Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

P D Turnpenny; N Whittock; J Duncan; S Dunwoodie; K Kusumi; S Ellard

doi:10.1136/jmg.40.5.333

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Original article

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

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	Abstract	Full	Pdf
May 2003	21	94	39
Jun 2003	23	82	42
Jul 2003	20	81	8
Aug 2003	10	40	10
Sep 2003	13	27	16
Oct 2003	11	65	5
Nov 2003	14	29	11
Dec 2003	17	20	2
Jan 2004	16	28	18
Feb 2004	10	41	11
Mar 2004	16	63	17
Apr 2004	18	25	11
May 2004	39	59	21
Jun 2004	47	77	31
Jul 2004	51	75	21
Aug 2004	43	55	7
Sep 2004	28	50	22
Oct 2004	16	37	20
Nov 2004	9	43	16
Dec 2004	11	24	14
Jan 2005	16	47	22
Feb 2005	9	55	18
Mar 2005	11	39	15
Apr 2005	1	41	20
May 2005	4	48	11
Jun 2005	2	44	23
Jul 2005	5	40	21
Aug 2005	6	46	19
Sep 2005	8	32	16
Oct 2005	13	46	19
Nov 2005	8	38	31
Dec 2005	6	47	8
Jan 2006	6	38	14
Feb 2006	7	48	19
Mar 2006	5	20	9
Apr 2006	2	17	12
May 2006	12	39	18
Jun 2006	4	11	3
Jul 2006	3	17	11
Aug 2006	3	27	9
Sep 2006	5	30	10
Oct 2006	7	35	10
Nov 2006	3	37	10
Dec 2006	5	33	18
Jan 2007	1	39	20
Feb 2007	4	28	8
Mar 2007	4	36	18
Apr 2007	11	4	5
May 2007	8	9	9
Jun 2007	11	15	12
Jul 2007	4	14	12
Aug 2007	8	8	7
Sep 2007	12	10	7
Oct 2007	9	9	9
Nov 2007	10	7	7
Dec 2007	10	6	5
Jan 2008	9	16	13
Feb 2008	11	18	13
Mar 2008	20	9	10
Apr 2008	15	7	6
May 2008	8	6	5
Jun 2008	10	6	6
Jul 2008	8	6	4
Aug 2008	13	6	2
Sep 2008	15	9	7
Oct 2008	19	4	4
Nov 2008	21	9	5
Dec 2008	11	10	5
Jan 2009	12	2	4
Feb 2009	16	2	2
Mar 2009	18	5	7
Apr 2009	7	14	9
May 2009	10	1	2
Jun 2009	9	4	5
Jul 2009	11	5	10
Aug 2009	11	1	4
Sep 2009	8	3	5
Oct 2009	7	1	0
Nov 2009	29	4	0
Dec 2009	16	1	2
Jan 2010	13	7	5
Feb 2010	5	0	2
Mar 2010	13	3	5
Apr 2010	6	4	4
May 2010	8	4	1
Jun 2010	8	3	2
Jul 2010	42	7	3
Aug 2010	36	5	2
Sep 2010	62	8	1
Oct 2010	65	23	2
Nov 2010	47	20	0
Dec 2010	20	13	0
Jan 2011	76	39	4
Feb 2011	57	24	3
Mar 2011	54	14	4
Apr 2011	57	36	3
May 2011	34	21	3
Jun 2011	40	8	1
Jul 2011	48	13	5
Aug 2011	55	9	4
Sep 2011	36	19	4
Oct 2011	41	15	2
Nov 2011	54	38	4
Dec 2011	11	65	10
Jan 2012	16	79	5
Feb 2012	9	34	3
Mar 2012	8	45	4
Apr 2012	7	64	8
May 2012	8	85	8
Jun 2012	5	63	9
Jul 2012	9	42	6
Aug 2012	11	72	7
Sep 2012	12	89	13
Oct 2012	13	81	14
Nov 2012	22	98	15
Dec 2012	16	22	7
Jan 2013	17	30	8
Feb 2013	8	11	1
Mar 2013	18	13	4
Apr 2013	13	29	11
May 2013	5	24	13
