All individuals with variants in gene MYO7A

1385 entries on 14 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00003005 - PubMed: Neveling 2013 - - - - - - - - - ? progressive, postlingual hearing loss 1 1 Marcel Nelen
00034514 - PubMed: Wang 2011, Journal: Wang 2011 5-generation consanguineous family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/sibs - yes Saudi Arabia - - - - - LCA LCA, poor vision since birth, nystagmus, neuroepithelial atrophy, nonrecordable ERGs; no hearing loss 1 4 Xia Wang
00059026 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Jewish-Ashkenazi - - - - DFNA11 postlingual onset, ~5y, profound by age 12; also myopia 1 3 Zippi Brownstein
00059158 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059166 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 2 1 Manou Sommen
00059167 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059168 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 2 1 Manou Sommen
00059169 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 2 1 Manou Sommen
00059170 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059171 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059172 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00059173 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 2 1 Manou Sommen
00059174 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00060231 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Israel Uzbekistan;Jewish - - - - DFNB2 Congenital, severe HL 1 1 Zippi Brownstein
00060232 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Israel Turkey;Jewish - - - - DFNB2 Congenital, moderate HL 2 1 Zippi Brownstein
00060237 - PubMed: Brownstein 2014, Journal: Brownstein 2014 digenic inheritance DFNB2/DFNB23 - no Israel Jewish-Ashkenazi - - - - DFNB2 di-genic inheritance; congenital, profound 1 1 Zippi Brownstein
00060238 - PubMed: Brownstein 2014, Journal: Brownstein 2014 - - no Israel Jewish-Ashkenazi - - - - DFNB2 Congenital profound HL 2 1 Zippi Brownstein
00060289 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Israel Arab, Palestinian - - - - DFNB2 congenital, NSHL 1 1 Johan den Dunnen
00060290 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes Israel Arab, Palestinian - - - - DFNB2 congenital, NSHL 1 3 Johan den Dunnen
00060291 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M yes Israel Arab, Palestinian - - - - DFNB2 congenital, NSHL 1 2 Johan den Dunnen
00060293 - PubMed: Brownstein 2014, Journal: Brownstein 2014 310 controls - - Israel - - - - - Healthy/Control - 1 2 Johan den Dunnen
00080002 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080006 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080011 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080029 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 3 1 Mieke Wesdorp
00080044 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080054 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080138 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080830 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - USH1 Usher syndrome, type 1B (OMIM:276900) 1 1 Daniel Trujillano
00080904 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - USH1 Usher syndrome, type 1B (OMIM:276900) 1 1 Daniel Trujillano
00155497 - Sharon, submitted - F yes Israel Morocco;Jewish - - - - USH1 - 1 1 Dror Sharon
00155498 - Sharon, submitted - M no Israel Morocco;Jewish - - - - USH1 - 2 1 Dror Sharon
00155499 - Sharon, submitted - F yes Israel Arab-Muslim - - - - USH1 - 1 3 Dror Sharon
00155500 - Sharon, submitted - M yes Israel Arab-Muslim - - - - USH1 - 1 1 Dror Sharon
00155501 - Sharon, submitted - F no Israel Arab-Muslim - - - - USH1 - 1 2 Dror Sharon
00155502 - Sharon, submitted - M yes Israel Arab-Muslim - - - - USH1 - 1 3 Dror Sharon
00155503 - Sharon, submitted - F yes Israel Arab-Muslim - - - - USH1 - 1 3 Dror Sharon
00155504 - Sharon, submitted - F yes Israel Samaritans - - - - USH1 - 1 1 Dror Sharon
00155505 - Sharon, submitted - F yes Israel African-N;Jewish - - - - USH1 - 1 2 Dror Sharon
00165703 - PubMed: Aparisi 2014 Proband M - Spain - - - - - USH1 - 12 1 Jose Maria Millan
00166516 - PubMed: Saihan 2011 Proband F - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 Maria Bitner-Glindzicz
00166518 - PubMed: Bonnet 2011 Proband F - - - - - - - USH1 - 2 1 Anne-Françoise Roux
00166519 - PubMed: Bonnet 2011 Proband F - - - - - - - USH1 - 2 1 Anne-Françoise Roux
00166520 - PubMed: Bonnet 2011 Proband M - - - - - - - USH1 - 2 1 Anne-Françoise Roux
00166591 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 3 1 Maria Bitner-Glindzicz
00166595 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166596 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166597 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 4 1 Maria Bitner-Glindzicz
00166598 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166599 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166600 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 7 1 Maria Bitner-Glindzicz
00166601 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 2 1 Maria Bitner-Glindzicz
00166602 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH3 - 1 1 Maria Bitner-Glindzicz
00166606 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166607 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166608 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166609 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 5 1 Maria Bitner-Glindzicz
00166611 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 11 1 Maria Bitner-Glindzicz
00166612 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH3 - 1 1 Maria Bitner-Glindzicz
00166614 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 9 1 Maria Bitner-Glindzicz
00166616 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 4 1 Maria Bitner-Glindzicz
00166617 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166619 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 3 1 Maria Bitner-Glindzicz
00166620 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166621 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166624 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH - 2 1 Maria Bitner-Glindzicz
00166625 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 1 1 Maria Bitner-Glindzicz
00166626 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166627 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 4 1 Maria Bitner-Glindzicz
00166628 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 4 1 Maria Bitner-Glindzicz
00166629 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 2 1 Maria Bitner-Glindzicz
00166631 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH - 6 1 Maria Bitner-Glindzicz
00166632 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166633 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166634 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 1 1 Maria Bitner-Glindzicz
00166636 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166638 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166640 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 6 1 Maria Bitner-Glindzicz
00166641 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166647 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166648 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166650 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166652 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166653 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166654 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166657 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166658 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH - 3 1 Maria Bitner-Glindzicz
00166659 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166662 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 5 1 Maria Bitner-Glindzicz
00166663 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 5 1 Maria Bitner-Glindzicz
00166666 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166667 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166668 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH1 - 2 1 Maria Bitner-Glindzicz
00166669 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166670 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166672 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
00166674 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 2 1 Maria Bitner-Glindzicz
00166675 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 6 1 Maria Bitner-Glindzicz
00166676 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - USH2 - 1 1 Maria Bitner-Glindzicz
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