Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance

2019 ◽  
Vol 96 (1) ◽  
pp. 91-97
Author(s):  
Maria Goncharova ◽  
Olesya Pshenichnikova ◽  
Yulia Luchinina ◽  
Yaroslav Pustovoit ◽  
Irina Karpova ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Acute Intermittent Porphyria ◽  
Mutation Spectrum ◽  
Molecular Genetic Study

scholarly journals WT1 gene mutation in exone 7 in boy with disturbance of the sex formation and the bilateral nephroblastoma

2020 ◽  
Vol 64 (6) ◽  
pp. 94-97
Author(s):  
N. R. Akramov ◽  
I. V. Osipova ◽  
A. M. Zakirova ◽  
E. I. Khaertdinov ◽  
E. L. Rashitova
Keyword(s):  
Gene Mutation ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Lower Pole ◽  
Molecular Genetic Study ◽  
Metachronous Tumor ◽  
The Right ◽  
Surgical Operations ◽  
I Gene ◽  
Final Operation

The case of observing a patient with WT1 gene mutation in exone 7 with bilateral Wilms metachronous tumor, disturbance of the sex formation in the form of scrotal hypospadias and bilateral abdominal cryptorchidism, without nephropathy, is presented. The child underwent surgical operations: left-sided nephrectomy, resection of the lower pole of the right kidney, bilateral orchiopexy and two-stage hypospadias correction. 7 years after the start of treatment and 3 years after the final operation, the condition of the child was estimated as satisfactory. The presented case by the results of the molecular genetic study has no previously described analogues and requires further observation.

scholarly journals PF429 MOLECULAR GENETIC STUDY OF ACUTE INTERMITTENT PORPHYRIA IN RUSSIA

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 168
Author(s):  
M. Goncharova ◽  
O. Pschenichnikova ◽  
Y. Pustovoit ◽  
I. Karpova ◽  
V. Surin
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Acute Intermittent Porphyria ◽  
Molecular Genetic Study

scholarly journals Co-inheritance of α- and β-thalassemia in a Bangladeshi family

2017 ◽  
Vol 10 (2) ◽  
pp. 123 ◽  
Author(s):  
Mohammad Mizanur Rahman ◽  
Lutfunnahar Khan
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Genetic Study ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Heterozygous State ◽  
Molecular Genetic Study ◽  
Hematological Indices ◽  
Mild Anemia ◽  
The Family

<p>The double heterozygous state of α– and β–thalassemia is a relatively rare genetic disorder in Bangladesh which may alter the hematological indices and modify the phenotypic features of thalassemia. An 8 year old boy of a non-consanguineous couple who inherited both α– and β–thalassemia gene from his parents had presented with only mild anemia. Capillary hemoglobin electrophoresis showed the hemoglobin patterns which were in favor of the diagnosis of combined heterozygous alpha and beta thalassaemia carrier. Although molecular genetic study of the boy confirmed the presence of IVS 1–5 G&gt;C point mutation for β–thalassemia but could not detect α–thalassemia gene as the sample was tested for only five most common α–thalassemia gene mutation which is not as much prevalent in Bangladesh. However, basing on the family screening and the hemoglobin pattern on capillary hemoglobin electrophoresis, it can be concluded that the boy is certainly carrying both α– and β–thalassemia gene.</p>

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
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