chromosome 16p13
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scholarly journals Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI

2019 ◽  
Vol 21 (2) ◽  
pp. 79-82 ◽  
Author(s):  
Morgan A. Gingerich ◽  
Vaibhav Sidarala ◽  
Scott A. Soleimanpour
Keyword(s):  
Type 1 Diabetes ◽  
Chromosome 16P13

scholarly journals Functional evaluation of the role of C-type lectin domain family 16A at the chromosome 16p13 locus

2014 ◽  
Vol 175 (3) ◽  
pp. 485-497 ◽  
Author(s):  
H. Zouk ◽  
E. D'Hennezel ◽  
X. Du ◽  
H. Ounissi-Benkalha ◽  
C. A. Piccirillo ◽  
...  
Keyword(s):  
Functional Evaluation ◽  
Domain Family ◽  
Lectin Domain ◽  
Chromosome 16P13

Up-date sulla sclerosi tuberosa

2003 ◽  
Vol 16 (3) ◽  
pp. 551-552
Author(s):  
P. Balestri ◽  
G. Bartalini ◽  
B. Caliani
Keyword(s):  
Cell Proliferation ◽  
Autosomal Dominant ◽  
Brain Structures ◽  
The Other ◽  
University Hospital ◽  
Multisystem Disease ◽  
Chromosome 9Q34 ◽  
Impaired Control ◽  
Chromosome 16P13 ◽  
Neuroimaging Techniques

Tuberous sclerosis is an autosomal dominant multisystem disease caused by two different genes, one located on chromosome 9q34 (TSC1) and the other on chromosome 16p13 (TSC2). The most common major neurological symptoms are epilepsy and mental retardation. Neuroimaging techniques will accurately depict the frequency and extent of anatomical involvement of brain structures. This involvement is the result of impaired control of cell proliferation, migration and differentiation leading to the development of hamartomas in different organs and tissues. We report our findings in a series of 93 patients recruited at the Paediatric Clinic of Siena University Hospital.

scholarly journals Genetic Linkage of Attention-Deficit/Hyperactivity Disorder on Chromosome 16p13, in a Region Implicated in Autism

2002 ◽  
Vol 71 (4) ◽  
pp. 959-963 ◽  
Author(s):  
Susan L. Smalley ◽  
Vlad Kustanovich ◽  
Sonia L. Minassian ◽  
Jennifer L. Stone ◽  
Matthew N. Ogdie ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Genetic Linkage ◽  
Hyperactivity Disorder ◽  
Chromosome 16P13

scholarly journals Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13

2000 ◽  
Vol 66 (5) ◽  
pp. 1552-1557 ◽  
Author(s):  
Federico Zara ◽  
Elena Gennaro ◽  
Mariano Stabile ◽  
Ilaria Carbone ◽  
Michela Malacarne ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Myoclonic Epilepsy ◽  
Chromosome 16P13 ◽  
Myoclonic Epilepsy Of Infancy

scholarly journals Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis

1998 ◽  
Vol 62 (4) ◽  
pp. 810-815 ◽  
Author(s):  
Teresa A. Smolarek ◽  
Lisa L. Wessner ◽  
Francis X. McCormack ◽  
Johanna C. Mylet ◽  
Anil G. Menon ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Loss Of Heterozygosity ◽  
Chromosome 16P13

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1997 ◽  
Vol 16 (1) ◽  
pp. 88-92 ◽  
Author(s):  
Gert Matthijs ◽  
Els Schollen ◽  
Els Pardon ◽  
Maria Veiga-Da-Cunha ◽  
Jaak Jaeken ◽  
...  
Keyword(s):  
Type I ◽  
Chromosome 16P13
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