High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

Serena Nik-Zainal; Reiner Strick; Mekayla Storer; Ni Huang; Roland Rad; Lionel Willatt; Tomas Fitzgerald; Vicki Martin; Richard Sandford; Nigel P Carter; Andreas R Janecke; Stefan P Renner; Patricia G Oppelt; Peter Oppelt; Christine Schulze; Sara Brucker; Matthew Hurles; Matthias W Beckmann; Pamela L Strissel; Charles Shaw-Smith

doi:10.1136/jmg.2010.082412

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Original article

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

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	Abstract	Full	Pdf
Jan 2011	46	3	8
Feb 2011	337	27	88
Mar 2011	393	286	187
Apr 2011	49	13	25
May 2011	22	21	27
Jun 2011	29	39	33
Jul 2011	53	17	14
Aug 2011	30	14	15
Sep 2011	33	13	13
Oct 2011	41	12	15
Nov 2011	44	20	17
Dec 2011	51	15	16
Jan 2012	57	14	17
Feb 2012	50	19	12
Mar 2012	45	17	8
Apr 2012	54	5	6
May 2012	46	7	5
Jun 2012	32	4	4
Jul 2012	43	4	4
Aug 2012	24	4	4
Sep 2012	30	10	5
Oct 2012	36	3	3
Nov 2012	30	4	4
Dec 2012	44	5	6
Jan 2013	75	2	6
Feb 2013	34	5	3
Mar 2013	43	6	4
Apr 2013	38	8	8
May 2013	36	7	4
Jun 2013	18	4	6
Jul 2013	13	2	4
Aug 2013	15	4	7
Sep 2013	15	4	3
Oct 2013	14	4	4
Nov 2013	34	3	5
Dec 2013	9	1	2
Jan 2014	24	1	3
Feb 2014	16	5	6
Mar 2014	24	1	2
Apr 2014	26	1	1
May 2014	15	4	4
Jun 2014	11	4	1
Jul 2014	13	3	2
Aug 2014	10	6	7
Sep 2014	14	7	4
Oct 2014	18	7	7
Nov 2014	8	2	2
Dec 2014	12	3	2
Jan 2015	16	4	5
Feb 2015	7	1	1
Mar 2015	16	1	1
Apr 2015	16	2	4
May 2015	4	1	2
Jun 2015	23	5	3
Jul 2015	32	8	7
Aug 2015	9	2	3
Sep 2015	22	1	2
Oct 2015	11	0	0
Nov 2015	18	2	1
Dec 2015	10	0	1
Jan 2016	21	5	5
Feb 2016	11	7	5
Mar 2016	23	11	8
Apr 2016	18	1	4
May 2016	14	9	7
Jun 2016	11	2	4
Jul 2016	14	2	3
Aug 2016	16	2	3
Sep 2016	19	2	5
Oct 2016	23	6	2
Nov 2016	18	0	2
Dec 2016	11	2	2
Jan 2017	6	0	0
Feb 2017	11	2	1
Mar 2017	19	3	2
Apr 2017	25	2	1
May 2017	22	5	1
Jun 2017	31	2	1
Jul 2017	28	1	1
Aug 2017	25	1	1
Sep 2017	56	1	1
Oct 2017	36	1	1
Nov 2017	66	1	3
Dec 2017	71	7	4
Jan 2018	87	2	2
Feb 2018	72	1	0
Mar 2018	71	5	2
Apr 2018	49	3	1
May 2018	42	4	4
Jun 2018	66	0	0
Jul 2018	57	1	1
Aug 2018	35	1	2
Sep 2018	19	1	0
Oct 2018	48	2	0
Nov 2018	37	3	3
Dec 2018	53	0	0
Jan 2019	45	1	1
Feb 2019	64	4	3
Mar 2019	34	1	0
Apr 2019	75	5	1
May 2019	45	2	3
Jun 2019	15	1	0
Jul 2019	45	3	2
Aug 2019	45	3	2
Sep 2019	17	4	1
Oct 2019	39	0	0
Nov 2019	34	2	3
Dec 2019	33	1	0
Jan 2020	57	5	3
Feb 2020	69	3	1
Mar 2020	63	1	1
Apr 2020	24	2	0
May 2020	37	0	1
Jun 2020	43	2	1
Jul 2020	54	1	1
Aug 2020	55	3	4
Sep 2020	66	4	4
Oct 2020	72	3	1
Nov 2020	92	4	3
Dec 2020	58	4	1
Jan 2021	65	3	2
Feb 2021	62	3	1
Mar 2021	99	3	0
Apr 2021	33	3	2
May 2021	16	0	0
Jun 2021	0	0	1
Jul 2021	1	1	3
Aug 2021	6	7	3
Sep 2021	4	3	0
Oct 2021	27	2	0
Nov 2021	44	5	0
Dec 2021	46	4	0
Jan 2022	38	4	2
Feb 2022	38	2	3
Mar 2022	75	9	6
Apr 2022	54	0	1
May 2022	81	5	1
Jun 2022	65	2	3
Jul 2022	60	0	1
Aug 2022	73	4	1
Sep 2022	40	4	0
Oct 2022	40	4	2
Nov 2022	136	2	0
Dec 2022	119	3	1
Jan 2023	41	5	1
Feb 2023	110	2	1
Mar 2023	95	1	0
Apr 2023	34	2	1
May 2023	29	0	0
Jun 2023	20	0	0
Jul 2023	30	6	4
Aug 2023	41	8	0
Sep 2023	17	8	3
Oct 2023	48	2	1
Nov 2023	84	8	1
Dec 2023	104	2	1
Jan 2024	58	13	1
Feb 2024	56	3	1
Mar 2024	89	4	2
Total	6828	991	832

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