8 research outputs found
Spectrum of Genetic Changes in Patients with Non-Syndromic Hearing Impairment and Extremely High Carrier Frequency of 35delG GJB2 Mutation in Belarus
- Author
- AF Yang
- AL Shanske
- Alena Kushniarevich
- Anastasia Levaya-Smaliak
- Andrey Shymkevich
- CC Mathew
- CG Meyer
- CR Rothrock
- E Wilch
- EA Schon
- Elena Merkulava
- F Denoyelle
- G Lucotte
- G Van Camp
- GE Green
- H Kokotas
- H Kokotas
- H Kokotas
- I Del Castillo
- Iris Schrijver
- J Finsterer
- K Cryns
- L Van Laer
- LU Dzhemileva
- M Bitner-Glindzicz
- M Palmada
- M Rydzanicz
- M Van Oven
- Marina Siniauskaya
- MB Petersen
- N Fischel-Ghodsian
- N Fischel-Ghodsian
- N Hilgert
- Nina Danilenko
- Oleg Davydenko
- Olga Olejnik
- P Gasparini
- P Guastalla
- R Andrews
- R Li
- R Rabionet
- RJ Morell
- RL Snoeckx
- S Abe
- SA Wilcox
- T Antoniadi
- T Toth
- X Estivill
- YK Man
- Publication venue
- Public Library of Science
- Publication date
- 02/05/2012
- Field of study
The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. The single-nucleotide guanine deletion (35delG) of the GJB2 gene coding for connexin 26 was shown to be the main genetic cause of autosomal recessive deafness among Europeans. Here we present the results of the first study of GJB2 and three mitochondrial mutations among two groups of Belarusian inhabitants: native people with normal hearing (757 persons) and 391 young patients with non-syndromic SNHL. We have found an extremely high carrier frequency of 35delG GJB2 mutation in Belarus â5.7%. This point deletion has also been detected in 53% of the patients with SNHL. The 312del14 GJB2 was the second most common mutation in the Belarus patient cohort. Mitochondrial A1555G mt-RNR1 substitution was found in two SNHL patients (0.55%) but none were found in the population cohort. No individuals carried the A7445G mutation of mitochondrial mt-TS1. G7444A as well as T961G substitutions were detected in mitochondrial mt-RNR1 at a rate of about 1% both in the patient and population cohorts. A possible reason for Belarusians having the highest mutation carrier frequency in Europe 35delG is discussed
A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?
- Author
- Bae
- Bai
- Bardien
- Barendregt
- Begg
- Black
- Black
- Bravo
- BrianD Westerberg
- Bykhovskaya
- Chen
- Chinnery
- Dai
- de
- del
- Dzhemileva
- Ealy
- Estivill
- Fischel-Ghodsian
- Forge
- FrederickK Kozak
- Gravina
- Guan
- Halmagyi
- Han
- Hobbie
- Human
- Ishiyama
- Jacobs
- Johnson
- Kato
- Konings
- Li
- Li
- Lu
- LĂ©vĂȘque
- Maniglia
- Men
- Mohr
- Nahili
- Nicolau
- Ogle
- Peng
- Postal
- Prezant
- Qian
- RodrĂguez-Ballesteros
- Rydzanicz
- SanjivK Bhimrao
- Saunders
- Seal
- Tang
- TitusS Ibekwe
- van
- Vivero
- Wang
- Wang
- Wu
- Xuan
- Yao
- Young
- Zhao
- Zheng
- Zhu
- Publication venue
- 'Medknow'
- Publication date
- 01/01/2015
- Field of study
Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
- Author
- A Alvarez
- A Ohtsuka
- AA Osetrova
- Aisen V. Solovyev
