Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Y Kaplan; I Vargel; T Kansu; B Akin; E Rohmann; S Kamaci; E Uz; T Ozcelik; B Wollnik; N A Akarsu

doi:10.1136/bjo.2007.128157

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Original Article

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

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	Abstract	Full	Pdf
Oct 2007	7	0	16
Nov 2007	10	0	26
Dec 2007	20	4	21
Jan 2008	34	29	63
Feb 2008	11	17	20
Mar 2008	11	11	9
Apr 2008	17	11	7
May 2008	32	5	13
Jun 2008	21	8	9
Jul 2008	12	9	5
Aug 2008	12	7	8
Sep 2008	16	5	3
Oct 2008	11	5	4
Nov 2008	14	3	3
Dec 2008	20	2	3
Jan 2009	20	7	8
Feb 2009	16	6	7
Mar 2009	14	1	1
Apr 2009	9	10	6
May 2009	16	8	7
Jun 2009	20	5	5
Jul 2009	14	8	4
Aug 2009	3	2	2
Sep 2009	12	1	5
Oct 2009	4	8	7
Nov 2009	10	0	2
Dec 2009	17	2	4
Jan 2010	14	1	1
Feb 2010	11	2	6
Mar 2010	5	4	5
Apr 2010	9	3	2
May 2010	11	2	2
Jun 2010	20	1	3
Jul 2010	14	1	4
Aug 2010	10	3	2
Sep 2010	17	12	6
Oct 2010	42	7	1
Nov 2010	26	4	2
Dec 2010	14	11	4
Jan 2011	13	1	5
Feb 2011	23	4	5
Mar 2011	37	15	5
Apr 2011	17	28	0
May 2011	25	13	4
Jun 2011	12	1	1
Jul 2011	39	9	5
Aug 2011	31	2	1
Sep 2011	15	1	1
Oct 2011	26	3	4
Nov 2011	298	122	129
Dec 2011	78	8	0
Jan 2012	32	8	4
Feb 2012	57	9	17
Mar 2012	310	79	136
Apr 2012	45	2	4
May 2012	37	9	1
Jun 2012	13	6	2
Jul 2012	18	1	2
Aug 2012	25	5	4
Sep 2012	33	3	0
Oct 2012	43	34	2
Nov 2012	34	1	2
Dec 2012	20	0	0
Jan 2013	20	1	3
Feb 2013	22	1	5
Mar 2013	21	2	2
Apr 2013	16	3	5
May 2013	19	2	0
Jun 2013	14	0	0
Jul 2013	10	1	4
Aug 2013	4	6	2
Sep 2013	9	6	2
Oct 2013	5	16	1
Nov 2013	9	4	2
Dec 2013	7	3	1
Jan 2014	20	1	1
Feb 2014	9	1	1
Mar 2014	17	0	0
Apr 2014	16	4	7
May 2014	21	4	2
Jun 2014	9	0	0
Jul 2014	22	3	1
Aug 2014	10	0	0
Sep 2014	11	2	0
Oct 2014	12	2	0
Nov 2014	14	0	0
Dec 2014	23	1	0
Jan 2015	30	0	3
Feb 2015	6	1	1
Mar 2015	16	0	0
Apr 2015	4	1	1
May 2015	12	3	3
Jun 2015	11	0	0
Jul 2015	7	1	1
Aug 2015	11	0	0
Sep 2015	16	1	0
Oct 2015	10	0	0
Nov 2015	18	0	0
Dec 2015	18	0	1
Jan 2016	15	4	5
Feb 2016	11	0	0
Mar 2016	10	2	0
Apr 2016	11	0	0
May 2016	12	2	0
Jun 2016	4	0	0
Jul 2016	20	0	0
Aug 2016	17	1	2
Sep 2016	26	0	0
Oct 2016	18	1	2
Nov 2016	12	2	1
Dec 2016	12	0	0
Jan 2017	7	1	1
Feb 2017	10	0	0
Mar 2017	21	0	0
Apr 2017	11	1	0
May 2017	15	1	0
Jun 2017	15	0	1
Jul 2017	32	0	0
Aug 2017	38	1	1
Sep 2017	103	2	1
Oct 2017	231	0	0
Nov 2017	120	15	3
Dec 2017	105	24	0
Jan 2018	83	17	2
Feb 2018	82	17	0
Mar 2018	84	18	1
Apr 2018	63	19	4
May 2018	52	13	1
Jun 2018	60	18	0
Jul 2018	48	18	0
Aug 2018	59	19	4
Sep 2018	38	24	0
Oct 2018	55	17	0
Nov 2018	49	13	0
Dec 2018	58	17	2
Jan 2019	44	12	0
Feb 2019	69	19	5
Mar 2019	38	9	1
Apr 2019	18	7	0
May 2019	22	14	1
Jun 2019	43	23	0
Jul 2019	55	21	1
Aug 2019	56	20	2
Sep 2019	36	14	0
Oct 2019	24	12	0
Nov 2019	34	15	0
Dec 2019	26	12	0
Jan 2020	33	13	1
Feb 2020	29	18	0
Mar 2020	24	12	0
Apr 2020	38	15	1
May 2020	39	18	0
Jun 2020	32	14	0
Jul 2020	37	13	0
Aug 2020	29	14	1
Sep 2020	45	12	0
Oct 2020	34	14	2
Nov 2020	27	2	0
Dec 2020	35	1	0
Jan 2021	31	2	2
Feb 2021	31	1	0
Mar 2021	36	0	0
Apr 2021	10	0	0
May 2021	4	1	0
Jul 2021	1	0	0
Aug 2021	0	2	0
Sep 2021	2	0	0
Oct 2021	52	3	2
Nov 2021	49	1	0
Dec 2021	28	0	1
Jan 2022	46	0	0
Feb 2022	66	2	1
Mar 2022	52	0	0
Apr 2022	46	0	0
May 2022	37	3	2
Jun 2022	45	2	0
Jul 2022	27	3	3
Aug 2022	80	3	1
Sep 2022	64	2	1
Oct 2022	68	4	4
Nov 2022	48	5	0
Dec 2022	22	1	0
Jan 2023	23	1	1
Feb 2023	40	0	0
Total	5758	1286	753

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