Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?
about
Confined placental mosaicismMaternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacyMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthGenomic imprinting: review and relevance to human diseases.Unilateral disomy as a possible explanation for Russell-Silver syndrome.Maternal uniparental disomy for chromosome 14Maternal uniparental disomy 7 in Silver-Russell syndrome.Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability.A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.Genomic imprintingBest practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsSilver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Uniparental disomy for chromosome 16 in humans.Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Normal phenotype with paternal uniparental isodisomy for chromosome 21.Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locusUniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.Twinning and mitotic crossing-over: some possibilities and their implications.American Society of Human Genetics presidential address, October 18, 1990Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaAn analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.Bloom syndrome and maternal uniparental disomy for chromosome 15.Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndromeUniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardationNew developments in Silver-Russell syndrome and implications for clinical practiceDetection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphismsCystic fibrosis mutations delta F508 and G542X in Jewish patients.Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.Uniparental disomy and gene localization.The need for care in the use of linkage analysis for genetic diagnosis in small families, with particular reference to uniparental disomy.
P2860
Q24517911-42165260-5CBE-494F-9481-FBAF5EF790E1Q24670101-D5F43637-337C-4718-BB8E-5924A575F306Q24675777-1A07D86D-0873-4551-9CEF-BA57B340ADD7Q30501672-0FF26BDC-ADC2-476F-AD51-CEF8319A1FB3Q33597226-914DB6D7-8B87-4B75-857F-6D89901F7007Q33597323-3AFE9A45-CD23-459B-BF62-609E323780AAQ33678238-313AFF1B-3CF8-44EF-99E8-72AB0F14C0DAQ33681695-8436F7FC-E9B2-45C0-A40E-49E2BA6AD87DQ33682758-339DBA69-BFF5-4004-9614-AAD800EDBBA2Q33963998-4B65A5CE-38CF-4B4D-9D2C-099C51224034Q34043745-97F1B2C0-E4C3-45D6-8776-B82976CFFAE6Q34192686-8F005739-E852-4525-89DE-F817C0A42566Q34325346-962E340C-3BC0-454B-9FBC-D8440E6DE24DQ34465575-075FB342-22D9-40E0-8592-0342CFFDA6C0Q35194259-136C4AF1-F0E0-4A18-A169-02BD8A74688CQ35194640-940F32AE-C551-46AC-BE1C-0EE2ECC96E90Q35194763-AC993B97-0B04-4E24-A35E-99A7EF814308Q35196278-A562808C-5E2C-4E57-BC31-B63F35113275Q35196696-25E28FE3-8E74-49AC-9622-B25CC286F780Q35196939-BF2DB745-9224-47AE-8765-C4C64E373B97Q35197031-C27AD29F-873A-46C9-817E-CDAD2387A5BCQ35221453-9C1137B8-EDD7-44E0-AAD4-6FE0E0FB2F79Q35239163-0281A3B9-B7F0-4BA4-949F-467FA05F7E9DQ35249537-96180EC0-0B46-481E-A40D-EC0908D09544Q35432666-73781163-0165-4690-BC72-359E5D413749Q35436711-A4A08456-96C8-4BAC-97A4-B78C2CD95A27Q35790093-2090EF34-86EC-4DA1-A2BE-CD74CBDCF236Q35889018-9C8BD1B8-8F1D-4CAB-884E-A9E58A2062D3Q35889295-08F1F6F8-B69B-4005-9480-70F1B5C97576Q35889456-150B3836-33CD-4FB7-962B-0DE215038F08Q35889560-948029BF-72D5-4EEE-AF72-AA169E45FAF2Q35889650-5524CEB7-7CA0-4146-A720-8B61FCC1771DQ37055352-C0370853-BA31-4AAF-959F-AF3418F3FCB9Q40541891-3B714BFE-3155-4CFE-8EB0-6DBE697EEBA4Q41637243-E901AF1A-5460-4A63-9623-376B7C6FC33FQ41660473-242B80C0-5A6E-4FF0-828A-192E7A8BC8BAQ41845372-D087B3C4-2DEA-4ECC-8393-5FCECA2F94C5Q42279593-2724E4AB-18BA-447B-B401-605A61CA1BF6Q43146145-0EC0A4A7-DFCB-4F87-BF13-B94B65B9EB47Q43146339-BF570731-A031-43E6-B591-06E339E4B431
P2860
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?
description
1989 nî lūn-bûn
@nan
1989 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@ast
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@en
type
label
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@ast
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@en
prefLabel
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@ast
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@en
P2093
P2860
P1476
Isodisomy of chromosome 7 in a ...... al disomy be common in humans?
@en
P2093
Ben-Simon E
Tikochinski Y
Zlotogora J
P2860
P304
P407
P577
1989-09-01T00:00:00Z