- Alexander A. Bondar
- B Balci
- BO Bengtsson
- C Carranza
- C Hamelmann
- CR Rothrock
- D Wattanasirichaigoon
- EA Bliznets
- EA Bliznetz
- EA Bliznetz
- F Denoyelle
- G Lucotte
- H Belguith
- H Kokotas
- H Kokotas
- H Shahin
- I Lazaridis
- Igor V. Morozov
- IM Khidiiatova
- K Storm
- L Excoffier
- L Van Laer
- LU Dzhemileva
- LU Dzhemileva
- M RamShankar
- M Tekin
- M Tekin
- Marina V. Zytsar
- Marita S. Bady-Khoo
- MM Carrasquillo
- MR Lalaiants
- N Mahdieh
- N Risch
- NA Barashkov
- NE Petrina
- Nikolay A. Barashkov
- Nina G. Danilenko
- O Abidi
- O Posukh
- OA Shubina-Olejnik
- Olga A. Shubina-Olejnik
- Olga L. Posukh
- P Gasparini
- PD Stenson
- R Teek
- RA Shokarev
- RA Zinchenko
- RJ Morell
- SG Zhuravskiy
- TG Markova
- TG Markova
- V Norouzi
- Valeriia Yu. Danilchenko
- Vladimir N. Maximov
- XZ Liu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence
- Author
- A Torroni
- A Torroni
- Anda VÄ«ksna
- BJ Scrimshaw
- C Lanvers-Kaminsky
- D Thyagarajan
- E Selimoglu
- E Zimmerman
- Egija Zole
- G Matthijs
- G Xing
- H Zhao
- HY Tang
- J Finsterer
- J Lu
- J Lu
- JM Barbarino
- K Higashi
- L Pliss
- Lauma Veidemane
- LP Gravina
- LU Dzhemileva
- M Bauskenieks
- M Ealy
- M Jiang
- M Kester
- M Oven Van
- M Postal
- M Rydzanicz
- M Rydzanicz
- MJ Landrum
- MM Cohen
- MX Guan
- O Bravo
- P Duggal
- R Li
- R Turchetta
- Renate Ranka
- RM Alves
- S Han
- S Rahman
- S Usami
- S Usami
- T Yano
- TR Prezant
- TS Ibekwe
- V Guaran
- Valentina Capligina
- Viktorija Igumnova
- WE Heck
- WHO.
- World Health Organization (WHO)
- Z Li
- Z Ying
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Natural compounds with bis-methylene-interrupted Z-double bonds: plant sources, strategies of total synthesis, biological activity, and perspectives
- Author
- A Behr
- A Bermejo
- A Dasgupta
- A Frank
- A Qureshi
- A Siddiq
- AB Imbs
- AM Mayer
- BA Kulkarni
- C Bailly
- C Djerassi
- C Gleye
- C Gleye
- C Litchfield
- C Litchfield
- CP Asselineau
- CP Asselineau
- D Listunov
- D Raederstorff
- D Tasdemir
- DM Hodgson
- DS No
- E Ayanoglu
- E Negishi
- ED Reyes
- F Destaillats
- F Destaillats
- FD Gunstone
- G Asset
- G Barnathan
- G Barnathan
- G Barnathan
- GA Abakumov
- GJ Blomquist
- H Aurelle
- H Gross
- H Kawashima
- H Kawashima
- H Kawashima
- H Kawashima
- H Kawashima
- H Kikuchi
- I Andelic
- I Liblikas
- J Adrian
- J Adrian
- J Adrian
- J Schrader
- JL Nitiss
- JL Nitiss
- JS Dickschat
- K Xie
- L Vinciguerra
- L Zeng
- LT Chuang
- LU Dzhemileva
- LU Dzhemileva
- LU Dzhemileva
- LU Dzhemileva
- M Izumi
- M Jacobson
- M Takagi
- MC GonzĂĄlez
- MC Zafra-Polo
- MV Vysotskii
- N Murakami
- N Van Bac
- NH Oberlies
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NM Carballeira
- NV Zhukova
- PD Kiser
- PL Mena
- R Brookmeyer
- R Zadernowski
- RA Kunkalkar
- RD Walkup
- RJ Anderson
- RL Wolff
- RV Madrigal
- RW Morales
- S Aoki
- S Aoki
- S Aoki
- S Hahn
- S Matsumoto
- S Vinothkumar
- SA Rodâkina
- SJ Chen
- SJ Seybold
- SV Kelkar
- SZ Moghadamtousi
