Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Item
http://www.wikidata.org/entity/Q33877956
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and humanRenal-coloboma syndrome: prenatal detection and clinical spectrum in a large familyChiari malformation type I: a case-control association study of 58 developmental genes.Copy number variations and primary open-angle glaucoma.HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Renal coloboma syndrome.PAX2 in human kidney malformations and disease.Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.Next generation sequencing in research and diagnostics of ocular birth defects.The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.Association of Chiari malformation and vitamin B12 deficit in a family.Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Papillorenal syndrome after Beta-interferon treatment in pregnancy.Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
P2860

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Item
http://www.wikidata.org/entity/Q33877956
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@ast
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@en
type
label
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@ast
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@en
prefLabel
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@ast
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Homonucleotide expansion and c ...... rt of renal-coloboma syndrome.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E
P433
P478
P577
P698