Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

MICHEL BAHUAU; INGRID LAURENDEAU; ANNA PELET; BRIGITTE ASSOULINE; THIERRY LAMIREAU; LAURENCE TAINE; BRIGITTE LE BAIL; PIERRE VERGNES; SERGE GALLET; MICHEL VIDAUD; STANISLAS LYONNET; DIDIER LACOMBE; DOMINIQUE VIDAUD

doi:10.1136/jmg.37.2.146

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Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

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	Abstract	Full	Pdf
Feb 2000	0	31	13
Mar 2000	0	18	3
Apr 2000	0	5	5
May 2000	0	5	0
Jun 2000	0	3	0
Aug 2000	0	5	1
Oct 2000	0	1	0
Nov 2000	0	1	2
Jan 2001	0	3	1
Feb 2001	0	4	1
Mar 2001	0	1	0
Apr 2001	0	6	2
May 2001	0	1	0
Jun 2001	0	4	0
Jul 2001	0	6	5
Aug 2001	0	4	1
Sep 2001	0	2	0
Oct 2001	0	5	0
Nov 2001	0	3	0
Dec 2001	0	3	0
Jan 2002	0	5	0
Feb 2002	0	1	0
Mar 2002	0	4	6
Apr 2002	0	3	1
May 2002	0	3	1
Jun 2002	0	7	3
Jul 2002	0	3	2
Aug 2002	0	2	0
Sep 2002	0	3	1
Oct 2002	0	1	2
Nov 2002	0	2	0
Dec 2002	0	4	7
Jan 2003	0	5	4
Feb 2003	0	2	1
Apr 2003	0	1	0
Jun 2003	0	2	0
Jul 2003	0	21	1
Aug 2003	0	8	0
Sep 2003	0	8	0
Oct 2003	0	9	0
Nov 2003	0	11	0
Dec 2003	0	13	3
Jan 2004	0	49	2
Feb 2004	0	7	1
Mar 2004	0	21	2
Apr 2004	0	13	3
May 2004	0	32	0
Jun 2004	0	43	3
Jul 2004	0	54	5
Aug 2004	0	65	6
Sep 2004	0	64	3
Oct 2004	10	39	4
Nov 2004	8	31	3
Dec 2004	10	28	2
Jan 2005	12	27	8
Feb 2005	3	35	1
Mar 2005	7	27	3
Apr 2005	3	27	2
May 2005	2	27	7
Jun 2005	0	13	1
Jul 2005	0	11	0
Aug 2005	7	21	7
Sep 2005	2	25	4
Oct 2005	0	14	8
Nov 2005	1	18	4
Dec 2005	2	21	0
Jan 2006	1	29	2
Feb 2006	0	11	3
Mar 2006	1	21	5
Apr 2006	1	20	1
May 2006	3	15	1
Jun 2006	2	9	1
Jul 2006	0	13	0
Aug 2006	0	12	2
Sep 2006	4	24	1
Oct 2006	3	44	4
Nov 2006	2	33	4
Dec 2006	4	25	2
Jan 2007	1	17	4
Feb 2007	3	15	3
Mar 2007	3	23	1
Apr 2007	7	6	1
May 2007	11	6	2
Jun 2007	8	4	1
Jul 2007	8	4	0
Aug 2007	2	6	0
Sep 2007	13	6	2
Oct 2007	9	6	1
Nov 2007	8	2	1
Dec 2007	13	13	2
Jan 2008	5	5	1
Feb 2008	16	13	2
Mar 2008	15	8	1
Apr 2008	15	7	3
May 2008	5	4	0
Jun 2008	6	2	2
Jul 2008	4	5	0
Aug 2008	21	3	1
Sep 2008	10	8	2
Oct 2008	5	7	4
Nov 2008	7	6	2
Dec 2008	8	3	3
Jan 2009	7	1	1
Feb 2009	7	3	0
Mar 2009	13	0	0
Apr 2009	6	3	2
May 2009	6	2	5
Jun 2009	2	1	0
Jul 2009	7	5	2
Aug 2009	7	4	1
Sep 2009	8	0	0
Oct 2009	7	0	0
Nov 2009	2	3	1
Dec 2009	8	0	1
Jan 2010	4	0	2
Feb 2010	6	0	2
Mar 2010	6	5	2
Apr 2010	4	0	1
May 2010	6	4	2
Jun 2010	7	0	1
Jul 2010	6	4	3
Aug 2010	28	7	1
Sep 2010	33	8	0
Oct 2010	41	15	0
Nov 2010	31	13	0
Dec 2010	33	9	0
Jan 2011	97	8	0
Feb 2011	140	11	0
Mar 2011	113	18	2
Apr 2011	70	14	0
May 2011	91	6	4
Jun 2011	51	4	0
Jul 2011	51	7	1
Aug 2011	98	10	3
Sep 2011	59	7	2
Oct 2011	55	6	1