- T Gallardo
- T Hosoe
- T Nemoto
- T Rezanka
- T Rezanka
- T Rezanka
- T Takagi
- T Tanaka
- T Tonoi
- T Tonoi
- TK Li
- TN Makarieva
- UM Dzhemilev
- UM Dzhemilev
- UM Dzhemilev
- UM Dzhemilev
- UM Dzhemilev
- V Bezuglov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VA Dâyakonov
- VI Deineka
- VM Dembitsky
- VM Dembitsky
- VM Dembitsky
- VĐ Dâyakonov
- VĐ Dâyakonov
- VĐ Dâyakonov
- WS Leal
- WW Christie
- X Liang
- Y Ando
- Y Pommier
- Y Pommier
- Y Pommier
- YA Barde
- YG Joh
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss
- Author
- A Kenneson
- A Yilmaz
- AA Dror
- AL Mehl
- CC Morton
- D Yan
- DK Chan
- Dongmei Sun
- EJ Propst
- FF Zhao
- G Khandelwal
- G Lucotte
- GZ Shi
- HJ Park
- HL Hwa
- I del Castillo
- J Yao
- Jing Zheng
- K Cryns
- K Tsukada
- Klaus Brusgaard
- KY Lee
- L Bason
- LU Dzhemileva
- M Palmada
- M RamShankar
- M Tekin
- Min-Xin Guan
- N Hilgert
- P Dai
- PM Kelley
- R Li
- RF Mueller
- RJ Morell
- RL Santos
- S Ortolano
- S Usami
- SH Han
- SY Kim
- T Oguchi
- Ting Zhang
- X Estivill
- XZ Liu
- Y Bajaj
- Y Yuan
- YC Wang
- Ye Chen
- Yi Zhu
- Yinglong Gao
- Z Shen
- Zhaoyang Cai
- Zhengbiao Ying
- Zheyun He
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)
- Author
- A Ohtsuka
- A Pandya
- A Pollak
- A Sirmaci
- Adyum M. Rafailov
- AF Roux
- Aisen V. Solovyev
- Alexander A. Bondar
- Anatoliy N. Alekseev
- Andrey A. Kozhevnikov
- AO Lasisi
- AR Janecke
- B Davarnia
- C Carranza
- C HĐ°melmann
- C LazÄr
- C Paz-y-Miño
- C Simpson
- CA Oliveira
- CG Meyer
- CĐĄ Morton
- D Vuckovic
- D Wattanasirichaigoon
- D Yan
- DK Chan
- DP Kelsell
- DP Popova
- E Gallant
- EA Bliznets
- Elena V. Kirillina
- Elvira E. Fedotova
- Elza K. Khusnutdinova
- F Cordeiro-Silva Mde
- F Denoyelle
- FB Piel
- Fedor M. Teryutin
- G MinĂĄrik
- G Siem
- GE Green
- Georgii P. Romanov
- H Najmabadi
- H Shahin
- HH Dahl
- HJ Park
- I SansoviÄ
- Igor V. Morozov
- J Bosch
- J Shan
- JE Common
- K Frei
- K GrĂžnskov
- K Tsukada
- K Tsukada
- L Cifuentes
- L Trotta
- L Van Laer
- L Zelante
- Lena M. VasilyevĐ°
- Leonid A. Klarov
- Lilya U. Dzhemileva
- LP Gravina
- LU Dzhemileva
- M Amorini
- M de la Luz Arenas-Sordo
- M RamShankar
- M Tekin
- M Tekin
- MH Al-Qahtani
- Mikhail I. Tomsky
- MJ Bonyadi
- ML Tamayo
- MR Lalaiants
- N Bazazzadegan
- N Danilenko
- NA Barashkov
- NA Barashkov
- NA Barashkov
- Natalya A. SolovyevĐ°
- Nikolay A. Barashkov
- Nikolay N. Sazonov
- NM Gasmelseed
- Nyurgun N. Gotovtsev
- O Abidi
- O Posukh
- O Ć terna
- Oksana G. Sidorova
- Olga L. Posukh
- P D'Adamo
- P Dai
- P HomĂže
- P Kelley
- P Seeman
- P Seeman
- PD Stenson
- PI Carlsson
- R Rabionet
- R Teek
- RI Kabahuma
- RL Snoeckx
- RL Snoeckx
- RS Mani
- S Abe
- S Kupka
- SA Zainal
- Sardana A. Fedorova
- Sardana K. Kononova
- SY Kim
- Sylvie Mazoyer
- T Antoniadi
- T Chen
- T Kudo
- T Löppönen
- T TĂłth
- TD Matos
- V DalamĂłn
- Vera G. Pshennikova
- X Estivill
- XZ Liu
- Y Bajaj
- YK Man
- Z Riahi
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
