Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

W Balemans; N Patel; M Ebeling; E Van Hul; W Wuyts; C Lacza; M Dioszegi; F G Dikkers; P Hildering; P J Willems; J B G M Verheij; K Lindpaintner; B Vickery; D Foernzler; W Van Hul

doi:10.1136/jmg.39.2.91

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Original article

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

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	Abstract	Full	Pdf
Feb 2002	21	99	13
Mar 2002	14	83	14
Apr 2002	3	33	3
May 2002	6	34	12
Jun 2002	5	15	8
Jul 2002	1	21	9
Aug 2002	1	17	5
Sep 2002	1	15	10
Oct 2002	1	29	6
Nov 2002	1	11	0
Dec 2002	0	13	5
Jan 2003	2	13	1
Feb 2003	3	11	0
Mar 2003	0	11	5
Apr 2003	2	13	2
May 2003	2	14	5
Jun 2003	1	11	1
Jul 2003	19	50	3
Aug 2003	17	15	4
Sep 2003	20	14	2
Oct 2003	18	43	3
Nov 2003	16	18	2
Dec 2003	16	8	1
Jan 2004	30	30	3
Feb 2004	16	17	3
Mar 2004	33	23	7
Apr 2004	19	11	6
May 2004	46	40	6
Jun 2004	45	61	20
Jul 2004	52	59	16
Aug 2004	39	44	1
Sep 2004	31	45	10
Oct 2004	11	34	9
Nov 2004	18	34	8
Dec 2004	14	33	13
Jan 2005	11	22	8
Feb 2005	11	41	4
Mar 2005	15	25	14
Apr 2005	2	27	22
May 2005	6	19	8
Jun 2005	5	21	3
Jul 2005	9	25	7
Aug 2005	11	64	17
Sep 2005	6	30	19
Oct 2005	9	31	12
Nov 2005	17	20	9
Dec 2005	7	26	4
Jan 2006	7	19	5
Feb 2006	6	24	9
Mar 2006	5	26	4
Apr 2006	8	21	8
May 2006	8	15	7
Jun 2006	10	16	6
Jul 2006	5	18	5
Aug 2006	7	15	5
Sep 2006	4	16	10
Oct 2006	8	21	10
Nov 2006	7	21	11
Dec 2006	4	18	4
Jan 2007	9	24	17
Feb 2007	5	18	6
Mar 2007	6	14	10
Apr 2007	14	3	2
May 2007	16	9	8
Jun 2007	9	8	7
Jul 2007	6	13	7
Aug 2007	9	8	4
Sep 2007	14	14	7
Oct 2007	8	14	9
Nov 2007	12	4	4
Dec 2007	3	7	1
Jan 2008	13	8	4
Feb 2008	12	6	7
Mar 2008	21	7	7
Apr 2008	11	4	3
May 2008	28	4	7
Jun 2008	9	10	8
Jul 2008	15	7	3
Aug 2008	16	10	3
Sep 2008	21	7	6
Oct 2008	30	7	7
Nov 2008	10	3	3
Dec 2008	5	7	5
Jan 2009	13	6	4
Feb 2009	8	3	0
Mar 2009	20	6	7
Apr 2009	15	3	4
May 2009	13	5	6
Jun 2009	6	4	2
Jul 2009	13	2	5
Aug 2009	7	5	3
Sep 2009	7	1	3
Oct 2009	28	4	8
Nov 2009	15	4	6
Dec 2009	14	0	5
Jan 2010	6	3	4
Feb 2010	8	1	4
Mar 2010	15	10	4
Apr 2010	14	1	4
May 2010	5	5	4
Jun 2010	7	3	7
Jul 2010	52	9	7
Aug 2010	25	16	3
Sep 2010	17	8	0
Oct 2010	57	15	10
Nov 2010	45	21	8
Dec 2010	31	16	2
Jan 2011	32	12	4
Feb 2011	39	24	5
Mar 2011	51	19	7
Apr 2011	59	22	8
May 2011	55	11	7
Jun 2011	36	15	2
Jul 2011	47	9	4
Aug 2011	39	6	5
Sep 2011	50	6	3
Oct 2011	40	13	2
Nov 2011	39	27	3
Dec 2011	30	42	7
Jan 2012	32	27	3
Feb 2012	22	30	2
Mar 2012	17	42	5
Apr 2012	13	48	6
May 2012	21	61	10
Jun 2012	13	51	14
Jul 2012	19	67	8
