Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations
about
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceA trans-acting protein effect causes severe eye malformation in the Mp mouseSprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.Rare variants in NR2F2 cause congenital heart defects in humans.Hepatoblastoma and hypoplastic kidneys: a new association.A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans.Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla.Genomic medicine for kidney disease.Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Etiologies of uterine malformations.
P2860
Q27339890-71D3714E-FB6A-4AC6-9361-AA3BBA408CF2Q28508709-015BCE37-2CD1-4DE3-BF6B-857FE34B85C6Q36352158-F14D6410-E060-42EA-AABF-F19F8557BEA9Q37693348-1878E44A-1193-48E9-8C19-199A42EC11ADQ38195569-FF605C00-385F-4BE5-9E2B-C28DD38FCE56Q38652474-262C3265-03CF-4C74-915A-A12BC53A1EB8Q42148107-BE3C9599-9C52-4598-81DC-44B39438A113Q47200436-205D0394-0ED7-4BD3-9E1B-C4AC78B72E11Q47444849-3AF396F7-67D5-49F4-A883-ACF1015571ABQ47904747-7A397E5B-0EC9-44A0-8318-6970D26B8BBDQ53087377-BE5F9559-AFA8-4188-85A1-8F73F60711E5
P2860
Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Bilateral renal agenesis/hypop ...... of two de novo translocations
@ast
Bilateral renal agenesis/hypop ...... of two de novo translocations
@en
type
label
Bilateral renal agenesis/hypop ...... of two de novo translocations
@ast
Bilateral renal agenesis/hypop ...... of two de novo translocations
@en
prefLabel
Bilateral renal agenesis/hypop ...... of two de novo translocations
@ast
Bilateral renal agenesis/hypop ...... of two de novo translocations
@en
P2093
P2860
P1433
P1476
Bilateral renal agenesis/hypop ...... of two de novo translocations
@en
P2093
Alan Howatson
Jean Keeling
Judy Fantes
Margaret Evans
Margo Whiteford
Monica Liu
Peter Branney
P2860
P304
P356
10.1371/JOURNAL.PONE.0012375
P407
P577
2010-08-25T00:00:00Z