Nickel, palladium and platinum, survey covering the years 1984 and 1985
- Author
- Abakumov
- Abakumov
- Abakumov
- Abakumov
- Abatjoglu
- Abel
- Abel
- Abel
- Abicht
- Abicht
- Abicht
- Abicht
- Abilov
- Abilov
- Abramova
- Abramova
- Abubakirov
- Abubakirov
- Achab
- Adams
- Adams
- Adams
- Adams
- Adams
- Adams
- Afzal
- Agbossou
- Ahmad
- Ahmar
- Ahmar
- Aitio
- Akemark
- Akermark
- Akermark
- Akita
- Akpan
- Al Takhin
- Al-Najjar
- Al-Najjar
- Al-Resayes
- Al-Resayes
- Albano
- Albert
- Albinati
- Albinati
- Albinati
- Albinati
- Albinati
- Albinati
- Albinati
- Albinati
- Alcock
- Alekseev
- Alekseev
- Alessio
- Alhaider
- Ali
- Ali
- Alibrandi
- Alibrandi
- Alibrandi
- Allen
- Almlöf
- Alper
- Alper
- Alper
- Alper
- Alper
- Alper
- Alper
- Alper
- Alper
- Alper
- Alper
- Alyea
- Amari
- Ambartsumyan
- Ames
- Ames
- Amir-Ebrahimii
- Andari
- Andari
- Anderson
- Anderson
- Anderson
- Anderson
- Anderson
- Anderson
- Anderson
- Anderson
- Andersson
- Andrews
- Andrews
- Andrews
- Andrews
- Andrews
- Andrews
- Andréa
- Anton
- Antonova
- Antonova
- Antonova
- Antonova
- Antonsson
- Appel
- Appel
- Appleton
- Aquilera
- Araki
- Arcadi
- Arkles
- Arlen
- Arnold
- Arnold
- Arnold
- Arrigoni
- Arzoumanian
- Arzoumanian
- Asfour
- Ashmawy
- Ashmawy
- Au
- Auburn
- Auffret
- Aullo
- Aullo
- Avshu
- Awang
- Azam
- Azam
- Azam
- Azizov
- Azizov
- Baev
- Bailey
- Baird
- Baker
- Baker
- Bakthavachalam
- Balch
- Balch
- Balch
- Baldwin
- Baldwin
- Balme
- Bandyopadhyay
- Barabotti
- Baralt
- Bardi
- Barefield
- Bargar
- Barr
- Barr
- Bars
- Bartik
- Bartik
- Bartik
- Bartik
- Bartik
- Bartik
- Bartsch
- Basato
- Basato
- Basch
- Bashilov
- Bashilov
- Bashilov
- Basu
- Batstone-Cunningham
- Battistini
- Baudler
- Baudler
- Baumgart
- Baumgartner
- Bauwe
- Bauwe
- Bavoso
- Beach
- Beck
- Beck
- Behr
- Behr
- Behr
- Behr
- Behr
- Behr
- Behr
- Behr
- Behr
- Bekturov
- Bell
- Belousov
- Belov
- Belov
- Belyakova
- Belyakova
- Belyi
- Belyi
- Bencini
- Bender
- Bender
- Bender
- Benkeser
- Benn
- Benn
- Benn
- Benn
- Benn
- Bennett
- Bennett
- Bennett
- Bennett
- Berenblyum
- Berenblyum
- Berenblyum
- Berger
- Berger
- Bergstrom
- Berris
- Berry
- Bertani
- Bertani
- Bestmann
- Beswick
- Bhadhuri
- Bhadhuri
- Bhadhuri
- Bhattacharya
- Bianchini
- Bianchini
- Bianchini
- Bianchini
- Bianchini
- Bianchini
- Bianchini
- Bianchini
- Bieg
- Bignozzi
- Biketova
- Billington
- Binger
- Binger
- Binger
- Binger
- Binger
- Binger
- Binger
- Bisi-Castellani
- Björkling
- Blagg
- Blandamer
- Blau
- Blau
- Blomberg
- Bocelli
- Bocelli
- Bochkarev
- Bodurow
- Bodurow
- Boennemann
- Bogatova
- Bogatova
- Bogdanovic
- Boger
- Boger
- Boldrini
- Bolinger
- Bond
- Bontempelli
- Bontempelli
- Bontempelli
- Boron-Rettore
- Borsub
- Bortnikov
- Bortolin
- Borunova
- Borunova
- Boyter
- Brainard
- Brandes
- Brauer
- Brauer
- Braunstein
- Braunstein
- Braunstein
- Braunstein
- Braunstein
- Braunstein
- Bressan
- Brezina
- Brezinski
- Briant
- Briant
- Briant
