Search Results - "Sparber, Peter A."

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome by Marakhonov, Andrey V, Vasilyeva, Tatyana A, Minzhenkova, Marina E, Sukhanova, Natella V, Sparber, Peter A, Andreeva, Natalya A, Teleshova, Margarita V, Baybagisova, Fatima K-M, Shilova, Nadezhda V, Kutsev, Sergey I, Zinchenko, Rena A

“…Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney…”
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Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome by Bobreshova, Anastasia M, Ionova, Sofya A, Kadyshev, Vitaly V, Sukhanova, Natella V, Viakhireva, Iuliia V, Filatova, Alexandra Yu, Zhurkova, Natalia V, Sparber, Peter A, Marakhonov, Andrey V, Vasilyeva, Tatyana A, Shchagina, Olga A, Kutsev, Sergey I, Zinchenko, Rena A

“…Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with…”
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Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect by Marakhonov, Andrey V., Brodehl, Andreas, Myasnikov, Roman P., Sparber, Peter A., Kiseleva, Anna V., Kulikova, Olga V., Meshkov, Alexey N., Zharikova, Anastasia A., Koretsky, Serguey N., Kharlap, Maria S., Stanasiuk, Caroline, Mershina, Elena A., Sinitsyn, Valentin E., Shevchenko, Alexey O., Mozheyko, Natalia P., Drapkina, Oksana M., Boytsov, Sergey A., Milting, Hendrik, Skoblov, Mikhail Yu

“…Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES…”
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Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia by Markova, Tatyana V., Kenis, Vladimir M., Melchenko, Evgeniy V., Sparber, Peter A., Petukhova, Marina S., Bychkov, Igor O., Nagornova, Tatyana S., Shatokhina, Olga L., Dadali, Elena L.

“…Introduction. Desbuquois dysplasia is a rare skeletal dysplasia with an autosomal recessive inheritance, resembling to the group of multiple joint…”
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Back Cover, Volume 40, Issue 6 by Marakhonov, Andrey V., Brodehl, Andreas, Myasnikov, Roman P., Sparber, Peter A., Kiseleva, Anna V., Kulikova, Olga V., Meshkov, Alexey N., Zharikova, Anastasia A., Koretsky, Serguey N., Kharlap, Maria S., Stanasiuk, Caroline, Mershina, Elena A., Sinitsyn, Valentin E., Shevchenko, Alexey O., Mozheyko, Natalia P., Drapkina, Oksana M., Boytsov, Sergey A., Milting, Hendrik, Skoblov, Mikhail Yu

“…On the Back Cover: The back‐cover image is based on the Brief Report Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation…”
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