Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
about
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentMutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Overview of hereditary neuropathy with liability to pressure palsies.Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.The PMP22 gene and its related diseases.CNS myelination and PLP gene dosage.Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.Detection of copy number variation by SNP-allelotyping.Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Charcot-Marie-Tooth disease type 1Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical ProceduresCharcot-Marie-Tooth 1A: A narrative review with clinical and anatomical perspectives.Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patientsPMP22 expression in dermal nerve myelin from patients with CMT1A.Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsiesDetection of tandem duplications and implications for linkage analysis.High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.
P2860
Q33594681-A9AAC3F3-461F-4D78-B89E-C52B917E5993Q33675329-9762B530-2489-4A66-B14E-84334C4ECEF1Q33678294-652FE081-139B-42BE-878C-50DF19BB5E2CQ33681015-E54EA5A8-F9C0-4691-982F-C2CA3430FBFDQ33787282-09BB6557-0F8E-43EE-BBA4-EE7D6F3C69F0Q34141813-FE6129DE-2000-434C-9150-E8779BF663D6Q34316615-29122ABD-A65A-4CCD-8CDE-894F20D3AA81Q34355269-199102DD-067D-43CD-B116-6D58914E78E1Q34386264-871DCD6A-E4C3-4BC4-9CC5-3C4708DBCDD6Q34624454-8B807E19-FF61-4231-A2D9-5ACC2962FC84Q35194948-3AAE5EF8-CE9E-4D66-BADE-109A723110CBQ35643742-571D74FA-A695-4CE9-AE41-9D8326EE103DQ35938623-68E5EB56-FD71-4112-9352-6AE0747565B1Q36507166-39592BD5-593E-4E27-80DB-6B26B35C63C8Q36864095-A282489B-508A-4C47-8A45-7523EDF2B2E6Q36926249-1F0CC1BA-C92E-4660-A200-2615302061BBQ38604756-2EF4DE74-7152-4B44-9AD8-0C147C76A52FQ41661984-675587DA-0D4E-4390-BEAE-74483BE6EE83Q41908068-3A1C490D-9E0C-48A9-BB0C-321FCF2C60E9Q42121096-D223C260-1CB1-40FC-A036-87EA2374F392Q42135631-B50E0286-012E-4E43-9BBD-EF57E6869E2BQ42591829-B283A0B1-A9A6-4628-A2AF-8F188D14E196Q44360476-2201E34B-A234-401C-A61B-AF6A2C5625C1Q52202717-A611A7A5-A735-42CE-8143-29E81A65CA3B
P2860
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Estimation of the size of the ...... Collaborative Research Group.
@ast
Estimation of the size of the ...... Collaborative Research Group.
@en
type
label
Estimation of the size of the ...... Collaborative Research Group.
@ast
Estimation of the size of the ...... Collaborative Research Group.
@en
prefLabel
Estimation of the size of the ...... Collaborative Research Group.
@ast
Estimation of the size of the ...... Collaborative Research Group.
@en
P2093
P2860
P356
P1476
Estimation of the size of the ...... Collaborative Research Group.
@en
P2093
De Jonghe P
Raeymaekers P
Timmerman V
Van Broeckhoven C
P2860
P356
10.1136/JMG.29.1.5
P407
P577
1992-01-01T00:00:00Z