Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

Salud Borrego; María Eugenia Sáez; Agustín Ruiz; Oliver Gimm; Manuel López-Alonso; Guillermo Antiñolo; Charis Eng

doi:10.1136/jmg.36.10.771

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Original article

Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

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Online download statistics by month: October 1999 to March 2024

	Abstract	Full	Pdf
Oct 1999	25	64	34
Nov 1999	1	8	8
Dec 1999	4	16	7
Jan 2000	0	7	1
Feb 2000	1	13	7
Mar 2000	0	10	7
Apr 2000	1	11	6
May 2000	1	2	0
Jun 2000	1	3	2
Jul 2000	1	11	1
Aug 2000	1	3	3
Sep 2000	1	6	5
Oct 2000	1	6	3
Nov 2000	0	1	0
Dec 2000	0	5	1
Jan 2001	0	2	0
Feb 2001	1	9	3
Mar 2001	0	2	1
Apr 2001	3	9	1
May 2001	0	2	4
Jun 2001	3	10	3
Jul 2001	0	3	0
Aug 2001	1	7	4
Sep 2001	1	7	1
Oct 2001	0	8	1
Nov 2001	0	1	0
Dec 2001	0	2	0
Jan 2002	0	11	2
Feb 2002	2	14	6
Mar 2002	1	11	4
Apr 2002	6	2	0
May 2002	1	4	3
Jun 2002	1	9	2
Jul 2002	4	8	3
Aug 2002	1	4	2
Sep 2002	0	11	1
Oct 2002	0	4	2
Nov 2002	2	10	8
Dec 2002	2	2	1
Jan 2003	0	9	9
Feb 2003	1	4	0
Mar 2003	4	17	5
Apr 2003	1	13	12
May 2003	5	11	12
Jun 2003	2	8	2
Jul 2003	10	12	4
Aug 2003	12	11	1
Sep 2003	15	28	10
Oct 2003	5	9	3
Nov 2003	12	22	6
Dec 2003	22	13	0
Jan 2004	12	30	2
Feb 2004	14	15	0
Mar 2004	13	21	4
Apr 2004	13	18	3
May 2004	48	40	3
Jun 2004	46	60	18
Jul 2004	54	61	10
Aug 2004	43	52	10
Sep 2004	39	42	8
Oct 2004	24	24	11
Nov 2004	21	26	20
Dec 2004	19	29	16
Jan 2005	9	31	29
Feb 2005	13	22	9
Mar 2005	15	34	32
Apr 2005	18	17	7
May 2005	10	21	14
Jun 2005	7	17	6
Jul 2005	6	23	12
Aug 2005	8	29	17
Sep 2005	6	22	15
Oct 2005	5	22	18
Nov 2005	7	27	17
Dec 2005	5	17	16
Jan 2006	2	6	7
Feb 2006	3	24	13
Mar 2006	6	23	14
Apr 2006	4	14	9
May 2006	13	13	11
Jun 2006	9	14	4
Jul 2006	4	13	8
Aug 2006	6	14	11
Sep 2006	3	15	11
Oct 2006	8	14	8
Nov 2006	8	15	11
Dec 2006	6	9	5
Jan 2007	7	14	6
Feb 2007	1	15	11
Mar 2007	8	9	7
Apr 2007	12	6	5
May 2007	12	9	7
Jun 2007	6	5	6
Jul 2007	4	7	8
Aug 2007	5	7	6
Sep 2007	9	6	7
Oct 2007	11	6	3
Nov 2007	10	9	6
Dec 2007	3	6	6
Jan 2008	8	7	6
Feb 2008	11	3	5
Mar 2008	10	5	9
Apr 2008	17	5	7
May 2008	9	8	9
Jun 2008	4	5	5
Jul 2008	10	7	5
Aug 2008	9	6	2
Sep 2008	14	2	0
Oct 2008	7	4	3
Nov 2008	5	11	3
Dec 2008	7	3	5
Jan 2009	5	6	8
Feb 2009	4	3	3
Mar 2009	3	3	3
Apr 2009	3	2	5
May 2009	2	4	5
Jun 2009	6	2	3
Jul 2009	2	4	2
Aug 2009	4	0	3
Sep 2009	8	1	2
Oct 2009	4	0	0
Nov 2009	12	3	4
Dec 2009	6	2	2
Jan 2010	15	1	2
Feb 2010	1	0	1
Mar 2010	5	0	2
Apr 2010	2	2	3
May 2010	2	2	4
Jun 2010	4	0	2
Jul 2010	3	4	4
Aug 2010	8	2	4
Sep 2010	0	3	1
Oct 2010	10	0	1
Nov 2010	3	1	0
Dec 2010	1	1	3
Jan 2011	5	0	0
