Literature DB >> 15612572

[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)].

L A Tarskaia, R A Zinchenko, G I El'chinova, A G Egorova, M N Korotov, E V Basova, A M Prokop'eva, E N Sivtseva, E E Nikolaeva, E S Banshchinkova, M V Samarkina, G I Danilova, A F Zhelobtsova, A P Danilova, G N Popova.   

Abstract

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.

Entities:  

Mesh:

Year:  2004        PMID: 15612572

Source DB:  PubMed          Journal:  Genetika        ISSN: 0016-6758


  7 in total

1.  Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Authors:  N Maksimova; K Hara; A Miyashia; I Nikolaeva; A Shiga; A Nogovicina; A Sukhomyasova; V Argunov; A Shvedova; T Ikeuchi; M Nishizawa; R Kuwano; O Onodera
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

2.  An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.

Authors:  Daniel Quiat; Seong Won Kim; Qi Zhang; Sarah U Morton; Alexandre C Pereira; Steven R DePalma; Jon A L Willcox; Barbara McDonough; Daniel M DeLaughter; Joshua M Gorham; Justin J Curran; Melissa Tumblin; Yamileth Nicolau; Maria A Artunduaga; Lourdes Quintanilla-Dieck; Gabriel Osorno; Luis Serrano; Usama Hamdan; Roland D Eavey; Christine E Seidman; J G Seidman
Journal:  Proc Natl Acad Sci U S A       Date:  2022-05-18       Impact factor: 12.779

3.  Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

Authors:  Nadezda Maksimova; Kenju Hara; Irina Nikolaeva; Tan Chun-Feng; Tomoaki Usui; Mineo Takagi; Yasushi Nishihira; Akinori Miyashita; Hiroshi Fujiwara; Tokuhide Oyama; Anna Nogovicina; Aitalina Sukhomyasova; Svetlana Potapova; Ryozo Kuwano; Hitoshi Takahashi; Masatoyo Nishizawa; Osamu Onodera
Journal:  J Med Genet       Date:  2010-06-24       Impact factor: 6.318

Review 4.  Mucopolysaccharidosis-Plus Syndrome.

Authors:  Filipp Vasilev; Aitalina Sukhomyasova; Takanobu Otomo
Journal:  Int J Mol Sci       Date:  2020-01-09       Impact factor: 5.923

5.  A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia.

Authors:  Georgii P Romanov; Vera G Pshennikova; Sergey A Lashin; Aisen V Solovyev; Fedor M Teryutin; Aleksandra M Cherdonova; Tuyara V Borisova; Nikolay N Sazonov; Elza K Khusnutdinova; Olga L Posukh; Sardana A Fedorova; Nikolay A Barashkov
Journal:  PLoS One       Date:  2020-11-30       Impact factor: 3.240

6.  Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.

Authors:  Patryk Lipiński; Krzysztof Szczałuba; Piotr Buda; Ekaterina Y Zakharova; Galina Baydakova; Agnieszka Ługowska; Agnieszka Różdzyńska-Świątkowska; Zuzanna Cyske; Grzegorz Węgrzyn; Agnieszka Pollak; Rafał Płoski; Anna Tylki-Szymańska
Journal:  Int J Mol Sci       Date:  2022-09-28       Impact factor: 6.208

Review 7.  Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child.

Authors:  Martha Caterina Faraguna; Francesca Musto; Viola Crescitelli; Maria Iascone; Luigina Spaccini; Davide Tonduti; Tiziana Fedeli; Gaia Kullmann; Francesco Canonico; Alessandro Cattoni; Fabiola Dell'Acqua; Carmelo Rizzari; Serena Gasperini
Journal:  Genes (Basel)       Date:  2022-02-28       Impact factor: 4.096

  7 in total

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