Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

P Cerruti Mainardi; C Perfumo; A Calì; G Coucourde; G Pastore; S Cavani; F Zara; J Overhauser; M Pierluigi; F Dagna Bricarelli

doi:10.1136/jmg.38.3.151

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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

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	Abstract	Full	Pdf
Mar 2001	323	133	49
Apr 2001	29	60	13
May 2001	14	35	4
Jun 2001	5	27	4
Jul 2001	3	25	7
Aug 2001	1	34	4
Sep 2001	7	32	6
Oct 2001	3	34	8
Nov 2001	6	31	4
Dec 2001	0	16	6
Jan 2002	1	20	4
Feb 2002	3	19	5
Mar 2002	7	26	10
Apr 2002	10	36	7
May 2002	3	26	9
Jun 2002	3	29	14
Jul 2002	6	21	11
Aug 2002	2	32	16
Sep 2002	2	32	8
Oct 2002	7	58	21
Nov 2002	6	58	21
Dec 2002	6	28	19
Jan 2003	4	39	15
Feb 2003	3	22	8
Mar 2003	4	56	17
Apr 2003	5	46	21
May 2003	4	44	20
Jun 2003	1	26	9
Jul 2003	10	105	15
Aug 2003	6	38	10
Sep 2003	19	46	18
Oct 2003	19	93	21
Nov 2003	21	61	20
Dec 2003	16	41	14
Jan 2004	21	103	25
Feb 2004	23	42	15
Mar 2004	20	78	29
Apr 2004	24	73	32
May 2004	38	104	36
Jun 2004	42	90	24
Jul 2004	49	118	37
Aug 2004	36	94	38
Sep 2004	38	127	57
Oct 2004	27	141	60
Nov 2004	40	176	66
Dec 2004	19	114	41
Jan 2005	17	98	47
Feb 2005	22	80	26
Mar 2005	23	79	30
Apr 2005	11	107	39
May 2005	4	89	31
Jun 2005	11	74	57
Jul 2005	11	79	37
Aug 2005	11	74	31
Sep 2005	3	77	39
Oct 2005	21	80	36
Nov 2005	21	157	53
Dec 2005	14	73	33
Jan 2006	11	108	35
Feb 2006	10	111	34
Mar 2006	4	88	34
Apr 2006	14	75	29
May 2006	28	63	28
Jun 2006	16	39	17
Jul 2006	7	25	16
Aug 2006	23	35	25
Sep 2006	20	66	24
Oct 2006	23	83	54
Nov 2006	19	73	49
Dec 2006	20	51	21
Jan 2007	22	46	34
Feb 2007	22	72	47
Mar 2007	32	57	40
Apr 2007	32	18	18
May 2007	26	22	18
Jun 2007	19	29	21
Jul 2007	20	25	19
Aug 2007	24	31	24
Sep 2007	32	20	15
Oct 2007	30	26	27
Nov 2007	20	26	17
Dec 2007	6	21	20
Jan 2008	30	21	22
Feb 2008	26	25	23
Mar 2008	34	19	17
Apr 2008	30	21	23
May 2008	25	11	4
Jun 2008	19	10	14
Jul 2008	16	9	7
Aug 2008	9	15	13
Sep 2008	21	11	9
Oct 2008	18	12	18
Nov 2008	18	14	9
Dec 2008	13	8	8
Jan 2009	15	9	5
Feb 2009	21	19	20
Mar 2009	27	19	11
Apr 2009	18	10	14
May 2009	15	16	13
Jun 2009	10	3	6
Jul 2009	7	10	6
Aug 2009	12	5	7
Sep 2009	19	2	4
Oct 2009	24	8	8
Nov 2009	25	12	7
Dec 2009	22	1	4
Jan 2010	10	5	7
Feb 2010	15	5	6
Mar 2010	19	10	8
Apr 2010	15	6	9
May 2010	22	6	8
Jun 2010	14	8	7
Jul 2010	18	5	6
Aug 2010	43	17	6
Sep 2010	62	29	35
Oct 2010	106	33	10
Nov 2010	64	21	12
Dec 2010	59	20	10
Jan 2011	82	16	5
Feb 2011	62	8	6
Mar 2011	93	22	8
Apr 2011	81	36	5
May 2011	65	17	9
Jun 2011	128	31	9
Jul 2011	227	60	11
Aug 2011	174	57	0
