All individuals with variants in gene MYO15A

248 entries on 3 pages. Showing entries 1 - 100.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00002996 - PubMed: Neveling 2013 - - - - - - - - - ? Retinitis pigmentosa (RP) 2 1 Marcel Nelen
00003002 - PubMed: Neveling 2013 - - - - - - - - - ? congenital, severe hearing loss 3 1 Marcel Nelen
00059023 - Karen Avraham lab, Tel Aviv University, unpublished data - - yes Israel Arab - - - - DFNB3 congenital profound hearing loss 1 2 Zippi Brownstein
00059038 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Arab - - - - DFNB3 Congenital, profound hearing loss 1 2 Zippi Brownstein
00059039 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Arab - - - - DFNB3 Congenital, profound hearing loss 1 2 Zippi Brownstein
00059040 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Jewish-Bukharian - - - - DFNB3 Congenital, profound hearing loss 1 2 Zippi Brownstein
00059041 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished 186 controls - - Israel - - - - - Healthy/Control - 1 1 Zippi Brownstein
00059042 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Arab - - - - DFNB3 congenital, profound hearing loss 1 2 Zippi Brownstein
00059132 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059155 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059156 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 3 1 Manou Sommen
00059157 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 3 1 Manou Sommen
00059158 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059159 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 2 1 Manou Sommen
00059160 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 3 1 Manou Sommen
00060233 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Israel Iran;Jewish - - - - DFNB3 Congenital, profound 1 2 Zippi Brownstein
00060235 - PubMed: Brownstein 2011, Journal: Brownstein 2011 - - no Israel Jewish-Ashkenazi - - - - DFNB3 Congenital, profound 2 2 Zippi Brownstein
00060292 - PubMed: Brownstein 2014, Journal: Brownstein 2014 171 controls - - Israel Iran;Jewish - - - - Healthy/Control - 1 2 Zippi Brownstein
00060294 - PubMed: Brownstein 2011, Journal: Brownstein 2011 240 controls - - Israel - - - - - Healthy/Control - 1 3 Johan den Dunnen
00080035 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080038 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 3 1 Mieke Wesdorp
00080041 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080052 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00081020 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - DFNB3 Deafness, autosomal recessive 3 (OMIM:600316) 1 1 Daniel Trujillano
00132291 FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - DFNA see paper; ... 1 8 Hanno Bolz
00154503 - - - M yes Israel - - - - 3 DFNB3 Congenital profound hearing loss 1 1 Nada Danial-Farran
00163216 S1680 PubMed: Baux 2017 proband M - France - - - - - DFNA1 - 1 1 Anne-Françoise Roux
00163511 - PubMed: Liburd et al., 2001 proband - - - - - - - - SMS Smith-Magenis Syndrome presenting hearing loss 2 1 Anne-Françoise Roux
00163512 - PubMed: Kalay et al., 2007 proband F - Turkey - - - - - DFNB - 12 1 Anne-Françoise Roux
00163513 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - France - - - - - USH2 - 2 1 Anne-Françoise Roux
00163514 - PubMed: Brownstein et al., 2011 proband M - Israel - - - - - DFNB - 2 1 Anne-Françoise Roux
00163515 - PubMed: Brownstein et al., 2011 relative M - - - - - - - DFNB - 2 1 Anne-Françoise Roux
00163516 - PubMed: Vozzi 2014 proband M - Qatar - - - - - DFNB - 1 1 Anne-Françoise Roux
00163517 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband M - France - - - - - deafness - 1 1 Anne-Françoise Roux
00163518 - PubMed: Duman et al., 2011 proband - - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163519 - PubMed: Vona et al., 2014 proband M - Germany - - - - - DFNB - 2 1 Anne-Françoise Roux
00163520 - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - DFNB - 2 1 Anne-Françoise Roux
00163521 HLRB3 PubMed: Bashir 2012, PubMed: Naz 2017 family, 3 affected F - Pakistan - - - - - DFNB - 1 3 Anne-Françoise Roux
00163522 - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - DFNB - 2 1 Anne-Françoise Roux
00163523 - PubMed: Miyagawa et al., 2013 relative M - Japan - - - - - DFNB - 2 1 Anne-Françoise Roux
00163524 - - proband M - Israel Palestinian Arab - - - - deafness - 1 1 Daphne Karfunkel
00163525 - PubMed: Brownstein et al., 2014 proband F - Palestine - - - - - DFNB - 2 1 Anne-Françoise Roux
00163526 - PubMed: Brownstein et al., 2014 relative M - Palestine - - - - - DFNB - 2 1 Anne-Françoise Roux
00163527 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - France - - - - - USH1 - 2 1 Anne-Françoise Roux
00163528 - PubMed: Fattahi et al,.2012 - - - Iran sistani (southeastern Iran) - - - - DFNB - 2 1 Anne-Françoise Roux
00163529 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - - - - - - - deafness - 1 1 Anne-Françoise Roux
00163530 - PubMed: Yang et al., 2013 proband - - China - - - - - DFNB - 1 1 Anne-Françoise Roux
