Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
about
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardationScreening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeresFamilial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one aborAn unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization.Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques
P2860
Q33679366-30C285E2-A1C0-451A-8EEF-1D5552BD5B1AQ33680377-2F05D17C-076B-400C-A976-C1B195431395Q35432422-A19351BE-A303-4CE1-8DB8-E4BCF91863C6Q38463619-DAE7AAC1-3A2F-48FC-8752-D2747A705E2BQ38499915-0A163AE5-ACBE-421D-B5AA-9E93017DF039Q43172125-E2BD389F-D920-4FF9-8AD6-32F3B0034932Q58920516-6B702D33-B809-46A9-976F-1EBCFA9B37BA
P2860
Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
description
1996 nî lūn-bûn
@nan
1996 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մարտին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@ast
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@en
type
label
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@ast
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@en
prefLabel
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@ast
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@en
P2093
P2860
P356
P1476
Familial Wolf-Hirschhorn syndr ...... clinical and molecular study.
@en
P2093
Fielding D
Morrison N
P2860
P304
P356
10.1136/JMG.33.3.197
P407
P577
1996-03-01T00:00:00Z