- Briant
- Brill
- Broadhurst
- Brossas
- Brovko
- Brown
- Brown
- Brown
- Brown
- Brown
- Brown
- Browning
- Bruce
- Bruce
- Brun
- Brun
- Brune
- Brune
- Brune
- Brune
- Brune
- Brune
- Brune
- Brunner
- Brunner
- Brunner
- Brunner
- Bryndza
- Bryndza
- Bryndza
- Bryndza
- Bryndza
- Bryndza
- Budantseva
- Budzelaar
- Budzelaar
- Bulgakov
- Bulgakov
- Bullett
- Bulot
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bumagin
- Bunel
- Buono
- Burgess
- Burova
- Burrington
- Burton
- Butufei
- Byers
- Byrom
- Byström
- BĂ€ckvall
- BĂ€ckvall
- BĂ€ckvall
- BĂ€ckvall
- BĂ€ckvall
- BĂ€ckvall
- BĂ€ckvall
- Böhm
- Böhm
- BĂŒch
- BĂŒch
- Cacchi
- Cacchi
- Cacchi
- Cacchi
- Cacchi
- Cacchi
- Calderazzo
- Calligaro
- Calvet
- Cameron
- Campagnaro
- Campbell
- Camps
- Canoira
- Canovese
- Canty
- Canziani
- Capka
- Capka
- Capka
- Caporusso
- Cardellicchio
- Carlton
- Carmona
- Carmona
- Carmona
- Carmona
- Carpita
- Carpita
- Carpita
- Carpita
- Carpita
- Carpita
- Carr
- Carr
- Carr
- Carraher
- Carriedo
- Carriedo
- Carvajal
- Caspar
- Castan
- Castiglioni
- Castiglioni
- Catellani
- Catellani
- Catellani
- Catellani
- Catellani
- Catellani
- Cavinato
- Cecconi
- Ceder
- Ceder
- Cenini
- Ceriotti
- Ceriotti
- Ceriotti
- Ceriotti
- Ceriotti
- Ceriotti
- Ceriotti
- Ceriotti
- Cetinkaya
- Chan
- Chang
- Chang
- Chassot
- Chatani
- Chatterjee
- Chatterjee
- Chauvet
- Che
- Chekurovskaya
- Chen
- Chen
- Chen
- Chen
- Chen
- Chen
- Chenard
- Cherkashin
- Cherkashin
- Cherkashin
- Cherkashin
- Chernyshev
- Chernyshev
- Chernyshev
- Chesters
- Chiba
- Chiesa
- Chistovalova
- Chistovalova
- Chiusoli
- Chiusoli
- Chiusoli
- Chiusoli
- Chiusoli
- Choudary
- Chu
- Chujo
- Chung
- Ciajolo
- Citterio
- Citterio
- Clark
- Clark
- Clark
- Clark
- Clark
- Clark
- Clark
- Clark
- Clark
- Clarke
- Clerk
- Coates
- Coffen
- Coffen
- Colas
- Colborn
- Colbran
- Collman
- Colobert
- Colquhoun
- Consiglio
- Constable
- Contreras
- Conway
- Conway
- Conzelmann
- Cooper
- Corain
- Corcoran
- Corey
- Corey
- Corey
- Coronas
- Corriu
- Costa
- Couture
- Couture
- Cowley
- Cowley
- Crespo
- Crisp
- Crisp
- Crociani
- Crociani
- Crociani
- Crociani
- Cross
- Cross
- Cross
- Cross
- Cross
- Crossley
- Cum
- Curzon
- Cuvigny
- Dai
- Daly
- Daniewski
- Danishefsky
- Darensbourg
- Dash
- Dash
- Davidson
- Davis
- Davison
- Davison
- Dawans
- de Bellis
- De Felice
- de Felice
- De Renzi
- de Renzi
- de Souza Barboza
- Deacon
- Deardorff
- Deiko
- del Rosario
- Delaet
- Dell'Amico
- Dell'Amico
- Dell'Amico
- Delogu
- Deng
- Denis
- Deppisch
- der Heyde
- Des Abbayes
- Devekki
- Devekki
- Di Vaira
- Dieck
- Diercks
- Diercks
- Diercks
- Diercks
- Diercks
- Diercks
- Dieter
- Dimitrov
- Ding
- Dinjus
- Dinjus
- Dinjus
- Dinulescu
- Diversi
- Djahanbini
- Djahanbini
- Dmitrieva
- Dmitrieva
- Doh
- Dolgoplosk
- Dolgoplosk
- Doménech
- Donaldson
- Donaldson
- Doyle
- Doyle
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- Drahnak
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