Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

J Dai; O-H Kim; T-J Cho; M Schmidt-Rimpler; H Tonoki; K Takikawa; N Haga; K Miyoshi; H Kitoh; W-J Yoo; I-H Choi; H-R Song; D-K Jin; H-T Kim; H Kamasaki; P Bianchi; G Grigelioniene; S Nampoothiri; M Minagawa; S-i Miyagawa; T Fukao; C Marcelis; M C E Jansweijer; R C M Hennekam; F Bedeschi; A Mustonen; Q Jiang; H Ohashi; T Furuichi; S Unger; B Zabel; E Lausch; A Superti-Furga; G Nishimura; S Ikegawa

doi:10.1136/jmg.2009.075358

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

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	Abstract	Full	Pdf
Jun 2010	71	15	24
Jul 2010	175	12	56
Aug 2010	341	220	81
Sep 2010	454	379	170
Oct 2010	469	295	157
Nov 2010	70	45	29
Dec 2010	39	33	25
Jan 2011	60	33	19
Feb 2011	54	34	24
Mar 2011	58	32	19
Apr 2011	42	34	21
May 2011	61	32	18
Jun 2011	83	33	26
Jul 2011	58	24	16
Aug 2011	57	19	9
Sep 2011	42	27	14
Oct 2011	62	25	9
Nov 2011	50	14	8
Dec 2011	40	29	21
Jan 2012	52	25	10
Feb 2012	57	19	10
Mar 2012	81	25	14
Apr 2012	68	1	3
May 2012	95	11	5
Jun 2012	73	12	4
Jul 2012	57	24	14
Aug 2012	42	23	12
Sep 2012	33	10	6
Oct 2012	78	15	8
Nov 2012	61	21	12
Dec 2012	26	10	8
Jan 2013	33	5	5
Feb 2013	28	10	9
Mar 2013	32	11	7
Apr 2013	26	2	3
May 2013	31	17	12
Jun 2013	20	5	13
Jul 2013	11	9	7
Aug 2013	22	3	3
Sep 2013	13	8	12
Oct 2013	13	4	5
Nov 2013	13	1	3
Dec 2013	18	5	8
Jan 2014	10	8	6
Feb 2014	21	6	6
Mar 2014	25	3	7
Apr 2014	18	6	4
May 2014	21	10	6
Jun 2014	55	8	5
Jul 2014	12	12	13
Aug 2014	15	12	8
Sep 2014	16	4	6
Oct 2014	5	13	7
Nov 2014	8	6	3
Dec 2014	6	5	4
Jan 2015	13	8	8
Feb 2015	16	4	6
Mar 2015	10	6	7
Apr 2015	18	2	8
May 2015	9	4	4
Jun 2015	8	7	7
Jul 2015	27	9	5
Aug 2015	18	3	2
Sep 2015	18	7	7
Oct 2015	12	1	3
Nov 2015	17	3	6
Dec 2015	19	9	9
Jan 2016	25	6	3
Feb 2016	29	2	2
Mar 2016	12	6	3
Apr 2016	19	2	1
May 2016	28	2	2
Jun 2016	17	6	5
Jul 2016	9	6	3
Aug 2016	15	7	4
Sep 2016	23	7	7
Oct 2016	9	5	3
Nov 2016	13	6	4
Dec 2016	16	5	3
Jan 2017	88	10	7
Feb 2017	63	7	2
Mar 2017	67	18	7
Apr 2017	56	9	7
May 2017	19	10	10
Jun 2017	31	11	6
Jul 2017	57	5	6
Aug 2017	65	11	6
Sep 2017	74	6	3
Oct 2017	66	4	2
Nov 2017	106	10	7
Dec 2017	52	4	1
Jan 2018	71	8	2
Feb 2018	65	9	6
Mar 2018	47	12	6
Apr 2018	88	10	5
May 2018	50	6	4
Jun 2018	71	7	6
Jul 2018	58	8	3
Aug 2018	75	11	13
Sep 2018	49	9	5
Oct 2018	99	10	5
Nov 2018	101	5	1
Dec 2018	99	4	1
Jan 2019	81	5	4
Feb 2019	87	10	5
Mar 2019	38	5	3
Apr 2019	55	4	3
May 2019	101	10	8
Jun 2019	63	7	3
Jul 2019	65	7	1
Aug 2019	86	8	5
Sep 2019	55	6	2
Oct 2019	141	7	3
Nov 2019	50	10	4
Dec 2019	104	20	5
Jan 2020	77	9	3
Feb 2020	68	5	7
Mar 2020	48	6	4
Apr 2020	60	9	7
May 2020	118	9	6
Jun 2020	71	6	3
Jul 2020	51	6	5
Aug 2020	33	4	1
Sep 2020	63	4	3
Oct 2020	124	8	7
Nov 2020	116	4	3
Dec 2020	111	14	10
Jan 2021	144	14	3
Feb 2021	97	8	6
Mar 2021	64	2	1
Apr 2021	70	12	13
May 2021	73	15	7
Jun 2021	15	7	4
Jul 2021	6	4	4
Aug 2021	1	0	0
Sep 2021	2	2	0
Oct 2021	78	4	4
Nov 2021	260	6	9
Dec 2021	167	4	2
Jan 2022	162	9	1
Feb 2022	188	17	16
Mar 2022	263	7	3
Apr 2022	171	8	6
May 2022	129	7	6
Jun 2022	114	5	0
Jul 2022	91	11	7
Aug 2022	98	6	6
Sep 2022	133	6	3
Oct 2022	125	11	3
Nov 2022	115	8	6
Dec 2022	102	9	15
Jan 2023	108	11	4
Feb 2023	74	3	2
Mar 2023	70	10	9
Apr 2023	122	4	4
May 2023	67	6	3
Jun 2023	42	3	7
Jul 2023	91	5	4
Aug 2023	109	10	11
Sep 2023	75	6	5
Oct 2023	86	4	2
Nov 2023	96	10	2
Dec 2023	131	12	14
Jan 2024	79	6	4
Feb 2024	100	15	10
Mar 2024	126	15	7
Total	11408	2516	1565

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