00163531 - PubMed: Nal et al., 2007 proband M - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163532 - PubMed: Nal et al., 2007 proband F - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163533 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband M - - - - - - - USH1 - 2 1 Anne-Françoise Roux
00163534 S1670 PubMed: Baux 2017 proband M - France - - - - - DFNB - 2 1 Anne-Françoise Roux
00163535 - PubMed: Woo et al,.2013 proband - - Korea, South (Republic) - - - - - deafness - 2 1 Anne-Françoise Roux
00163536 - PubMed: Liburd et al., 2001 proband F - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163537 - PubMed: Liburd et al., 2001 proband M - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163538 - PubMed: Nal et al., 2007 proband - - India - - - - - DFNB - 1 1 Anne-Françoise Roux
00163539 - PubMed: Nal et al., 2007 proband - - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163540 - PubMed: Shafique et al., 2014 proband F - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163541 - PubMed: Shafique et al., 2014 relative M - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163542 - PubMed: Shafique et al., 2014 relative M - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163543 - PubMed: Shafique et al., 2014 relative F - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163544 - PubMed: Shafique et al., 2014 relative F - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163545 - PubMed: Shafique et al., 2014 relative F - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163546 - PubMed: Shafique et al., 2014 relative M - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163547 - PubMed: Gu, Guo et al., 2014 proband - - China - - - - - DFNB - 2 1 Anne-Françoise Roux
00163548 - PubMed: Nal et al., 2007 proband - - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163549 S1649 PubMed: Baux 2017 proband M - France - - - - - DFNB - 2 1 Anne-Françoise Roux
00163550 - PubMed: Cengiz et al., 2010 proband F - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163551 - PubMed: Brownstein et al., 2011 proband M - Palestine - - - - - DFNB - 1 1 Anne-Françoise Roux
00163552 - PubMed: Brownstein et al., 2011 relative M - Palestine - - - - - DFNB - 1 1 Anne-Françoise Roux
00163553 - PubMed: Brownstein et al., 2011 relative F - Palestine - - - - - DFNB - 1 1 Anne-Françoise Roux
00163554 - PubMed: Diaz-Horta et al., 2012 - - - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163555 - PubMed: Woo et al,.2013 - - - Korea, South (Republic) - - - - - DFNB - 2 1 Anne-Françoise Roux
00163556 - PubMed: Gu, Guo et al., 2014 proband - - China - - - - - DFNB - 2 1 Anne-Françoise Roux
00163557 - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - DFNB - 2 1 Anne-Françoise Roux
00163558 - PubMed: Nal et al., 2007 proband - - India - - - - - DFNB - 1 1 Anne-Françoise Roux
00163559 - PubMed: Cengiz et al., 2010 proband F - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163560 - {PMID20642360 :Cengiz et al,.2010} - - - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163561 - PubMed: Diaz-Horta et al., 2012 - - - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163562 - PubMed: Nal et al., 2007 proband - - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163563 S1523 PubMed: Baux 2017 proband F - France - - - - - DFNB - 2 1 Anne-Françoise Roux
00163565 - PubMed: Fattahi et al,.2012 - - - Iran Kord (western Iran) - - - - DFNB - 1 1 Anne-Françoise Roux
00163566 - PubMed: Belguith et al., 2009 proband F - Tunisia - - - - - DFNB - 1 1 Anne-Françoise Roux
00163567 - PubMed: Nal et al., 2007 proband - - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163568 - PubMed: Nal et al., 2007 proband - - Pakistan - - - - - DFNB - 1 1 Anne-Françoise Roux
00163569 - PubMed: Fattahi et al,.2012 - - - Iran Fars (central Iran) - - - - DFNB - 1 1 Anne-Françoise Roux
00163570 - PubMed: Riahi et al., 2014 proband M - Tunisia - - - - - DFNB - 1 1 Anne-Françoise Roux
00163571 - PubMed: Riahi et al., 2014 relative F - Tunisia - - - - - DFNB - 1 1 Anne-Françoise Roux
00163572 - PubMed: Kalay et al., 2007 proband M - Turkey - - - - - DFNB - 2 1 Anne-Françoise Roux
00163573 - PubMed: Duman et al., 2011 proband - - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163574 - PubMed: Cengiz et al., 2010 proband M - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163575 - PubMed: Cengiz et al., 2010 proband M - Turkey - - - - - DFNB - 1 1 Anne-Françoise Roux
00163576 - PubMed: Fattahi et al,.2012 - - - Iran Azeri (northwestern Iran) - - - - DFNB - 1 1 Anne-Françoise Roux
00163577 - PubMed: Gao et al,.2013 - - - China - - - - - DFNB - 2 1 Anne-Françoise Roux
00163578 - PubMed: Fattahi et al,.2012 - - - Iran Azeri (northwestern Iran) - - - - DFNB - 1 1 Anne-Françoise Roux
00163579 - PubMed: Nal et al., 2007 proband - - Pakistan - - - - - DFNB - 2 1 Anne-Françoise Roux
00163580 - PubMed: Shearer et al., 2009 proband M - Iran - - - - - DFNB - 1 1 Anne-Françoise Roux
00163581 - PubMed: Yang et al., 2013 proband - - China - - - - - DFNB - 2 1 Anne-Françoise Roux
00163582 - PubMed: Wang et al., 1998 proband F - India - - - - - DFNB - 1 1 Anne-Françoise Roux
00163583 - PubMed: Wang et al., 1998 relative M - India - - - - - DFNB - 1 1 Anne-Françoise Roux
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