O. Rødningen
,
+8 authors
Eirik Frengen
American Journal of Medical Genetics. Part A
2011
Corpus ID: 205313840
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to…
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2010
2010
A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings.
Chih-ping Chen
,
Shuan-Pei Lin
,
+6 authors
Wayseen Wang
European Journal of Medical Genetics
2010
Corpus ID: 29198801
2008
2008
A random Weaire-Phelan foam
C. Lautensack
,
T. Sych
2008
Corpus ID: 137071035
Nowadays foams made of various materials (ceramics, metals or polymers) are used in many application areas. Properties such as…
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Review
2004
Review
2004
22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician
J. Havens
,
J. Visootsak
,
M. C. Phelan
,
J. Graham
La Clinica pediatrica
2004
Corpus ID: 7193195
Recent advances in genetic testing can help to provide a specific diagnosis to children born with syndromes that result in…
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2004
2004
22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.
A. Barakat
,
P. Pearl
,
M. Acosta
,
B. Runkle
Clinical Dysmorphology
2004
Corpus ID: 17017168
We describe a two-year-old girl with 22q13 deletion syndrome (MIM # 606232), 46, XX, de l (22) (q13.31). ish del (22) (q13.31…
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2000
2000
Cryptic subtelomeric translocations in the 22q13 deletion syndrome
V. Praphanphoj
,
B. Goodman
,
G. Thomas
,
G. Raymond
Journal of Medical Genetics
2000
Corpus ID: 13805342
Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have…
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1997
1997
A COMPARISON OF WIND TUNNEL AND CFD METHODS APPLIED TO NATURAL VENTILATION DESIGN
D. Alexander
,
H. Jenkins
,
P. Jones
,
Welsh
1997
Corpus ID: 16109584
The design of a naturally ventilated atrium was assessed using both wind tunnel and CFD methods to appraise and modify the…
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1996
1996
Comparing the Weaire-phelan Equal-volume Foam To
J. Sullivan
1996
Corpus ID: 18558691
The problem of partitioning space into equal-volume cells, using the least interface area, was considered in 1887 by Sir William…
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