Sep 2011	175	34	9
Oct 2011	140	50	6
Nov 2011	135	116	19
Dec 2011	27	166	11
Jan 2012	14	180	11
Feb 2012	16	202	7
Mar 2012	22	143	12
Apr 2012	21	121	25
May 2012	18	111	11
Jun 2012	18	138	73
Jul 2012	14	188	27
Aug 2012	17	197	19
Sep 2012	27	335	26
Oct 2012	37	276	40
Nov 2012	34	141	30
Dec 2012	29	61	21
Jan 2013	49	41	24
Feb 2013	28	46	39
Mar 2013	27	36	39
Apr 2013	46	52	40
May 2013	40	49	37
Jun 2013	10	39	20
Jul 2013	11	29	23
Aug 2013	23	39	15
Sep 2013	13	34	31
Oct 2013	30	44	25
Nov 2013	34	51	43
Dec 2013	16	47	30
Jan 2014	6	19	24
Feb 2014	22	31	13
Mar 2014	39	51	24
Apr 2014	23	53	31
May 2014	16	33	12
Jun 2014	20	24	9
Jul 2014	20	20	18
Aug 2014	11	25	18
Sep 2014	26	38	20
Oct 2014	20	24	25
Nov 2014	20	27	19
Dec 2014	14	28	18
Jan 2015	28	21	21
Feb 2015	15	37	13
Mar 2015	13	42	24
Apr 2015	26	52	17
May 2015	22	76	20
Jun 2015	16	36	9
Jul 2015	6	26	9
Aug 2015	14	21	19
Sep 2015	26	32	17
Oct 2015	16	35	19
Nov 2015	16	32	16
Dec 2015	11	18	0
Jan 2016	17	13	7
Feb 2016	12	14	11
Mar 2016	10	28	33
Apr 2016	13	49	22
May 2016	14	37	11
Jun 2016	12	13	31
Jul 2016	21	31	18
Aug 2016	13	14	6
Sep 2016	25	35	22
Oct 2016	30	46	13
Nov 2016	35	44	8
Dec 2016	19	22	4
Jan 2017	17	19	7
Feb 2017	26	16	25
Mar 2017	7	28	22
Apr 2017	27	64	21
May 2017	18	60	32
Jun 2017	11	35	6
Jul 2017	37	27	15
Aug 2017	42	23	17
Sep 2017	46	32	10
Oct 2017	42	30	8
Nov 2017	133	113	10
Dec 2017	183	175	8
Jan 2018	235	215	12
Feb 2018	141	119	11
Mar 2018	259	235	10
Apr 2018	129	107	26
May 2018	166	158	10
Jun 2018	64	50	5
Jul 2018	78	59	12
Aug 2018	142	112	19
Sep 2018	94	80	32
Oct 2018	119	108	25
Nov 2018	137	121	25
Dec 2018	198	158	28
Jan 2019	183	172	17
Feb 2019	164	138	22
Mar 2019	138	125	25
Apr 2019	140	117	27
May 2019	89	73	17
Jun 2019	97	87	18
Jul 2019	107	98	26
Aug 2019	108	104	21
Sep 2019	124	114	32
Oct 2019	90	82	23
Nov 2019	139	127	31
Dec 2019	115	109	50
Jan 2020	149	133	30
Feb 2020	199	167	30
Mar 2020	140	126	31
Apr 2020	97	91	27
May 2020	76	54	38
Jun 2020	57	54	29
Jul 2020	69	59	36
Aug 2020	57	43	10
Sep 2020	92	62	17
Oct 2020	73	65	8
Nov 2020	75	61	10
Dec 2020	95	75	20
Jan 2021	88	81	14
Feb 2021	91	75	19
Mar 2021	117	90	13
Apr 2021	87	59	16
May 2021	76	66	15
Jun 2021	67	67	24
Jul 2021	39	37	14
Aug 2021	49	49	16
Sep 2021	47	45	14
Oct 2021	74	61	35
Nov 2021	138	102	49
Dec 2021	151	120	25
Jan 2022	111	76	39
Feb 2022	77	53	10
Mar 2022	94	73	27
Apr 2022	94	90	20
May 2022	130	114	37
Jun 2022	91	79	26
Jul 2022	44	43	9
Aug 2022	61	60	10
Sep 2022	49	46	22
Oct 2022	81	65	22
Nov 2022	73	60	14
Dec 2022	61	49	12
Total	12170	15921	5279

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