Aug 2012	10	54	12
Sep 2012	27	57	25
Oct 2012	35	48	23
Nov 2012	35	39	9
Dec 2012	14	12	12
Jan 2013	32	23	18
Feb 2013	45	18	15
Mar 2013	31	16	20
Apr 2013	41	24	20
May 2013	31	25	21
Jun 2013	23	13	13
Jul 2013	19	14	12
Aug 2013	21	13	11
Sep 2013	29	6	10
Oct 2013	26	16	8
Nov 2013	21	17	9
Dec 2013	23	15	2
Jan 2014	34	17	9
Feb 2014	25	34	12
Mar 2014	22	33	13
Apr 2014	23	27	16
May 2014	33	34	11
Jun 2014	28	41	7
Jul 2014	27	25	6
Aug 2014	16	16	7
Sep 2014	26	14	8
Oct 2014	15	12	13
Nov 2014	15	20	11
Dec 2014	19	8	12
Jan 2015	13	17	6
Feb 2015	29	11	7
Mar 2015	26	28	10
Apr 2015	14	14	4
May 2015	10	164	6
Jun 2015	14	16	3
Jul 2015	24	27	7
Aug 2015	14	23	7
Sep 2015	49	35	4
Oct 2015	16	17	2
Nov 2015	36	28	9
Dec 2015	29	19	9
Jan 2016	21	14	4
Feb 2016	31	11	4
Mar 2016	17	17	5
Apr 2016	32	11	6
May 2016	17	7	5
Jun 2016	23	10	3
Jul 2016	18	11	2
Aug 2016	19	6	1
Sep 2016	30	9	9
Oct 2016	29	18	8
Nov 2016	25	14	6
Dec 2016	22	17	4
Jan 2017	26	4	3
Feb 2017	7	4	3
Mar 2017	3	25	6
Apr 2017	6	37	5
May 2017	2	43	8
Jun 2017	31	57	6
Jul 2017	41	38	9
Aug 2017	36	34	11
Sep 2017	50	42	8
Oct 2017	56	48	12
Nov 2017	57	51	2
Dec 2017	40	34	4
Jan 2018	46	34	11
Feb 2018	62	44	8
Mar 2018	51	47	6
Apr 2018	61	58	8
May 2018	35	31	8
Jun 2018	57	45	14
Jul 2018	66	58	5
Aug 2018	44	38	11
Sep 2018	106	98	9
Oct 2018	53	43	11
Nov 2018	55	52	10
Dec 2018	68	54	8
Jan 2019	47	43	3
Feb 2019	46	42	9
Mar 2019	70	58	27
Apr 2019	51	36	10
May 2019	55	42	10
Jun 2019	37	28	13
Jul 2019	36	29	15
Aug 2019	37	31	9
Sep 2019	74	68	7
Oct 2019	160	152	10
Nov 2019	114	96	24
Dec 2019	318	310	9
Jan 2020	63	57	4
Feb 2020	57	49	9
Mar 2020	53	46	16
Apr 2020	35	27	13
May 2020	43	33	10
Jun 2020	12	9	4
Jul 2020	17	17	3
Aug 2020	30	28	12
Sep 2020	44	36	13
Oct 2020	62	50	11
Nov 2020	55	38	13
Dec 2020	48	40	7
Jan 2021	62	63	12
Feb 2021	39	35	10
Mar 2021	79	65	5
Apr 2021	54	47	11
May 2021	47	38	7
Jun 2021	22	22	15
Jul 2021	24	24	14
Aug 2021	40	39	12
Sep 2021	43	43	20
Oct 2021	69	51	28
Nov 2021	62	59	15
Dec 2021	47	49	14
Jan 2022	80	66	11
Feb 2022	44	42	11
Mar 2022	69	56	15
Apr 2022	50	39	18
May 2022	58	47	23
Jun 2022	58	46	18
Jul 2022	37	31	5
Aug 2022	52	48	6
Sep 2022	48	40	13
Oct 2022	60	56	7
Nov 2022	116	87	12
Dec 2022	64	58	12
Jan 2023	80	66	17
Feb 2023	58	50	10
Mar 2023	69	61	24
Apr 2023	46	43	30
May 2023	43	29	11
Jun 2023	38	35	6
Jul 2023	40	38	8
Aug 2023	43	40	9
Sep 2023	57	57	11
Oct 2023	77	66	12
Nov 2023	106	92	11
Dec 2023	245	15	7
Jan 2024	145	5	3
Feb 2024	165	3	4
Mar 2024	161	3	3
Total	8733	7875	2210

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