Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
about
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaOsteogenesis imperfecta: translation of mutation to phenotypeMECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originThe origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesCRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionSkeletal dysplasiasGenetic mosaics and the germ line lineageVariability of expression in tuberous sclerosis.Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsibleDetermination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.Perinatal lethal osteogenesis imperfecta.Gonadal mosaicism for incontinentia pigmenti in a healthy male.Somatic mosaicism in hemophilia A: a fairly common event.Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand diseaseSomatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.Recurrence risk of a new dominant mutation in children of unaffected parentsParental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.Osteogenesis Imperfecta: A Review with Clinical Examples.Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityAsymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2.Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities.Osteogenesis imperfecta: from phenotype to genotype and back again.Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
P2860
Q24324926-6F39720B-C719-4019-9ECC-3AC2FBFDD07CQ24515006-912195A2-E9FC-4791-9034-446B01E9770DQ24533455-06FDA44C-83C4-43DF-9539-5B8FC9915C6FQ24546616-91F0293D-53E8-457A-8D67-6DFC751CD7BCQ24599558-C1716174-739C-449F-8099-4E0911FCBD24Q24673017-78F9DB57-2AF1-472D-B6FD-7BD0DC7B8132Q28083452-4D11166E-21B1-408A-9515-109BAF420C45Q28397586-D49C32CE-D48A-4D8C-8C31-DA194D0ACD1FQ33594849-C592E44D-FC1E-47DE-925B-34579C59842CQ33595459-BECA09D8-7A22-4F9C-B832-C0A3A41BFEDDQ33596338-A7BE9918-9EFB-4502-8BA2-3C000E6B034BQ33676390-118EE192-AF58-4221-8674-FC4B2A4FF08DQ33682795-BB9909C1-A133-444C-9D9D-BC4DBEB0EE9FQ34020470-65CB6CA2-9FB4-4CB9-84EB-431A32561765Q34389307-782372E0-5386-4ECE-84F5-00E51357798AQ35194635-3AE9FBB1-D4DF-4174-A667-44A9909C2143Q35195297-7C81D00D-1267-4E8F-AE41-3D633796A850Q35195438-5F9C9AF7-93CF-47B8-90DC-B8929D1920C1Q35195812-78FC905B-B14B-454C-988C-2B570955AC4BQ35196378-ABC084F3-51CD-4E19-AAC2-C520E00EF126Q35238568-ACA90C3E-4FE9-461C-B182-C5B94469F797Q35643957-156549AF-1006-4F9B-AA81-E9E6F02F1886Q35932671-B3B319EE-5117-4EA9-AFCE-05EA18075108Q36148136-912D8779-6874-43FC-9B47-06FC68161844Q37319354-B7C1C3B4-839B-48EF-9868-9C0B7FFF4E09Q37634533-A5835FD8-973F-41B9-9A1D-B9146A97AAC0Q41163824-1700BA89-FBE7-4F34-B37C-CF4B5F739B36Q43109016-46ECEC6B-A05D-4F6F-B7CF-E7A95730996FQ52841498-45BB595D-1887-430F-BA5C-C5B749D0699BQ52854120-A62CB92C-4C94-4774-9850-F714A77D711CQ53645235-A1E3DD9E-C63F-4BAF-BBDB-0154AC85335B
P2860
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
description
1990 nî lūn-bûn
@nan
1990 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մարտին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1).
@ast
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1).
@en
type
label
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1).
@ast
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1).
@en
prefLabel
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1).
@ast
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1).
@en
P2093
P2860
P1476
Recurrence of lethal osteogene ...... type I collagen gene (COL1A1)
@en
P2093
P2860
P304
P407
P577
1990-03-01T00:00:00Z