Feb 2011	12	2	0
Mar 2011	8	3	2
Apr 2011	7	0	0
May 2011	4	3	3
Jun 2011	5	3	2
Jul 2011	14	1	2
Aug 2011	6	2	2
Sep 2011	8	0	0
Oct 2011	5	1	2
Nov 2011	7	2	3
Dec 2011	5	7	2
Jan 2012	13	7	6
Feb 2012	2	2	2
Mar 2012	5	6	0
Apr 2012	7	9	10
May 2012	5	6	8
Jun 2012	9	18	4
Jul 2012	7	5	6
Aug 2012	7	10	10
Sep 2012	11	10	6
Oct 2012	8	11	11
Nov 2012	11	8	7
Dec 2012	13	6	4
Jan 2013	22	12	2
Feb 2013	14	10	8
Mar 2013	16	6	2
Apr 2013	15	6	9
May 2013	17	13	9
Jun 2013	2	7	4
Jul 2013	3	2	1
Aug 2013	5	1	2
Sep 2013	12	12	2
Oct 2013	8	7	6
Nov 2013	10	14	5
Dec 2013	21	10	2
Jan 2014	8	2	3
Feb 2014	7	16	6
Mar 2014	19	17	4
Apr 2014	12	6	0
May 2014	13	7	3
Jun 2014	2	18	0
Jul 2014	8	10	3
Aug 2014	3	8	3
Sep 2014	12	12	1
Oct 2014	5	6	2
Nov 2014	4	6	4
Dec 2014	12	8	3
Jan 2015	2	3	2
Feb 2015	1	1	3
Mar 2015	8	16	2
Apr 2015	14	3	7
May 2015	3	6	3
Jun 2015	2	4	2
Jul 2015	4	9	4
Aug 2015	3	8	2
Sep 2015	23	7	1
Oct 2015	5	3	2
Nov 2015	4	1	3
Dec 2015	23	6	2
Jan 2016	18	9	5
Feb 2016	20	4	3
Mar 2016	9	4	6
Apr 2016	6	4	4
May 2016	3	6	8
Jun 2016	2	9	3
Jul 2016	11	2	3
Aug 2016	8	3	1
Sep 2016	9	4	3
Oct 2016	18	4	5
Nov 2016	15	4	0
Dec 2016	15	2	0
Jan 2017	21	8	3
Feb 2017	2	6	0
Mar 2017	3	7	2
Apr 2017	3	15	2
May 2017	1	17	2
Jun 2017	5	10	1
Jul 2017	10	8	2
Aug 2017	6	6	1
Sep 2017	15	13	5
Oct 2017	23	23	2
Nov 2017	62	62	4
Dec 2017	70	70	0
Jan 2018	106	102	1
Feb 2018	67	61	1
Mar 2018	122	110	2
Apr 2018	52	52	1
May 2018	70	67	7
Jun 2018	24	22	6
Jul 2018	29	21	3
Aug 2018	40	40	1
Sep 2018	46	42	2
Oct 2018	40	38	4
Nov 2018	43	43	3
Dec 2018	69	61	0
Jan 2019	45	43	0
Feb 2019	55	44	4
Mar 2019	19	18	6
Apr 2019	18	5	4
May 2019	12	10	4
Jun 2019	17	9	3
Jul 2019	9	7	4
Aug 2019	12	4	6
Sep 2019	10	4	4
Oct 2019	17	13	7
Nov 2019	9	5	7
Dec 2019	12	7	4
Jan 2020	20	12	3
Feb 2020	7	7	4
Mar 2020	3	3	3
Apr 2020	2	2	3
May 2020	9	9	3
Jun 2020	13	13	6
Jul 2020	9	9	4
Aug 2020	5	3	4
Sep 2020	19	16	2
Oct 2020	15	16	7
Nov 2020	15	13	5
Dec 2020	22	15	8
Jan 2021	9	9	3
Feb 2021	13	11	4
Mar 2021	19	15	3
Apr 2021	5	5	2
May 2021	2	2	1
Jun 2021	4	4	4
Jul 2021	11	11	9
Aug 2021	2	2	7
Sep 2021	15	13	8
Oct 2021	21	19	16
Nov 2021	6	6	14
Dec 2021	9	9	4
Jan 2022	22	22	9
Feb 2022	16	13	3
Mar 2022	15	10	1
Apr 2022	9	9	3
May 2022	25	22	12
Jun 2022	35	35	8
Jul 2022	13	13	2
Aug 2022	22	22	6
Sep 2022	19	19	6
Oct 2022	22	20	6
Nov 2022	13	11	1
Dec 2022	15	9	2
Jan 2023	20	16	5
Feb 2023	35	35	1
Mar 2023	18	19	4
Apr 2023	10	8	5
May 2023	20	6	7
Jun 2023	16	6	7
Jul 2023	7	5	7
Aug 2023	6	6	4
Sep 2023	6	6	3
Oct 2023	13	13	7
Nov 2023	24	22	6
Dec 2023	32	3	2
Jan 2024	27	2	1
Feb 2024	28	0	0
Mar 2024	108	4	1
Total	3670	3673	1418

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