Jun 2013	4	17	12
Jul 2013	10	10	9
Aug 2013	10	9	12
Sep 2013	4	22	12
Oct 2013	7	12	11
Nov 2013	18	33	11
Dec 2013	19	14	13
Jan 2014	4	11	11
Feb 2014	7	14	7
Mar 2014	11	23	14
Apr 2014	18	31	23
May 2014	15	52	11
Jun 2014	3	44	7
Jul 2014	12	13	16
Aug 2014	4	22	12
Sep 2014	9	24	7
Oct 2014	9	18	10
Nov 2014	13	18	7
Dec 2014	6	14	5
Jan 2015	10	20	5
Feb 2015	9	6	4
Mar 2015	16	18	3
Apr 2015	20	23	10
May 2015	4	52	8
Jun 2015	4	17	4
Jul 2015	7	7	3
Aug 2015	3	9	9
Sep 2015	19	12	7
Oct 2015	9	5	1
Nov 2015	15	15	4
Dec 2015	14	18	5
Jan 2016	10	8	4
Feb 2016	4	5	2
Mar 2016	5	8	7
Apr 2016	10	7	7
May 2016	3	6	4
Jun 2016	9	12	5
Jul 2016	11	18	11
Aug 2016	11	12	1
Sep 2016	16	14	7
Oct 2016	16	11	11
Nov 2016	18	7	5
Dec 2016	17	16	5
Jan 2017	11	12	5
Feb 2017	8	6	2
Mar 2017	3	25	4
Apr 2017	1	23	2
May 2017	2	22	0
Jun 2017	10	30	6
Jul 2017	26	22	2
Aug 2017	37	32	10
Sep 2017	26	22	5
Oct 2017	23	21	8
Nov 2017	36	34	1
Dec 2017	33	13	2
Jan 2018	28	17	2
Feb 2018	22	16	1
Mar 2018	26	24	2
Apr 2018	29	25	2
May 2018	46	42	1
Jun 2018	49	43	5
Jul 2018	39	35	2
Aug 2018	61	57	2
Sep 2018	53	43	5
Oct 2018	93	77	4
Nov 2018	80	76	5
Dec 2018	111	101	5
Jan 2019	76	75	1
Feb 2019	96	87	3
Mar 2019	51	41	7
Apr 2019	25	17	11
May 2019	21	17	10
Jun 2019	17	13	4
Jul 2019	15	10	8
Aug 2019	27	12	7
Sep 2019	10	4	15
Oct 2019	33	19	6
Nov 2019	54	40	7
Dec 2019	42	22	6
Jan 2020	29	24	3
Feb 2020	39	27	7
Mar 2020	43	43	5
Apr 2020	29	27	8
May 2020	25	23	4
Jun 2020	31	27	6
Jul 2020	18	18	10
Aug 2020	9	7	8
Sep 2020	33	24	8
Oct 2020	40	38	13
Nov 2020	69	47	13
Dec 2020	36	26	12
Jan 2021	45	35	17
Feb 2021	24	17	9
Mar 2021	34	30	9
Apr 2021	62	54	15
May 2021	26	25	10
Jun 2021	12	12	10
Jul 2021	25	21	9
Aug 2021	14	16	10
Sep 2021	32	31	17
Oct 2021	45	41	26
Nov 2021	39	36	23
Dec 2021	80	52	22
Jan 2022	44	43	13
Feb 2022	76	70	9
Mar 2022	92	93	10
Apr 2022	66	64	16
May 2022	75	72	22
Jun 2022	115	106	31
Jul 2022	61	58	3
Aug 2022	80	81	9
Sep 2022	79	77	16
Oct 2022	44	39	8
Nov 2022	86	78	10
Dec 2022	71	71	5
Jan 2023	84	77	11
Feb 2023	94	82	13
Mar 2023	92	81	7
Apr 2023	67	62	8
May 2023	78	72	12
Jun 2023	68	60	11
Jul 2023	72	72	9
Aug 2023	68	64	10
Sep 2023	30	18	3
Oct 2023	29	25	8
Nov 2023	45	21	10
Dec 2023	88	2	4
Jan 2024	60	0	1
Feb 2024	26	1	3
Mar 2024	104	1	3
Apr 2024	92	6	6
May 2024	56	6	4
Jun 2024	51	5	1
Jul 2024	66	1	2
Aug 2024	81	3	1
Total	6917	7617	2230

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