A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population

2005 ◽  
Vol 37 (6) ◽  
pp. 310-317 ◽  
Author(s):  
Mohamed Farouk EL-Ashry ◽  
Mai Mohamed Abd El-Aziz ◽  
Alison J. Hardcastle ◽  
Shomi S. Bhattacharya ◽  
Neil D. Ebenezer
Keyword(s):  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Corneal Dystrophy ◽  
Molecular Genetic Study

Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients

1999 ◽  
Vol 49 (2) ◽  
pp. 71-74 ◽  
Author(s):  
Vaidutis Kučinskas ◽  
AnnetteM. Payne ◽  
Daiva Ambrasienė ◽  
Vaclovas Jurgelevičius ◽  
Danguolė Steponavičiūtė ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Autosomal Dominant Retinitis Pigmentosa

Molecular genetic study of Egyptian patients with macular corneal dystrophy

2009 ◽  
Vol 94 (2) ◽  
pp. 250-255 ◽  
Author(s):  
M. F. El-Ashry ◽  
M. M. Abd El-Aziz ◽  
O. Shalaby ◽  
S. S. Bhattacharya
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Corneal Dystrophy ◽  
Molecular Genetic Study ◽  
Egyptian Patients ◽  
Macular Corneal Dystrophy

scholarly journals MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia

2009 ◽  
Vol 55 (3) ◽  
pp. 3-7 ◽  
Author(s):  
I I Dedov ◽  
Natal'ya Anatol'evna Zubkova ◽  
N Yu Arbatskaya ◽  
A G Akopova ◽  
A N Tyul'pakov
Keyword(s):  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Dominant Mode ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Molecular Genetic Study ◽  
Genetic Characteristics ◽  
Molecular Bases

Maturity-onset diabetes of the young (MODY) is a clinically heterogenic group of diseases, with an autosomal dominant mode of inheritance and gene mutations resulting in dysfunction of pancreatic β cells. The type of diabetes and further treatment policy can be reliably determined on the basis of the data of a molecular genetic study that confirms gene mutations. Today there are known mutations of 8 genes, of which glucokinase (GCK) gene mutation that leads to the development of MODY2 and occurs most frequently. The spread of this mutation among DM patients in our country has not been studied. The diagnosis of MODY2 was established in 13 members of 5 families with the clinical picture typical of this type. The molecular genetic study revealed 4 new and 1 earlier described mutations. The findings extend ideas on the molecular bases of MODY, which creates conditions for improving the diagnosis of this disease, genetic counseling and the development of pathogenetically founded approaches to treatment.

Dedifferentiated endometrial carcinomas with neuroendocrine features: a clinicopathologic, immunohistochemical, and molecular genetic study

2018 ◽  
Vol 72 ◽  
pp. 100-106 ◽  
Author(s):  
Iñigo Espinosa ◽  
Antonio De Leo ◽  
Emanuela D'Angelo ◽  
Juan M. Rosa-Rosa ◽  
Marina Corominas ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Endometrial Carcinomas

scholarly journals Erratum: Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

2000 ◽  
Vol 13 (12) ◽  
pp. 1336-1346 ◽  
Author(s):  
Maureen J O'Sullivan ◽  
Michael Kyriakos ◽  
Xiaopei Zhu ◽  
Mark R Wick ◽  
Paul E Swanson ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

2003 ◽  
Vol 25 (5) ◽  
pp. 362-366 ◽  
Author(s):  
Harumi Saijo ◽  
Harumi Nakayama ◽  
Takanori Ezoe ◽  
Katsuhito Araki ◽  
Sui Sone ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Subcortical Cysts
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