Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
about
Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophyThe FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1Making sense of the limb-girdle muscular dystrophies.FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with diseaseMolecular diagnosis of facioscapulohumeral muscular dystrophy.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophyA large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy.Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy
P2860
Q28069201-FD7CF504-D2CA-40AA-AF71-F1C5C10E1AFDQ29026180-4351C264-2D95-4EC9-AE18-B86864ACA730Q33701932-0F6AB147-9406-4935-BB04-E5C501D87B8AQ34597291-A305D309-6DD2-4329-B3F6-01FCB9E56637Q34606340-7F4D1AD6-DCFC-4E7D-9DE1-CE4343C8AE87Q34685919-2D145CE3-E499-4B43-BC8F-1EB6BA5F0D89Q35688138-34059531-F920-48A9-AD13-843AE29A8E34Q36695157-141A69D2-6DE6-4EB2-8E0A-57F3FBABF7D1Q37256202-9D0F6203-480A-4817-9E82-B7A026227750Q42706421-FEE32D46-F0DD-46E4-91DB-DCCC680ACAB5Q47188917-76FC2BC0-B139-4C73-AB25-218AE16A8F9CQ48349062-87DFDE1D-C9B4-46CE-AC12-F68313D95C47Q54093257-CDD20DA6-2950-436B-A149-4E8A7C55E506Q58714228-1C580674-8C36-423C-8955-2673F9F0A37E
P2860
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Improved molecular diagnosis o ...... tial double digestion for FSHD
@ast
Improved molecular diagnosis o ...... tial double digestion for FSHD
@en
type
label
Improved molecular diagnosis o ...... tial double digestion for FSHD
@ast
Improved molecular diagnosis o ...... tial double digestion for FSHD
@en
prefLabel
Improved molecular diagnosis o ...... tial double digestion for FSHD
@ast
Improved molecular diagnosis o ...... tial double digestion for FSHD
@en
P2093
P2860
P356
P1476
Improved molecular diagnosis o ...... tial double digestion for FSHD
@en
P2093
M T Rogers
M Upadhyaya
P S Harper
P2860
P304
P356
10.1136/JMG.34.6.476
P407
P577
1997-06-01T00:00:00Z