Nov 2011	77	45	6
Dec 2011	14	73	10
Jan 2012	13	121	5
Feb 2012	3	64	0
Mar 2012	7	75	3
Apr 2012	8	56	3
May 2012	7	83	5
Jun 2012	8	57	5
Jul 2012	15	44	5
Aug 2012	6	48	4
Sep 2012	6	48	8
Oct 2012	13	55	12
Nov 2012	0	52	6
Dec 2012	0	17	5
Jan 2013	0	34	6
Feb 2013	0	19	5
Mar 2013	0	29	6
Apr 2013	0	23	8
May 2013	0	30	7
Jun 2013	1	11	0
Jul 2013	4	13	1
Aug 2013	5	11	2
Sep 2013	9	12	2
Oct 2013	2	13	0
Nov 2013	3	23	0
Dec 2013	8	12	1
Jan 2014	5	9	0
Feb 2014	11	10	2
Mar 2014	12	20	3
Apr 2014	19	26	0
May 2014	15	28	2
Jun 2014	13	25	2
Jul 2014	15	40	1
Aug 2014	14	85	1
Sep 2014	7	66	2
Oct 2014	5	51	0
Nov 2014	5	12	0
Dec 2014	2	30	3
Jan 2015	5	13	1
Feb 2015	2	19	5
Mar 2015	6	34	1
Apr 2015	3	13	1
May 2015	11	38	1
Jun 2015	9	40	3
Jul 2015	4	12	4
Aug 2015	2	10	1
Sep 2015	7	10	3
Oct 2015	1	11	0
Nov 2015	4	13	5
Dec 2015	7	12	3
Jan 2016	4	9	4
Feb 2016	4	5	6
Mar 2016	5	6	8
Apr 2016	6	8	11
May 2016	2	11	3
Jun 2016	3	13	17
Jul 2016	3	5	5
Aug 2016	15	5	4
Sep 2016	4	7	1
Oct 2016	4	5	1
Nov 2016	7	8	1
Dec 2016	9	16	1
Jan 2017	5	5	0
Feb 2017	1	9	0
Mar 2017	3	12	2
Apr 2017	0	14	1
May 2017	0	13	3
Jun 2017	6	12	2
Jul 2017	8	7	1
Aug 2017	8	8	0
Sep 2017	14	14	5
Oct 2017	19	13	0
Nov 2017	22	22	1
Dec 2017	11	7	0
Jan 2018	12	12	0
Feb 2018	16	12	1
Mar 2018	36	34	9
Apr 2018	20	20	0
May 2018	17	15	0
Jun 2018	21	18	1
Jul 2018	13	13	0
Aug 2018	10	10	1
Sep 2018	11	11	4
Oct 2018	9	9	2
Nov 2018	15	16	1
Dec 2018	14	14	3
Jan 2019	17	16	1
Feb 2019	17	17	1
Mar 2019	25	25	2
Apr 2019	16	16	5
May 2019	22	22	2
Jun 2019	15	13	3
Jul 2019	10	11	3
Aug 2019	5	5	3
Sep 2019	3	3	2
Oct 2019	6	6	3
Nov 2019	6	7	1
Dec 2019	4	4	4
Jan 2020	21	21	2
Feb 2020	24	24	3
Mar 2020	9	9	7
Apr 2020	15	15	2
May 2020	14	14	0
Jun 2020	12	11	5
Jul 2020	8	8	1
Aug 2020	6	6	3
Sep 2020	22	21	3
Oct 2020	24	24	6
Nov 2020	17	17	3
Dec 2020	27	27	7
Jan 2021	7	6	5
Feb 2021	23	23	5
Mar 2021	19	19	4
Apr 2021	6	6	0
May 2021	10	10	1
Jun 2021	5	5	0
Jul 2021	11	11	8
Aug 2021	3	4	1
Sep 2021	10	12	3
Oct 2021	7	7	14
Nov 2021	10	11	18
Dec 2021	6	6	2
Jan 2022	25	25	5
Feb 2022	27	25	3
Mar 2022	19	19	2
Apr 2022	26	26	6
May 2022	27	26	8
Jun 2022	22	22	2
Jul 2022	16	16	1
Aug 2022	28	27	6
Sep 2022	23	23	12
Oct 2022	22	22	6
Nov 2022	13	13	3
Dec 2022	4	3	0
Jan 2023	15	15	7
Feb 2023	43	43	2
Mar 2023	15	13	3
Apr 2023	9	9	4
May 2023	14	12	8
Jun 2023	10	10	0
Jul 2023	10	10	8
Aug 2023	11	9	3
Sep 2023	13	13	3
Oct 2023	32	25	1
Nov 2023	30	31	2
Dec 2023	156	8	0
Jan 2024	14	1	0
Feb 2024	25	1	0
Mar 2024	20	1	0
Apr 2024	5	2	0
May 2024	24	0	0
Jun 2024	19	2	1
Jul 2024	48	1	0
Aug 2024	30	3	0
Total	3408	4585	737

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