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Chromosome 15q13.3 Microdeletion Syndrome
Known as:
15q13.3 Microdeletion Syndrome
, Microdeletion 15q13.3 Syndrome
, Chromosome 15q13.3 Deletion Syndrome
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National Institutes of Health
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Related topics
Related topics
5 relations
Broader (5)
Chromosome Deletion
Chromosomes, Human, Pair 15
Congenital chromosomal disease
Intellectual Disability
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Magnesium Supplement and the 15q11.2 BP1–BP2 Microdeletion (Burnside–Butler) Syndrome: A Potential Treatment?
M. Butler
International Journal of Molecular Sciences
2019
Corpus ID: 190532011
The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler) syndrome is an emerging disorder that encompasses four genes (NIPA1, NIPA2…
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2016
2016
[Outcome of treatment of Y chromosome AZFc microdeletion patients].
L. Zhao
,
H. Jiang
,
+6 authors
L. L. Ma
Beijing da xue xue bao. Yi xue ban = Journal of…
2016
Corpus ID: 13641336
OBJECTIVE To discuss the treatment options for patients with azoospermia factor (AZF) c microdeletion on Y chromosome. METHODS…
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2014
2014
Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
Adria M Jerkovich
,
M. Butler
Journal of Pediatric Genetics
2014
Corpus ID: 43113287
Abstract We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a…
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2014
2014
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
K. Usrey
,
C. Williams
,
M. Dasouki
,
L. Fairbrother
,
M. Butler
Case Reports in Genetics
2014
Corpus ID: 10291578
The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5). The BP1-BP2 region spans approximately 500 kb and contains four…
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2013
2013
De novo 15q13.3 microdeletion with cryptogenic west syndrome
E. Lacaze
,
N. Gruchy
,
+8 authors
M. Gérard
American Journal of Medical Genetics. Part A
2013
Corpus ID: 22155487
West syndrome is a well‐recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental…
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Review
2013
Review
2013
Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
H. Akbaş
,
N. Çine
,
+4 authors
M. Fidanboy
Case Reports in Obstetrics and Gynecology
2013
Corpus ID: 16842496
Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0…
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2012
2012
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy
M. Fanciulli
,
L. Santulli
,
+12 authors
C. Nobile
Neurology
2012
Corpus ID: 207121028
Objectives: To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE…
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2002
2002
A new case of Yq microdeletion transmitted from a normal father to two infertile sons
V. Gatta
,
L. Stuppia
,
G. Calabrese
,
E. Morizio
,
P. Guanciali-Franchi
,
G. Palka
Journal of Medical Genetics
2002
Corpus ID: 46151504
During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been…
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2002
2002
Case report:Cryptorchidism and AZF microdeletion
R.Dada
,
N.P.Gupta
2002
Corpus ID: 82446322
1998
1998
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
L. Taine
,
Cyril Goizet
,
+6 authors
Didier Lacombe
American journal of medical genetics
1998
Corpus ID: 46606677
The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and…
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